STU 3 Ballot
DiagnosticsThis page is part of the FHIR Specification (v1.6.0: STU 3 Ballot 4). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions 
StructureDefinition for sequence
<StructureDefinition xmlns="http://hl7.org/fhir"> <id value="Sequence"/> <meta> <lastUpdated value="2016-08-11T17:02:54.322+10:00"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"> <table border="0" cellpadding="0" cellspacing="0" style="border: 0px; font-size: 11px; font-family: verdana; vertical-align: top;"> <tr style="border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;"> <th class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="formats.html#table" title="The logical name of the element">Name</a> </th> <th class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="formats.html#table" title="Information about the use of the element">Flags</a> </th> <th class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="formats.html#table" title="Minimum and Maximum # of times the the element can appear in the instance">Card.</a> </th> <th class="hierarchy" style="width: 100px"> <a href="formats.html#table" title="Reference to the type of the element">Type</a> </th> <th class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="formats.html#table" title="Additional information about the element">Description & Constraints</a> <span style="float: right"> <a href="formats.html#table" title="Legend for this format"> <img alt="doco" src="help16.png" style="background-color: inherit"/> </a> </span> </th> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABGdBTUEAAK/INwWK6QAAABl0RVh0U 29mdHdhcmUAQWRvYmUgSW1hZ2VSZWFkeXHJZTwAAAJBSURBVDjLhdKxa5NBGMfx713yvkmbJnaoFiSF4mJTh06Kg4OgiyCCRXCof4 YIdXdxFhQVHPo3OFSoUx0FySQttaVKYq2NbdO8ed/L3fM4JG3tYPvAcfBw9+HHPWdUlf/V0tLSqKo+EpEHInJFRIohhDUR+RBCeDM 7O7ua55QSkRfVanVufHyckZERrLV0Op2Zra2tmXq9fg+YsmcAdyYnJykUCke9OI6ZmJgghHAZ4KwE3ntPs9mkVCohIjQaDWq1GiEE AM5KoHEcY62lVCrRarUoFotUKpUjIL/y/uqXYmV62ph/LSVrr30P4bEFcM4B0Ov1jk547/uAUTs1ceNdZIwB7V/GGHz6+9LXxY96e DiEgHMOY8xJAK8p4grZz5cElwNbwZgyxYu3EFM01lriOCZJEqIoIooiALIsGwA9Y1UcwcWoKNLdpLu9zvbnBWqNBhuvn5EDUmB0EH /1E2TZw5U+YLQovkun+Ytsaw1xCbnCOap334LC7s4Oe/ttvA+ICLmhMXRxDufczUECS37oAuevPwUEVFFp4/eXkXSdYc2IopSepnj tUh5/wg9gfn6+OQBUNaRIUkfDHhraSLoBKqikIF3yHJDLHaAkFOLciVHnyVAVj/S2Ub/XRyQD9aAZKgkaOohvo6ENgykcA07VEFDf Qv1uf4W9Y8y30bCPhg4qKZJtMnjTPqBO/vhkZ7h3EJeRslWNQMqgY2jIAIfa/m5sIKSpqpPsGEiz599e3b+GchtD+bSvjQJm2SG6c Nj6C+QmaxAek5tyAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Resource"/> <span title="Sequence : Raw data describing a biological sequence.">Sequence</span> <a name="Sequence"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="domainresource.html">DomainResource</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Information about a biological sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAOZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQk ad4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRP z58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPv szv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866O UPvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6i f3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///////yH5BAEAAH8ALAAAAAAQABAAAAfNgH+Cg36FfoOIhH4JBxBghYl/hQ kNAV0IVT5GkJKLCwtQaSsSdx9aR26Gcwt2IkQaNRI6dBERIzCFDSgWSW8WCDkbBnoOQ3uFARc/JQJfCAZlT0x4ZFyFBxdNQT9ZCBN WKQoKUQ+FEDgcdTIAV14YDmg2CgSFA0hmQC5TLE4VRTdrKJAoxOeFCzZSwsw4U6BCizwUQhQyEaAPiAwCVNCY0FCNnA6GPAwYoETI FgY9loiRA4dToTYnsOxg8CBGHE6ICvEYQ4AKzkidfgoKBAA7" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="Sequence.identifier : A unique identifier for this particular sequence instance.">identifier</span> <a name="Sequence.identifier"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#Identifier">Identifier</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Unique ID for this particular sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.type : Amino acid / cDNA transcript / RNA variant.">type</span> <a name="Sequence.type"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">1..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#code">code</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">AA | DNA | RNA <br/> <a href="valueset-sequence-type.html" title="Type if a sequence -- DNA, RNA, or amino acid sequence">sequenceType</a> ( <a href="terminologies.html#example" title="Instances are not expected or even encouraged to draw from the specified value set. The value set merely provides examples of the types of concepts intended to be included.">Example</a>) </td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.coordinateSystem : Whether the sequence is numbered starting at 0 (0-based numbering or coordinates) or starting at 1 (1-based numbering). Values are "0" for 0-based numbering and "1" for one-based.">coordinateSystem</span> <a name="Sequence.coordinateSystem"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">1..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Numbering used for sequence (0-based or 1-based)</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxj wv8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjE EOACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQ KlQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> <span title="Sequence.patient : The patient whose sequencing results are described by this resource.">patient</span> <a name="Sequence.patient"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="references.html">Reference</a>( <a href="patient.html">Patient</a>) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Who and/or what this is about</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxj wv8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjE EOACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQ KlQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> <span title="Sequence.specimen : Specimen used for sequencing.">specimen</span> <a name="Sequence.specimen"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="references.html">Reference</a>( <a href="specimen.html">Specimen</a>) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Specimen used for sequencing</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxj wv8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjE EOACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQ KlQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> <span title="Sequence.device : The method for sequencing, for example, chip information.">device</span> <a name="Sequence.device"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="references.html">Reference</a>( <a href="device.html">Device</a>) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">The method for sequencing</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAOZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQk ad4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRP z58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPv szv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866O UPvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6i f3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///////yH5BAEAAH8ALAAAAAAQABAAAAfNgH+Cg36FfoOIhH4JBxBghYl/hQ kNAV0IVT5GkJKLCwtQaSsSdx9aR26Gcwt2IkQaNRI6dBERIzCFDSgWSW8WCDkbBnoOQ3uFARc/JQJfCAZlT0x4ZFyFBxdNQT9ZCBN WKQoKUQ+FEDgcdTIAV14YDmg2CgSFA0hmQC5TLE4VRTdrKJAoxOeFCzZSwsw4U6BCizwUQhQyEaAPiAwCVNCY0FCNnA6GPAwYoETI FgY9loiRA4dToTYnsOxg8CBGHE6ICvEYQ4AKzkidfgoKBAA7" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="Sequence.quantity : Quantity of the sequence.">quantity</span> <a name="Sequence.quantity"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#Quantity">Quantity</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Quantity of the sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAMQfAOvGUf7ztuvPMf/78/fkl/Pbg+u8Rvjqteu2Pf3zxPz36Pz0z+vTmPzurPvuw /npofbjquvNefHVduuyN+uuMu3Oafbgjfnqvf/3zv/3xevPi+vRjP/20/bmsP///////yH5BAEAAB8ALAAAAAAQABAAAAV24CeOZG mepqeqqOgxjBZFa+19r4ftWQUAgqDgltthMshMIJAZ4jYDHsBARSAmFOJvq+g6HIdEFgcYmBWNxoNAsDjGHgBnmV5bCoUDHLBIq9s FEhIdcAYJdYASFRUQhQkLCwkOFwcdEBAXhVabE52ecDahKy0oIQA7" style="background-color: white; background-color: inherit" title="Element"/> <span title="Sequence.referenceSeq : A reference sequence is a sequence that is used to represent an allele or variant.">referenceSeq</span> <a name="Sequence.referenceSeq"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="backboneelement.html">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Reference sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAOZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQk ad4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRP z58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPv szv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866O UPvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6i f3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///////yH5BAEAAH8ALAAAAAAQABAAAAfNgH+Cg36FfoOIhH4JBxBghYl/hQ kNAV0IVT5GkJKLCwtQaSsSdx9aR26Gcwt2IkQaNRI6dBERIzCFDSgWSW8WCDkbBnoOQ3uFARc/JQJfCAZlT0x4ZFyFBxdNQT9ZCBN WKQoKUQ+FEDgcdTIAV14YDmg2CgSFA0hmQC5TLE4VRTdrKJAoxOeFCzZSwsw4U6BCizwUQhQyEaAPiAwCVNCY0FCNnA6GPAwYoETI