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Clinical Genomics Work Group | Maturity Level: N/A | Ballot Status: Informative | Compartments: Not linked to any defined compartments |
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Example of another TPMT SNP data that support a haplotype observation
@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/Sequence/example-TPMT-two> a fhir:Sequence; fhir:nodeRole fhir:treeRoot; fhir:Resource.id [ fhir:value "example-TPMT-two"]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example-TPMT-two</p><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 1</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>NT_007592.15 <span>(Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NT_007592.15' = 'NT_007592.15)</span></td><td>watson</td><td>18130918</td><td>18143955</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>18131012</td><td>18131012</td><td>T</td><td>C</td></tr></table><p><b>observedSeq</b>: T-C-T-C-G-C-C-C</p></div>" ]; fhir:Sequence.type [ fhir:value "dna"]; fhir:Sequence.coordinateSystem [ fhir:value "1"^^xsd:integer]; fhir:Sequence.patient [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ] ]; fhir:Sequence.referenceSeq [ fhir:Sequence.referenceSeq.referenceSeqId [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/nuccore" ]; fhir:Coding.code [ fhir:value "NT_007592.15" ] ] ]; fhir:Sequence.referenceSeq.strand [ fhir:value "watson" ]; fhir:Sequence.referenceSeq.windowStart [ fhir:value "18130918"^^xsd:integer ]; fhir:Sequence.referenceSeq.windowEnd [ fhir:value "18143955"^^xsd:integer ] ]; fhir:Sequence.variant [ fhir:index 0; fhir:Sequence.variant.start [ fhir:value "18131012"^^xsd:integer ]; fhir:Sequence.variant.end [ fhir:value "18131012"^^xsd:integer ]; fhir:Sequence.variant.observedAllele [ fhir:value "T" ]; fhir:Sequence.variant.referenceAllele [ fhir:value "C" ] ]; fhir:Sequence.observedSeq [ fhir:value "T-C-T-C-G-C-C-C"] . <http://hl7.org/fhir/Patient/example> a fhir:Patient . # - ontology header ------------------------------------------------------------ <http://hl7.org/fhir/Sequence/example-TPMT-two.ttl> a owl:Ontology; owl:imports fhir:fhir.ttl; owl:versionIRI <http://build.fhir.org/Sequence/example-TPMT-two.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.