This page is part of the FHIR Specification (v3.0.2: STU 3). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3
Clinical Genomics Work Group | Maturity Level: N/A | Ballot Status: Informative | Compartments: Not linked to any defined compartments |
Example of another single varaint on a reference Sequence related to a haplotype observation in PGx example, which will form with the other haplotype data to be a diplotype observation. (id = "example-pgx-2")
<Sequence xmlns="http://hl7.org/fhir"> <id value="example-pgx-2"/> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative with Details</b> </p> <p> <b> id</b> : example-pgx-2</p> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 0</p> <p> <b> patient</b> : <a> Patient/example</a> </p> <h3> ReferenceSeqs</h3> <table> <tr> <td> -</td> <td> <b> ReferenceSeqId</b> </td> <td> <b> Strand</b> </td> <td> <b> WindowStart</b> </td> <td> <b> WindowEnd</b> </td> </tr> <tr> <td> *</td> <td> NG_007726.3 <span> (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NG_007726.3' = 'NG_007726.3)</span> </td> <td> 1</td> <td> 55227970</td> <td> 55227980</td> </tr> </table> <h3> Variants</h3> <table> <tr> <td> -</td> <td> <b> Start</b> </td> <td> <b> End</b> </td> <td> <b> ObservedAllele</b> </td> <td> <b> ReferenceAllele</b> </td> <td> <b> VariantPointer</b> </td> </tr> <tr> <td> *</td> <td> 55227978</td> <td> 55227979</td> <td> G</td> <td> T</td> <td> <a> Target Haplotype Observation</a> </td> </tr> </table> </div> </text> <type value="dna"/> <coordinateSystem value="0"/> <patient> <reference value="Patient/example"/> </patient> <referenceSeq> <referenceSeqId> <coding> <system value="http://www.ncbi.nlm.nih.gov/nuccore"/> <code value="NG_007726.3"/> </coding> </referenceSeqId> <strand value="1"/> <windowStart value="55227970"/> <windowEnd value="55227980"/> </referenceSeq> <variant> <start value="55227978"/> <end value="55227979"/> <observedAllele value="G"/> <referenceAllele value="T"/> <variantPointer> <reference value="Observation/example-haplotype2"/> <display value="Target Haplotype Observation"/> </variantPointer> </variant> </Sequence>
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.