FgY9loiRA4dToTYnsOxg8CBGHE6ICvEYQ4AKzkidfgoKBAA7" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="Sequence.referenceSeq.chromosome : Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](http://www.sequenceontology.org/browser/current_svn/ter m/SO:0000340)).">chromosome</span> <a name="Sequence.referenceSeq.chromosome"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#CodeableConcept">CodeableConcept</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Chromosome containing genetic finding <br/> <a href="valueset-chromosome-human.html" title="Chromosome number for human">chromosome-human</a> ( <a href="terminologies.html#example" title="Instances are not expected or even encouraged to draw from the specified value set. The value set merely provides examples of the types of concepts intended to be included.">Example</a>) </td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.referenceSeq.genomeBuild : The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used.">genomeBuild</span> <a name="Sequence.referenceSeq.genomeBuild"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAOZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQk ad4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRP z58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPv szv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866O UPvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6i f3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///////yH5BAEAAH8ALAAAAAAQABAAAAfNgH+Cg36FfoOIhH4JBxBghYl/hQ kNAV0IVT5GkJKLCwtQaSsSdx9aR26Gcwt2IkQaNRI6dBERIzCFDSgWSW8WCDkbBnoOQ3uFARc/JQJfCAZlT0x4ZFyFBxdNQT9ZCBN WKQoKUQ+FEDgcdTIAV14YDmg2CgSFA0hmQC5TLE4VRTdrKJAoxOeFCzZSwsw4U6BCizwUQhQyEaAPiAwCVNCY0FCNnA6GPAwYoETI FgY9loiRA4dToTYnsOxg8CBGHE6ICvEYQ4AKzkidfgoKBAA7" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="Sequence.referenceSeq.referenceSeqId : Reference identifier of reference sequence submitted to NCBI. It must match the type in the Sequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences.">referenceSeqId</span> <a name="Sequence.referenceSeq.referenceSeqId"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">1..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#CodeableConcept">CodeableConcept</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Reference identifier <br/> <a href="valueset-sequence-referenceSeq.html" title="Reference identifier">ENSEMBL</a> ( <a href="terminologies.html#example" title="Instances are not expected or even encouraged to draw from the specified value set. The value set merely provides examples of the types of concepts intended to be included.">Example</a>) </td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxj wv8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjE EOACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQ KlQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> <span title="Sequence.referenceSeq.referenceSeqPointer : A Pointer to another Sequence entity as refence sequence.">referenceSeqPointer</span> <a name="Sequence.referenceSeq.referenceSeqPointer"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="references.html">Reference</a>( <a href="sequence.html">Sequence</a>) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">A Pointer to another Sequence entity as refence sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.referenceSeq.referenceSeqString : A Reference Sequence string.">referenceSeqString</span> <a name="Sequence.referenceSeq.referenceSeqString"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">A Reference Sequence string</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.referenceSeq.strand : Strand of DNA. Available values are "1" for the plus strand and "-1" for the minus strand.">strand</span> <a name="Sequence.referenceSeq.strand"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">1..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Strand of DNA</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.referenceSeq.windowStart : Start position (inclusive) of the window on the reference sequence.">windowStart</span> <a name="Sequence.referenceSeq.windowStart"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">1..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Start position (inclusive) of the window on the reference sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUO L+O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.referenceSeq.windowEnd : End position (exclusive) of the window on the reference sequence.">windowEnd</span> <a name="Sequence.referenceSeq.windowEnd"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">1..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">End position (exclusive) of the window on the reference sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAMQfAOvGUf7ztuvPMf/78/fkl/Pbg+u8Rvjqteu2Pf3zxPz36Pz0z+vTmPzurPvuw /npofbjquvNefHVduuyN+uuMu3Oafbgjfnqvf/3zv/3xevPi+vRjP/20/bmsP///////yH5BAEAAB8ALAAAAAAQABAAAAV24CeOZG mepqeqqOgxjBZFa+19r4ftWQUAgqDgltthMshMIJAZ4jYDHsBARSAmFOJvq+g6HIdEFgcYmBWNxoNAsDjGHgBnmV5bCoUDHLBIq9s FEhIdcAYJdYASFRUQhQkLCwkOFwcdEBAXhVabE52ecDahKy0oIQA7" style="background-color: white; background-color: inherit" title="Element"/> <span title="Sequence.variant : A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A ([variant_of](http://www.sequenceontology.org/browser/cur rent_svn/term/variant_of)).">variant</span> <a name="Sequence.variant"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="backboneelement.html">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Sequence variant</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.variant.start : Start position (inclusive) of the variant on the reference sequence.">start</span> <a name="Sequence.variant.start"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Start position (inclusive) of the variant on the reference sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.variant.end : End position (exclusive) of the variant on the reference sequence.">end</span> <a name="Sequence.variant.end"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">End position (exclusive) of the variant on the reference sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.variant.observedAllele : An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand.">observedAllele</span> <a name="Sequence.variant.observedAllele"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Allele that was observed</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.variant.referenceAllele : An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand.">referenceAllele</span> <a name="Sequence.variant.referenceAllele"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Allele of reference sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.variant.cigar : Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation [here](http://support.illumina.com/help/SequencingAnalysisWorkflow /Content/Vault/Informatics/Sequencing_Analysis/CASAVA/swSEQ_mCA_ExtendedCIGARFormat.htm).">cigar</span> <a name="Sequence.variant.cigar"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Extended CIGAR string for aligning the sequence with reference bases</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUO L+O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxj wv8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjE EOACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQ KlQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> <span title="Sequence.variant.variantPointer : A pointer to an Observation containing variant information.">variantPointer</span> <a name="Sequence.variant.variantPointer"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="references.html">Reference</a>( <a href="observation.html">Observation</a>) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Pointer to observed variant information</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.observedSeq : Sequence that was observed.">observedSeq</span> <a name="Sequence.observedSeq"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Observed sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAMQfAOvGUf7ztuvPMf/78/fkl/Pbg+u8Rvjqteu2Pf3zxPz36Pz0z+vTmPzurPvuw /npofbjquvNefHVduuyN+uuMu3Oafbgjfnqvf/3zv/3xevPi+vRjP/20/bmsP///////yH5BAEAAB8ALAAAAAAQABAAAAV24CeOZG mepqeqqOgxjBZFa+19r4ftWQUAgqDgltthMshMIJAZ4jYDHsBARSAmFOJvq+g6HIdEFgcYmBWNxoNAsDjGHgBnmV5bCoUDHLBIq9s FEhIdcAYJdYASFRUQhQkLCwkOFwcdEBAXhVabE52ecDahKy0oIQA7" style="background-color: white; background-color: inherit" title="Element"/> <span title="Sequence.quality : An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score ([SO:0001686](http://www.sequenceontology.org/b rowser/current_svn/term/SO:0001686)).">quality</span> <a name="Sequence.quality"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="backboneelement.html">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Sequence quality</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAOZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQk ad4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRP z58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPv szv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866O UPvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6i