This page is part of the FHIR Specification (v4.3.0-snapshot1: Release 4B Snapshot #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 R3
Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Patient |
Raw Turtle (+ also see Turtle/RDF Format Specification)
Example of a record with 1-based coordinatesystem
@prefix fhir: <http://hl7.org/fhir/> . @prefix owl: <http://www.w3.org/2002/07/owl#> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- <http://hl7.org/fhir/MolecularSequence/coord-1-base> a fhir:MolecularSequence; fhir:nodeRole fhir:treeRoot; fhir:Resource.id [ fhir:value "coord-1-base"]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div><p>Resource "coord-1-base" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 1</p><h3>ReferenceSeqs</h3><table><tr><td>-</td><td><b>ReferenceSeqString</b></td><td><b>Strand</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>ACGTAGTC</td><td>watson</td><td>1</td><td>8</td></tr></table><blockquote><p><b>variant</b></p><p><b>start</b>: 2</p><p><b>end</b>: 3</p><p><b>observedAllele</b>: ATG</p><p><b>referenceAllele</b>: -</p><p><b>cigar</b>: 3I</p></blockquote><blockquote><p><b>variant</b></p><p><b>start</b>: 5</p><p><b>end</b>: 5</p><p><b>observedAllele</b>: T</p><p><b>referenceAllele</b>: A</p><p><b>cigar</b>: 3I</p></blockquote><blockquote><p><b>variant</b></p><p><b>start</b>: 7</p><p><b>end</b>: 7</p><p><b>observedAllele</b>: -</p><p><b>referenceAllele</b>: T</p><p><b>cigar</b>: 1D</p></blockquote><p><b>observedSeq</b>: ACATGGTAGC</p></div>" ]; fhir:MolecularSequence.type [ fhir:value "dna"]; fhir:MolecularSequence.coordinateSystem [ fhir:value "1"^^xsd:integer]; fhir:MolecularSequence.referenceSeq [ fhir:MolecularSequence.referenceSeq.referenceSeqString [ fhir:value "ACGTAGTC" ]; fhir:MolecularSequence.referenceSeq.strand [ fhir:value "watson" ]; fhir:MolecularSequence.referenceSeq.windowStart [ fhir:value "1"^^xsd:integer ]; fhir:MolecularSequence.referenceSeq.windowEnd [ fhir:value "8"^^xsd:integer ] ]; fhir:MolecularSequence.variant [ fhir:index 0; fhir:MolecularSequence.variant.start [ fhir:value "2"^^xsd:integer ]; fhir:MolecularSequence.variant.end [ fhir:value "3"^^xsd:integer ]; fhir:MolecularSequence.variant.observedAllele [ fhir:value "ATG" ]; fhir:MolecularSequence.variant.referenceAllele [ fhir:value "-" ]; fhir:MolecularSequence.variant.cigar [ fhir:value "3I" ] ], [ fhir:index 1; fhir:MolecularSequence.variant.start [ fhir:value "5"^^xsd:integer ]; fhir:MolecularSequence.variant.end [ fhir:value "5"^^xsd:integer ]; fhir:MolecularSequence.variant.observedAllele [ fhir:value "T" ]; fhir:MolecularSequence.variant.referenceAllele [ fhir:value "A" ]; fhir:MolecularSequence.variant.cigar [ fhir:value "3I" ] ], [ fhir:index 2; fhir:MolecularSequence.variant.start [ fhir:value "7"^^xsd:integer ]; fhir:MolecularSequence.variant.end [ fhir:value "7"^^xsd:integer ]; fhir:MolecularSequence.variant.observedAllele [ fhir:value "-" ]; fhir:MolecularSequence.variant.referenceAllele [ fhir:value "T" ]; fhir:MolecularSequence.variant.cigar [ fhir:value "1D" ] ]; fhir:MolecularSequence.observedSeq [ fhir:value "ACATGGTAGC"] . # - ontology header ------------------------------------------------------------ <http://hl7.org/fhir/MolecularSequence/coord-1-base.ttl> a owl:Ontology; owl:imports fhir:fhir.ttl; owl:versionIRI <http://build.fhir.org/MolecularSequence/coord-1-base.ttl> . # -------------------------------------------------------------------------------------
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.