This page is part of the FHIR Specification (v4.1.0: Release 4B Ballot #1). 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 XML (canonical form + also see XML Format Specification)
Simple sequence example (id = "example")
<?xml version="1.0" encoding="UTF-8"?> <MolecularSequence xmlns="http://hl7.org/fhir"> <id value="example"/> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative</b> </p> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 0</p> <p> <b> patient</b> : <a> Generated Summary: Medical record number: 12345 (USUAL); active; Peter James Chalmers (OFFICIAL), Jim , Peter James Windsor (MAIDEN); , Phone: (03) 5555 6473, Phone: (03) 3410 5613, Phone: (03) 5555 8834; gender: male; birthDate: 1974-12-25; </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> <span> NC_000009.11</span> </td> <td> watson</td> <td> 22125500</td> <td> 22125510</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> </tr> <tr> <td> *</td> <td> 22125503</td> <td> 22125504</td> <td> C</td> <td> G</td> </tr> </table> <h3> Repositories</h3> <table> <tr> <td> -</td> <td> <b> Type</b> </td> <td> <b> Url</b> </td> <td> <b> Name</b> </td> <td> <b> VariantsetId</b> </td> </tr> <tr> <td> *</td> <td> openapi</td> <td> <a> http://grch37.rest.ensembl.org/ga4gh/variants/3:rs1333049?content-type=application/json</a> </td> <td> GA4GH API</td> <td> 3:rs1333049</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="NC_000009.11"/> </coding> </referenceSeqId> <strand value="watson"/> <windowStart value="22125500"/> <windowEnd value="22125510"/> </referenceSeq> <variant> <start value="22125503"/> <end value="22125504"/> <observedAllele value="C"/> <referenceAllele value="G"/> </variant> <repository> <type value="openapi"/> <url value="http://grch37.rest.ensembl.org/ga4gh/variants/3:rs1333049?content-type=application/json"/> <name value="GA4GH API"/> <variantsetId value="3:rs1333049"/> </repository> </MolecularSequence>
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.