f3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///////yH5BAEAAH8ALAAAAAAQABAAAAfNgH+Cg36FfoOIhH4JBxBghYl/hQ kNAV0IVT5GkJKLCwtQaSsSdx9aR26Gcwt2IkQaNRI6dBERIzCFDSgWSW8WCDkbBnoOQ3uFARc/JQJfCAZlT0x4ZFyFBxdNQT9ZCBN WKQoKUQ+FEDgcdTIAV14YDmg2CgSFA0hmQC5TLE4VRTdrKJAoxOeFCzZSwsw4U6BCizwUQhQyEaAPiAwCVNCY0FCNnA6GPAwYoETI FgY9loiRA4dToTYnsOxg8CBGHE6ICvEYQ4AKzkidfgoKBAA7" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="Sequence.quality.standardSequence : Gold standard sequence used for comparing against.">standardSequence</span> <a name="Sequence.quality.standardSequence"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#CodeableConcept">CodeableConcept</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Standard sequence for comparison</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.start : Start position (inclusive) of the sequence.">start</span> <a name="Sequence.quality.start"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Start position (inclusive) of the sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.end : End position (exclusive) of the sequence.">end</span> <a name="Sequence.quality.end"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">End position (exclusive) of the sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAOZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQk ad4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRP z58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPv szv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866O UPvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6i f3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///////yH5BAEAAH8ALAAAAAAQABAAAAfNgH+Cg36FfoOIhH4JBxBghYl/hQ kNAV0IVT5GkJKLCwtQaSsSdx9aR26Gcwt2IkQaNRI6dBERIzCFDSgWSW8WCDkbBnoOQ3uFARc/JQJfCAZlT0x4ZFyFBxdNQT9ZCBN WKQoKUQ+FEDgcdTIAV14YDmg2CgSFA0hmQC5TLE4VRTdrKJAoxOeFCzZSwsw4U6BCizwUQhQyEaAPiAwCVNCY0FCNnA6GPAwYoETI FgY9loiRA4dToTYnsOxg8CBGHE6ICvEYQ4AKzkidfgoKBAA7" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="Sequence.quality.score : The score of an experimentally derived feature such as a p-value ([SO:0001685](http://www.sequenceontology.org/browser/current_svn/term/SO:0001685)).">score</span> <a name="Sequence.quality.score"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#Quantity">Quantity</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Quality score</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAOZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQk ad4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRP z58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPv szv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866O UPvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6i f3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///////yH5BAEAAH8ALAAAAAAQABAAAAfNgH+Cg36FfoOIhH4JBxBghYl/hQ kNAV0IVT5GkJKLCwtQaSsSdx9aR26Gcwt2IkQaNRI6dBERIzCFDSgWSW8WCDkbBnoOQ3uFARc/JQJfCAZlT0x4ZFyFBxdNQT9ZCBN WKQoKUQ+FEDgcdTIAV14YDmg2CgSFA0hmQC5TLE4VRTdrKJAoxOeFCzZSwsw4U6BCizwUQhQyEaAPiAwCVNCY0FCNnA6GPAwYoETI FgY9loiRA4dToTYnsOxg8CBGHE6ICvEYQ4AKzkidfgoKBAA7" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="Sequence.quality.method : Method for quality.">method</span> <a name="Sequence.quality.method"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#CodeableConcept">CodeableConcept</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Method for quality</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.truthTP : True positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event.">truthTP</span> <a name="Sequence.quality.truthTP"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">True positives from the perspective of the truth data</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.queryTP : True positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event.">queryTP</span> <a name="Sequence.quality.queryTP"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">True positives from the perspective of the query data</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.truthFN : False negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here.">truthFN</span> <a name="Sequence.quality.truthFN"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">False negatives</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.queryFP : False positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here.">queryFP</span> <a name="Sequence.quality.queryFP"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">False positives</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.gtFP : The number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar).">gtFP</span> <a name="Sequence.quality.gtFP"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">False positives where the non-REF alleles in the Truth and Query Call Sets match</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.precision : QUERY.TP / (QUERY.TP + QUERY.FP).">precision</span> <a name="Sequence.quality.precision"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Precision</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.recall : TRUTH.TP / (TRUTH.TP + TRUTH.FN).">recall</span> <a name="Sequence.quality.recall"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Recall</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUO L+O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.quality.fScore : Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall).">fScore</span> <a name="Sequence.quality.fScore"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">F-score</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.readCoverage : Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence.">readCoverage</span> <a name="Sequence.readCoverage"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Average number of reads representing a given nucleotide in the reconstructed sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAMQfAOvGUf7ztuvPMf/78/fkl/Pbg+u8Rvjqteu2Pf3zxPz36Pz0z+vTmPzurPvuw /npofbjquvNefHVduuyN+uuMu3Oafbgjfnqvf/3zv/3xevPi+vRjP/20/bmsP///////yH5BAEAAB8ALAAAAAAQABAAAAV24CeOZG mepqeqqOgxjBZFa+19r4ftWQUAgqDgltthMshMIJAZ4jYDHsBARSAmFOJvq+g6HIdEFgcYmBWNxoNAsDjGHgBnmV5bCoUDHLBIq9s FEhIdcAYJdYASFRUQhQkLCwkOFwcdEBAXhVabE52ecDahKy0oIQA7" style="background-color: white; background-color: inherit" title="Element"/> <span title="Sequence.repository : Configurations of the external repository.">repository</span> <a name="Sequence.repository"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="backboneelement.html">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">External repository</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.repository.url : URI of an external repository which contains further details about the genetics data.">url</span> <a name="Sequence.repository.url"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#uri">uri</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">URI of the repository</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.repository.name : URI of an external repository which contains further details about the genetics data.">name</span> <a name="Sequence.repository.name"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Name of the repository</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOCZBkurQFbnaRSlAAAAAElFTkS uQmCC)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.repository.variantId : Id of the variant in this external repository.">variantId</span> <a name="Sequence.repository.variantId"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Id of the variant</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUO L+O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.repository.readId : Id of the read in this external repository.">readId</span> <a name="Sequence.repository.readId"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Id of the read</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCsPVYVAgIJrA/sAAAAASUVORK5 CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxj wv8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjE EOACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQ KlQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> <span title="Sequence.pointer : Pointer to next atomic sequence which at most contains one variant.">pointer</span> <a name="Sequence.pointer"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="references.html">Reference</a>( <a href="sequence.html">Sequence</a>) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Pointer to next atomic sequence</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAI0lEQVR42u3QIQEAAAACIL/6/4MvTAQOkLYBAAB4kAAAANwMad9AqkRjgNAAAAAASUVORK5CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUO L+O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,R0lGODlhEAAQAMQfAOvGUf7ztuvPMf/78/fkl/Pbg+u8Rvjqteu2Pf3zxPz36Pz0z+vTmPzurPvuw /npofbjquvNefHVduuyN+uuMu3Oafbgjfnqvf/3zv/3xevPi+vRjP/20/bmsP///////yH5BAEAAB8ALAAAAAAQABAAAAV24CeOZG mepqeqqOgxjBZFa+19r4ftWQUAgqDgltthMshMIJAZ4jYDHsBARSAmFOJvq+g6HIdEFgcYmBWNxoNAsDjGHgBnmV5bCoUDHLBIq9s FEhIdcAYJdYASFRUQhQkLCwkOFwcdEBAXhVabE52ecDahKy0oIQA7" style="background-color: white; background-color: inherit" title="Element"/> <span