This page is part of the FHIR Specification (v5.0.0-ballot: FHIR R5 Ballot Preview). 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
Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Patient |
Raw JSON (canonical form + also see JSON Format Specification)
MolecularSequence example for patient with breast cancer gene variant
{ "resourceType": "MolecularSequence", "id": "breastcancer", "text": { "status": "generated", "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"breastcancer\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource MolecularSequence "breastcancer" </p></div><p><b>type</b>: rna</p><p><b>subject</b>: <a href=\"todo.html\">Patient/brcapat</a></p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 0-based interval counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30100-4)</span></p><h3>StartingSequences</h3><table class=\"grid\"><tr><td>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NM_000059.3)</span></td><td>101488058</td><td>101499444</td></tr></table><h3>Edits</h3><table class=\"grid\"><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ReplacementSequence</b></td><td><b>ReplacedSequence</b></td></tr><tr><td>*</td><td>32316186</td><td>32316187</td><td>A</td><td>C</td></tr></table></blockquote></div>" }, "type": "rna", "subject": { "reference": "Patient/brcapat" }, "relative": [ { "coordinateSystem": { "coding": [ { "system": "http://loinc.org", "code": "LA30100-4", "display": "0-based interval counting" } ] }, "startingSequence": { "sequenceCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore/", "code": "NM_000059.3", "display": "Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA" } ] }, "windowStart": 101488058, "windowEnd": 101499444 }, "edit": [ { "start": 32316186, "end": 32316187, "replacementSequence": "A", "replacedSequence": "C" } ] } ] }
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.