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Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Patient |
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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/MolecularSequence/example-TPMT-two> a fhir:MolecularSequence; 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</b></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 "example-TPMT-two" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 1</p><p><b>patient</b>: <a href=\"patient-example.html\">Patient/example</a> "Peter CHALMERS"</p><h3>ReferenceSeqs</h3><table class=\"grid\"><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 style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NT_007592.15)</span></td><td>watson</td><td>18130918</td><td>18143955</td></tr></table><h3>Variants</h3><table class=\"grid\"><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:MolecularSequence.type [ fhir:value "dna"]; fhir:MolecularSequence.coordinateSystem [ fhir:value "1"^^xsd:integer]; fhir:MolecularSequence.patient [ fhir:link <http://hl7.org/fhir/Patient/example>; fhir:Reference.reference [ fhir:value "Patient/example" ] ]; fhir:MolecularSequence.referenceSeq [ fhir:MolecularSequence.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:MolecularSequence.referenceSeq.strand [ fhir:value "watson" ]; fhir:MolecularSequence.referenceSeq.windowStart [ fhir:value "18130918"^^xsd:integer ]; fhir:MolecularSequence.referenceSeq.windowEnd [ fhir:value "18143955"^^xsd:integer ] ]; fhir:MolecularSequence.variant [ fhir:index 0; fhir:MolecularSequence.variant.start [ fhir:value "18131012"^^xsd:integer ]; fhir:MolecularSequence.variant.end [ fhir:value "18131012"^^xsd:integer ]; fhir:MolecularSequence.variant.observedAllele [ fhir:value "T" ]; fhir:MolecularSequence.variant.referenceAllele [ fhir:value "C" ] ]; fhir:MolecularSequence.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/MolecularSequence/example-TPMT-two.ttl> a owl:Ontology; owl:imports fhir:fhir.ttl; owl:versionIRI <http://build.fhir.org/MolecularSequence/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.