title="Sequence.structureVariant : Structural variant.">structureVariant</span> <a name="Sequence.structureVariant"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="backboneelement.html">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"/> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAALElEQVR42u3QwQkAMAwDsezq/WdIO4XJQwa9DTdJpulv258AAMANIgAAADUPYAVAgAJ//usAAAAASUVORK5CYII =)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiY FCMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII=" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.structureVariant.precisionOfBoundaries : Precision of boundaries.">precisionOfBoundaries</span> <a name="Sequence.structureVariant.precisionOfBoundaries"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Precision of boundaries</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; 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background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.structureVariant.reportedaCGHRatio : Structural Variant reported aCGH ratio.">reportedaCGHRatio</span> <a name="Sequence.structureVariant.reportedaCGHRatio"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#decimal">decimal</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Structural Variant reported aCGH ratio</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; 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background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.structureVariant.length : Structural Variant Length.">length</span> <a name="Sequence.structureVariant.length"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Structural Variant Length</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; 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background-color: inherit" title="Element"/> <span title="Sequence.structureVariant.outer : Structural variant outer.">outer</span> <a name="Sequence.structureVariant.outer"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="backboneelement.html">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"/> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAK0lEQVR42u3QMREAAAgDMbzWvwZABSzpXcYuX0nq0q4//wAAwB8RAACAMwNgq0BWjZsKRgAAAABJRU5ErkJggg= =)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiY FCMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII=" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwA v+PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav 7/2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.structureVariant.outer.start : Structural Variant Outer Start-End.">start</span> <a name="Sequence.structureVariant.outer.start"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Structural Variant Outer Start-End</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; 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background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.structureVariant.outer.end : Structural Variant Outer Start-End.">end</span> <a name="Sequence.structureVariant.outer.end"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Structural Variant Outer Start-End</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; 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background-color: inherit" title="Element"/> <span title="Sequence.structureVariant.inner : Structural variant inner.">inner</span> <a name="Sequence.structureVariant.inner"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="backboneelement.html">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"/> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; 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background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.structureVariant.inner.start : Structural Variant Inner Start-End.">start</span> <a name="Sequence.structureVariant.inner.start"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Structural Variant Inner Start-End</td> </tr> <tr style="border: 0px; padding:0px; vertical-align: top; background-color: white;"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCA YAAACg/LjIAAAAI0lEQVR42u3QIQEAAAACIL/6/4MvTAQOkLYBAAB4kAAAANwMad9AqkRjgNAAAAAASUVORK5CYII=)"> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAw NdCABMPwMo2ctnoQAAAABJRU5ErkJggg==" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiY FCMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII=" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiY FCMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII=" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB 3RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUO L+O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data: image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABmJLR0QA/wD/AP+gvaeTAAAACXBIW XMAAAsTAAALEwEAmpwYAAAAB3RJTUUH3gYBFzI0BrFQCwAAAERJREFUOMtj/P//PwMlgImBQjDwBrCcOnWKokBgYWBgYDCU+06W5i 8MUggvnH/EOVJjAW4AuQHJ+O75LYqikXE0LzAAALePEntTkEoSAAAAAElFTkSuQmCC" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="Sequence.structureVariant.inner.end : Structural Variant Inner Start-End.">end</span> <a name="Sequence.structureVariant.inner.end"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <span style="padding: 3px" title="This element is included in summaries">Σ</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; padding:0px 4px 0px 4px">Structural Variant Inner Start-End</td> </tr> <tr> <td class="hierarchy" colspan="5"> <br/> <a href="formats.html#table" title="Legend for this format"> <img alt="doco" src="help16.png" style="background-color: inherit"/> Documentation for this format </a> </td> </tr> </table> </div> </text> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"> <valueInteger value="0"/> </extension> <url value="http://hl7.org/fhir/StructureDefinition/Sequence"/> <name value="Sequence"/> <status value="draft"/> <publisher value="Health Level Seven International (Clinical Genomics)"/> <contact> <telecom> <system value="other"/> <value value="http://hl7.org/fhir"/> </telecom> </contact> <contact> <telecom> <system value="other"/> <value value="http://www.hl7.org/Special/committees/clingenomics/index.cfm"/> </telecom> </contact> <date value="2016-08-11T17:02:54+10:00"/> <description value="Base StructureDefinition for Sequence Resource"/> <fhirVersion value="1.6.0"/> <mapping> <identity value="w5"/> <uri value="http://hl7.org/fhir/w5"/> <name value="W5 Mapping"/> </mapping> <mapping> <identity value="rim"/> <uri value="http://hl7.org/v3"/> <name value="RIM Mapping"/> </mapping> <kind value="resource"/> <abstract value="false"/> <type value="Sequence"/> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/DomainResource"/> <derivation value="specialization"/> <snapshot> <element id="Sequence"> <path value="Sequence"/> <short value="Information about a biological sequence"/> <definition value="Raw data describing a biological sequence."/> <min value="0"/> <max value="*"/> <constraint> <key value="dom-2"/> <severity value="error"/> <human value="If the resource is contained in another resource, it SHALL NOT contain nested Resources"/> <expression value="contained.contained.empty()"/> <xpath value="not(parent::f:contained and f:contained)"/> </constraint> <constraint> <key value="dom-1"/> <severity value="error"/> <human value="If the resource is contained in another resource, it SHALL NOT contain any narrative"/> <expression value="contained.text.empty()"/> <xpath value="not(parent::f:contained and f:text)"/> </constraint> <constraint> <key value="dom-4"/> <severity value="error"/> <human value="If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated"/> <expression value="contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()"/> <xpath value="not(exists(f:contained/*/f:meta/f:versionId)) and not(exists(f:contained/*/f:meta/f:lastUpdated))"/> </constraint> <constraint> <key value="dom-3"/> <severity value="error"/> <human value="If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource"/> <expression value="contained.where(('#'+id in %resource.descendants().reference).not()).empty()"/> <xpath value="not(exists(for $id in f:contained/*/@id return $id[not(ancestor::f:contained/parent::*/descendant::f :reference/@value=concat('#', $id))]))"/> </constraint> <mapping> <identity value="rim"/> <map value="Entity. Role, or Act"/> </mapping> <mapping> <identity value="w5"/> <map value="clinical.diagnostics"/> </mapping> </element> <element id="Sequence.id"> <path value="Sequence.id"/> <short value="Logical id of this artifact"/> <definition value="The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes."/> <comments value="The only time that a resource does not have an id is when it is being submitted to the server using a create operation."/> <min value="0"/> <max value="1"/> <base> <path value="Resource.id"/> <min value="0"/> <max value="*"/> </base> <type> <code value="id"/> </type> <isSummary value="true"/> </element> <element id="Sequence.meta"> <path value="Sequence.meta"/> <short value="Metadata about the resource"/> <definition value="The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content may not always be associated with version changes to the resource."/> <min value="0"/> <max value="1"/> <base> <path value="Resource.meta"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Meta"/> </type> <isSummary value="true"/> </element> <element id="Sequence.implicitRules"> <path value="Sequence.implicitRules"/> <short value="A set of rules under which this content was created"/> <definition value="A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content."/> <comments value="Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element as much as possible."/> <min value="0"/> <max value="1"/> <base> <path value="Resource.implicitRules"/> <min value="0"/> <max value="*"/> </base> <type> <code value="uri"/> </type> <isModifier value="true"/> <isSummary value="true"/> </element> <element id="Sequence.language"> <path value="Sequence.language"/> <short value="Language of the resource content"/> <definition value="The base language in which the resource is written."/> <comments value="Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute)."/> <min value="0"/> <max value="1"/> <base> <path value="Resource.language"/> <min value="0"/> <max value="*"/> </base> <type> <code value="code"/> </type> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-maxValueSet"> <valueReference> <reference value="http://hl7.org/fhir/ValueSet/all-languages"/> </valueReference> </extension> <strength value="extensible"/> <description value="A human language."/> <valueSetReference> <reference value="http://hl7.org/fhir/ValueSet/languages"/> </valueSetReference> </binding> </element> <element id="Sequence.text"> <path value="Sequence.text"/> <short value="Text summary of the resource, for human interpretation"/> <definition value="A human-readable narrative that contains a summary of the resource, and may be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety."/> <comments value="Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded in formation is added later."/> <alias value="narrative"/> <alias value="html"/> <alias value="xhtml"/> <alias value="display"/> <min value="0"/> <max value="1"/> <base> <path value="DomainResource.text"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Narrative"/> </type> <condition value="dom-1"/> <mapping> <identity value="rim"/> <map value="Act.text?"/> </mapping> </element> <element id="Sequence.contained"> <path value="Sequence.contained"/> <short value="Contained, inline Resources"/> <definition value="These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope."/> <comments value="This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again."/> <alias value="inline resources"/> <alias value="anonymous resources"/> <alias value="contained resources"/> <min value="0"/> <max value="*"/> <base> <path value="DomainResource.contained"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Resource"/> </type> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.extension"> <path value="Sequence.extension"/> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="DomainResource.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.modifierExtension"> <path value="Sequence.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="DomainResource.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.identifier"> <path value="Sequence.identifier"/> <short value="Unique ID for this particular sequence"/> <definition value="A unique identifier for this particular sequence instance."/> <requirements value="Allows sequences to be distinguished and referenced."/> <min value="0"/> <max value="*"/> <type> <code value="Identifier"/> </type> <isSummary value="true"/> <mapping> <identity value="w5"/> <map value="id"/> </mapping> </element> <element id="Sequence.type"> <path value="Sequence.type"/> <short value="AA | DNA | RNA"/> <definition value="Amino acid / cDNA transcript / RNA variant."/> <min value="1"/> <max value="1"/> <type> <code value="code"/> </type> <isSummary value="true"/> <binding> <strength value="example"/> <description value="Type if a sequence -- DNA, RNA, or amino acid sequence"/> <valueSetReference> <reference value="http://hl7.org/fhir/ValueSet/sequence-type"/> </valueSetReference> </binding> </element> <element id="Sequence.coordinateSystem"> <path value="Sequence.coordinateSystem"/> <short value="Numbering used for sequence (0-based or 1-based)"/> <definition value="Whether the sequence is numbered starting at 0 (0-based numbering or coordinates) or starting at 1 (1-based numbering). Values are "0" for 0-based numbering and "1" for one-based."/> <min value="1"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.patient"> <path value="Sequence.patient"/> <short value="Who and/or what this is about"/> <definition value="The patient whose sequencing results are described by this resource."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Patient"/> </type> <isSummary value="true"/> </element> <element id="Sequence.specimen"> <path value="Sequence.specimen"/> <short value="Specimen used for sequencing"/> <definition value="Specimen used for sequencing."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Specimen"/> </type> <isSummary value="true"/> </element> <element id="Sequence.device"> <path value="Sequence.device"/> <short value="The method for sequencing"/> <definition value="The method for sequencing, for example, chip information."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Device"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quantity"> <path value="Sequence.quantity"/> <short value="Quantity of the sequence"/> <definition value="Quantity of the sequence."/> <min value="0"/> <max value="1"/> <type> <code value="Quantity"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq"> <path value="Sequence.referenceSeq"/> <short value="Reference sequence"/> <definition value="A reference sequence is a sequence that is used to represent an allele or variant."/> <min value="0"/> <max value="1"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.id"> <path value="Sequence.referenceSeq.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="*"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.referenceSeq.extension"> <path value="Sequence.referenceSeq.extension"/> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.referenceSeq.modifierExtension"> <path value="Sequence.referenceSeq.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="true"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.referenceSeq.chromosome"> <path value="Sequence.referenceSeq.chromosome"/> <short value="Chromosome containing genetic finding"/> <definition value="Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](htt p://www.sequenceontology.org/browser/current_svn/term/SO:0000340))."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <isSummary value="true"/> <binding> <strength value="example"/> <description value="Chromosome number for human"/> <valueSetReference> <reference value="http://hl7.org/fhir/ValueSet/chromosome-human"/> </valueSetReference> </binding> </element> <element id="Sequence.referenceSeq.genomeBuild"> <path value="Sequence.referenceSeq.genomeBuild"/> <short value="The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'"/> <definition value="The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.referenceSeqId"> <path value="Sequence.referenceSeq.referenceSeqId"/> <short value="Reference identifier"/> <definition value="Reference identifier of reference sequence submitted to NCBI. It must match the type in the Sequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences."/> <min value="1"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <isSummary value="true"/> <binding> <strength value="example"/> <description value="Reference identifier"/> <valueSetReference> <reference value="http://hl7.org/fhir/ValueSet/sequence-referenceSeq"/> </valueSetReference> </binding> </element> <element id="Sequence.referenceSeq.referenceSeqPointer"> <path value="Sequence.referenceSeq.referenceSeqPointer"/> <short value="A Pointer to another Sequence entity as refence sequence"/> <definition value="A Pointer to another Sequence entity as refence sequence."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Sequence"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.referenceSeqString"> <path value="Sequence.referenceSeq.referenceSeqString"/> <short value="A Reference Sequence string"/> <definition value="A Reference Sequence string."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.strand"> <path value="Sequence.referenceSeq.strand"/> <short value="Strand of DNA"/> <definition value="Strand of DNA. Available values are "1" for the plus strand and "-1" for the minus strand."/> <min value="1"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.windowStart"> <path value="Sequence.referenceSeq.windowStart"/> <short value="Start position (inclusive) of the window on the reference sequence"/> <definition value="Start position (inclusive) of the window on the reference sequence."/> <min value="1"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.windowEnd"> <path value="Sequence.referenceSeq.windowEnd"/> <short value="End position (exclusive) of the window on the reference sequence"/> <definition value="End position (exclusive) of the window on the reference sequence."/> <min value="1"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant"> <path value="Sequence.variant"/> <short value="Sequence variant"/> <definition value="A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/vari ant_of))."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.id"> <path value="Sequence.variant.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="*"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.variant.extension"> <path value="Sequence.variant.extension"/> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.variant.modifierExtension"> <path value="Sequence.variant.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="true"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.variant.start"> <path value="Sequence.variant.start"/> <short value="Start position (inclusive) of the variant on the reference sequence"/> <definition value="Start position (inclusive) of the variant on the reference sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.end"> <path value="Sequence.variant.end"/> <short value="End position (exclusive) of the variant on the reference sequence"/> <definition value="End position (exclusive) of the variant on the reference sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.observedAllele"> <path value="Sequence.variant.observedAllele"/> <short value="Allele that was observed"/> <definition value="An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.referenceAllele"> <path value="Sequence.variant.referenceAllele"/> <short value="Allele of reference sequence"/> <definition value="An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.cigar"> <path value="Sequence.variant.cigar"/> <short value="Extended CIGAR string for aligning the sequence with reference bases"/> <definition value="Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation [here](http://support.illumina.com/help/SequencingAnalysisWorkflow/Content/Vault/Informatics/Sequenc ing_Analysis/CASAVA/swSEQ_mCA_ExtendedCIGARFormat.htm)."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.variantPointer"> <path value="Sequence.variant.variantPointer"/> <short value="Pointer to observed variant information"/> <definition value="A pointer to an Observation containing variant information."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Observation"/> </type> <isSummary value="true"/> </element> <element id="Sequence.observedSeq"> <path value="Sequence.observedSeq"/> <short value="Observed sequence"/> <definition value="Sequence that was observed."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality"> <path value="Sequence.quality"/> <short value="Sequence quality"/> <definition value="An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score ([SO:0001686](http://www.sequenceontology.org/browser/current_svn /term/SO:0001686))."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.id"> <path value="Sequence.quality.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="*"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.quality.extension"> <path value="Sequence.quality.extension"/> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.quality.modifierExtension"> <path value="Sequence.quality.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="true"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.quality.standardSequence"> <path value="Sequence.quality.standardSequence"/> <short value="Standard sequence for comparison"/> <definition value="Gold standard sequence used for comparing against."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.start"> <path value="Sequence.quality.start"/> <short value="Start position (inclusive) of the sequence"/> <definition value="Start position (inclusive) of the sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.end"> <path value="Sequence.quality.end"/> <short value="End position (exclusive) of the sequence"/> <definition value="End position (exclusive) of the sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.score"> <path value="Sequence.quality.score"/> <short value="Quality score"/> <definition value="The score of an experimentally derived feature such as a p-value ([SO:0001685](http://www.sequenceon tology.org/browser/current_svn/term/SO:0001685))."/> <min value="0"/> <max value="1"/> <type> <code value="Quantity"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.method"> <path value="Sequence.quality.method"/> <short value="Method for quality"/> <definition value="Method for quality."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.truthTP"> <path value="Sequence.quality.truthTP"/> <short value="True positives from the perspective of the truth data"/> <definition value="True positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.queryTP"> <path value="Sequence.quality.queryTP"/> <short value="True positives from the perspective of the query data"/> <definition value="True positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.truthFN"> <path value="Sequence.quality.truthFN"/> <short value="False negatives"/> <definition value="False negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.queryFP"> <path value="Sequence.quality.queryFP"/> <short value="False positives"/> <definition value="False positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.gtFP"> <path value="Sequence.quality.gtFP"/> <short value="False positives where the non-REF alleles in the Truth and Query Call Sets match"/> <definition value="The number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar)."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.precision"> <path value="Sequence.quality.precision"/> <short value="Precision"/> <definition value="QUERY.TP / (QUERY.TP + QUERY.FP)."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.recall"> <path value="Sequence.quality.recall"/> <short value="Recall"/> <definition value="TRUTH.TP / (TRUTH.TP + TRUTH.FN)."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.fScore"> <path value="Sequence.quality.fScore"/> <short value="F-score"/> <definition value="Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall)."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.readCoverage"> <path value="Sequence.readCoverage"/> <short value="Average number of reads representing a given nucleotide in the reconstructed sequence"/> <definition value="Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository"> <path value="Sequence.repository"/> <short value="External repository"/> <definition value="Configurations of the external repository."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository.id"> <path value="Sequence.repository.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="*"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.repository.extension"> <path value="Sequence.repository.extension"/> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.repository.modifierExtension"> <path value="Sequence.repository.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="true"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.repository.url"> <path value="Sequence.repository.url"/> <short value="URI of the repository"/> <definition value="URI of an external repository which contains further details about the genetics data."/> <min value="0"/> <max value="1"/> <type> <code value="uri"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository.name"> <path value="Sequence.repository.name"/> <short value="Name of the repository"/> <definition value="URI of an external repository which contains further details about the genetics data."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository.variantId"> <path value="Sequence.repository.variantId"/> <short value="Id of the variant"/> <definition value="Id of the variant in this external repository."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository.readId"> <path value="Sequence.repository.readId"/> <short value="Id of the read"/> <definition value="Id of the read in this external repository."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.pointer"> <path value="Sequence.pointer"/> <short value="Pointer to next atomic sequence"/> <definition value="Pointer to next atomic sequence which at most contains one variant."/> <min value="0"/> <max value="*"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Sequence"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant"> <path value="Sequence.structureVariant"/> <definition value="Structural variant."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.id"> <path value="Sequence.structureVariant.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="*"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.structureVariant.extension"> <path value="Sequence.structureVariant.extension"/> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.structureVariant.modifierExtension"> <path value="Sequence.structureVariant.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="true"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.structureVariant.precisionOfBoundaries"> <path value="Sequence.structureVariant.precisionOfBoundaries"/> <short value="Precision of boundaries"/> <definition value="Precision of boundaries."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.reportedaCGHRatio"> <path value="Sequence.structureVariant.reportedaCGHRatio"/> <short value="Structural Variant reported aCGH ratio"/> <definition value="Structural Variant reported aCGH ratio."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.length"> <path value="Sequence.structureVariant.length"/> <short value="Structural Variant Length"/> <definition value="Structural Variant Length."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.outer"> <path value="Sequence.structureVariant.outer"/> <definition value="Structural variant outer."/> <min value="0"/> <max value="1"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.outer.id"> <path value="Sequence.structureVariant.outer.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="*"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.structureVariant.outer.extension"> <path value="Sequence.structureVariant.outer.extension"/> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.structureVariant.outer.modifierExtension"> <path value="Sequence.structureVariant.outer.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="true"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.structureVariant.outer.start"> <path value="Sequence.structureVariant.outer.start"/> <short value="Structural Variant Outer Start-End"/> <definition value="Structural Variant Outer Start-End."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.outer.end"> <path value="Sequence.structureVariant.outer.end"/> <short value="Structural Variant Outer Start-End"/> <definition value="Structural Variant Outer Start-End."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.inner"> <path value="Sequence.structureVariant.inner"/> <definition value="Structural variant inner."/> <min value="0"/> <max value="1"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.inner.id"> <path value="Sequence.structureVariant.inner.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="*"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.structureVariant.inner.extension"> <path value="Sequence.structureVariant.inner.extension"/> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Sequence.structureVariant.inner.modifierExtension"> <path value="Sequence.structureVariant.inner.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions."/> <comments value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="true"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Sequence.structureVariant.inner.start"> <path value="Sequence.structureVariant.inner.start"/> <short value="Structural Variant Inner Start-End"/> <definition value="Structural Variant Inner Start-End."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.inner.end"> <path value="Sequence.structureVariant.inner.end"/> <short value="Structural Variant Inner Start-End"/> <definition value="Structural Variant Inner Start-End."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> </snapshot> <differential> <element id="Sequence"> <path value="Sequence"/> <short value="Information about a biological sequence"/> <definition value="Raw data describing a biological sequence."/> <min value="0"/> <max value="*"/> <mapping> <identity value="w5"/> <map value="clinical.diagnostics"/> </mapping> </element> <element id="Sequence.identifier"> <path value="Sequence.identifier"/> <short value="Unique ID for this particular sequence"/> <definition value="A unique identifier for this particular sequence instance."/> <requirements value="Allows sequences to be distinguished and referenced."/> <min value="0"/> <max value="*"/> <type> <code value="Identifier"/> </type> <isSummary value="true"/> <mapping> <identity value="w5"/> <map value="id"/> </mapping> </element> <element id="Sequence.type"> <path value="Sequence.type"/> <short value="AA | DNA | RNA"/> <definition value="Amino acid / cDNA transcript / RNA variant."/> <min value="1"/> <max value="1"/> <type> <code value="code"/> </type> <isSummary value="true"/> <binding> <strength value="example"/> <description value="Type if a sequence -- DNA, RNA, or amino acid sequence"/> <valueSetReference> <reference value="http://hl7.org/fhir/ValueSet/sequence-type"/> </valueSetReference> </binding> </element> <element id="Sequence.coordinateSystem"> <path value="Sequence.coordinateSystem"/> <short value="Numbering used for sequence (0-based or 1-based)"/> <definition value="Whether the sequence is numbered starting at 0 (0-based numbering or coordinates) or starting at 1 (1-based numbering). Values are "0" for 0-based numbering and "1" for one-based."/> <min value="1"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.patient"> <path value="Sequence.patient"/> <short value="Who and/or what this is about"/> <definition value="The patient whose sequencing results are described by this resource."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Patient"/> </type> <isSummary value="true"/> </element> <element id="Sequence.specimen"> <path value="Sequence.specimen"/> <short value="Specimen used for sequencing"/> <definition value="Specimen used for sequencing."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Specimen"/> </type> <isSummary value="true"/> </element> <element id="Sequence.device"> <path value="Sequence.device"/> <short value="The method for sequencing"/> <definition value="The method for sequencing, for example, chip information."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Device"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quantity"> <path value="Sequence.quantity"/> <short value="Quantity of the sequence"/> <definition value="Quantity of the sequence."/> <min value="0"/> <max value="1"/> <type> <code value="Quantity"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq"> <path value="Sequence.referenceSeq"/> <short value="Reference sequence"/> <definition value="A reference sequence is a sequence that is used to represent an allele or variant."/> <min value="0"/> <max value="1"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.chromosome"> <path value="Sequence.referenceSeq.chromosome"/> <short value="Chromosome containing genetic finding"/> <definition value="Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](htt p://www.sequenceontology.org/browser/current_svn/term/SO:0000340))."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <isSummary value="true"/> <binding> <strength value="example"/> <description value="Chromosome number for human"/> <valueSetReference> <reference value="http://hl7.org/fhir/ValueSet/chromosome-human"/> </valueSetReference> </binding> </element> <element id="Sequence.referenceSeq.genomeBuild"> <path value="Sequence.referenceSeq.genomeBuild"/> <short value="The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'"/> <definition value="The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.referenceSeqId"> <path value="Sequence.referenceSeq.referenceSeqId"/> <short value="Reference identifier"/> <definition value="Reference identifier of reference sequence submitted to NCBI. It must match the type in the Sequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences."/> <min value="1"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <isSummary value="true"/> <binding> <strength value="example"/> <description value="Reference identifier"/> <valueSetReference> <reference value="http://hl7.org/fhir/ValueSet/sequence-referenceSeq"/> </valueSetReference> </binding> </element> <element id="Sequence.referenceSeq.referenceSeqPointer"> <path value="Sequence.referenceSeq.referenceSeqPointer"/> <short value="A Pointer to another Sequence entity as refence sequence"/> <definition value="A Pointer to another Sequence entity as refence sequence."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Sequence"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.referenceSeqString"> <path value="Sequence.referenceSeq.referenceSeqString"/> <short value="A Reference Sequence string"/> <definition value="A Reference Sequence string."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.strand"> <path value="Sequence.referenceSeq.strand"/> <short value="Strand of DNA"/> <definition value="Strand of DNA. Available values are "1" for the plus strand and "-1" for the minus strand."/> <min value="1"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.windowStart"> <path value="Sequence.referenceSeq.windowStart"/> <short value="Start position (inclusive) of the window on the reference sequence"/> <definition value="Start position (inclusive) of the window on the reference sequence."/> <min value="1"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.referenceSeq.windowEnd"> <path value="Sequence.referenceSeq.windowEnd"/> <short value="End position (exclusive) of the window on the reference sequence"/> <definition value="End position (exclusive) of the window on the reference sequence."/> <min value="1"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant"> <path value="Sequence.variant"/> <short value="Sequence variant"/> <definition value="A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/vari ant_of))."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.start"> <path value="Sequence.variant.start"/> <short value="Start position (inclusive) of the variant on the reference sequence"/> <definition value="Start position (inclusive) of the variant on the reference sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.end"> <path value="Sequence.variant.end"/> <short value="End position (exclusive) of the variant on the reference sequence"/> <definition value="End position (exclusive) of the variant on the reference sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.observedAllele"> <path value="Sequence.variant.observedAllele"/> <short value="Allele that was observed"/> <definition value="An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.referenceAllele"> <path value="Sequence.variant.referenceAllele"/> <short value="Allele of reference sequence"/> <definition value="An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.cigar"> <path value="Sequence.variant.cigar"/> <short value="Extended CIGAR string for aligning the sequence with reference bases"/> <definition value="Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation [here](http://support.illumina.com/help/SequencingAnalysisWorkflow/Content/Vault/Informatics/Sequenc ing_Analysis/CASAVA/swSEQ_mCA_ExtendedCIGARFormat.htm)."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.variant.variantPointer"> <path value="Sequence.variant.variantPointer"/> <short value="Pointer to observed variant information"/> <definition value="A pointer to an Observation containing variant information."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Observation"/> </type> <isSummary value="true"/> </element> <element id="Sequence.observedSeq"> <path value="Sequence.observedSeq"/> <short value="Observed sequence"/> <definition value="Sequence that was observed."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality"> <path value="Sequence.quality"/> <short value="Sequence quality"/> <definition value="An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score ([SO:0001686](http://www.sequenceontology.org/browser/current_svn /term/SO:0001686))."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.standardSequence"> <path value="Sequence.quality.standardSequence"/> <short value="Standard sequence for comparison"/> <definition value="Gold standard sequence used for comparing against."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.start"> <path value="Sequence.quality.start"/> <short value="Start position (inclusive) of the sequence"/> <definition value="Start position (inclusive) of the sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.end"> <path value="Sequence.quality.end"/> <short value="End position (exclusive) of the sequence"/> <definition value="End position (exclusive) of the sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.score"> <path value="Sequence.quality.score"/> <short value="Quality score"/> <definition value="The score of an experimentally derived feature such as a p-value ([SO:0001685](http://www.sequenceon tology.org/browser/current_svn/term/SO:0001685))."/> <min value="0"/> <max value="1"/> <type> <code value="Quantity"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.method"> <path value="Sequence.quality.method"/> <short value="Method for quality"/> <definition value="Method for quality."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.truthTP"> <path value="Sequence.quality.truthTP"/> <short value="True positives from the perspective of the truth data"/> <definition value="True positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.queryTP"> <path value="Sequence.quality.queryTP"/> <short value="True positives from the perspective of the query data"/> <definition value="True positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.truthFN"> <path value="Sequence.quality.truthFN"/> <short value="False negatives"/> <definition value="False negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.queryFP"> <path value="Sequence.quality.queryFP"/> <short value="False positives"/> <definition value="False positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.gtFP"> <path value="Sequence.quality.gtFP"/> <short value="False positives where the non-REF alleles in the Truth and Query Call Sets match"/> <definition value="The number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar)."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.precision"> <path value="Sequence.quality.precision"/> <short value="Precision"/> <definition value="QUERY.TP / (QUERY.TP + QUERY.FP)."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.recall"> <path value="Sequence.quality.recall"/> <short value="Recall"/> <definition value="TRUTH.TP / (TRUTH.TP + TRUTH.FN)."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.quality.fScore"> <path value="Sequence.quality.fScore"/> <short value="F-score"/> <definition value="Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall)."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.readCoverage"> <path value="Sequence.readCoverage"/> <short value="Average number of reads representing a given nucleotide in the reconstructed sequence"/> <definition value="Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository"> <path value="Sequence.repository"/> <short value="External repository"/> <definition value="Configurations of the external repository."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository.url"> <path value="Sequence.repository.url"/> <short value="URI of the repository"/> <definition value="URI of an external repository which contains further details about the genetics data."/> <min value="0"/> <max value="1"/> <type> <code value="uri"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository.name"> <path value="Sequence.repository.name"/> <short value="Name of the repository"/> <definition value="URI of an external repository which contains further details about the genetics data."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository.variantId"> <path value="Sequence.repository.variantId"/> <short value="Id of the variant"/> <definition value="Id of the variant in this external repository."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.repository.readId"> <path value="Sequence.repository.readId"/> <short value="Id of the read"/> <definition value="Id of the read in this external repository."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.pointer"> <path value="Sequence.pointer"/> <short value="Pointer to next atomic sequence"/> <definition value="Pointer to next atomic sequence which at most contains one variant."/> <min value="0"/> <max value="*"/> <type> <code value="Reference"/> <profile value="http://hl7.org/fhir/StructureDefinition/Sequence"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant"> <path value="Sequence.structureVariant"/> <definition value="Structural variant."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.precisionOfBoundaries"> <path value="Sequence.structureVariant.precisionOfBoundaries"/> <short value="Precision of boundaries"/> <definition value="Precision of boundaries."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.reportedaCGHRatio"> <path value="Sequence.structureVariant.reportedaCGHRatio"/> <short value="Structural Variant reported aCGH ratio"/> <definition value="Structural Variant reported aCGH ratio."/> <min value="0"/> <max value="1"/> <type> <code value="decimal"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.length"> <path value="Sequence.structureVariant.length"/> <short value="Structural Variant Length"/> <definition value="Structural Variant Length."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.outer"> <path value="Sequence.structureVariant.outer"/> <definition value="Structural variant outer."/> <min value="0"/> <max value="1"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.outer.start"> <path value="Sequence.structureVariant.outer.start"/> <short value="Structural Variant Outer Start-End"/> <definition value="Structural Variant Outer Start-End."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.outer.end"> <path value="Sequence.structureVariant.outer.end"/> <short value="Structural Variant Outer Start-End"/> <definition value="Structural Variant Outer Start-End."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.inner"> <path value="Sequence.structureVariant.inner"/> <definition value="Structural variant inner."/> <min value="0"/> <max value="1"/> <type> <code value="BackboneElement"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.inner.start"> <path value="Sequence.structureVariant.inner.start"/> <short value="Structural Variant Inner Start-End"/> <definition value="Structural Variant Inner Start-End."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> <element id="Sequence.structureVariant.inner.end"> <path value="Sequence.structureVariant.inner.end"/> <short value="Structural Variant Inner Start-End"/> <definition value="Structural Variant Inner Start-End."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <isSummary value="true"/> </element> </differential> </StructureDefinition>
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.
© HL7.org 2011+. FHIR STU3 Ballot (v1.6.0-9663) generated on Thu, Aug 11, 2016 17:07+1000. QA Page
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