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Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: No defined compartments |
Raw Turtle (+ also see Turtle/RDF Format Specification)
Example of Allele including slices
@prefix fhir: <http://hl7.org/fhir/> . @prefix loinc: <https://loinc.org/rdf/> . @prefix owl: <http://www.w3.org/2002/07/owl#> . @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- <http://hl7.org/fhir/MolecularDefinition/example-allelesliced1> a fhir:MolecularDefinition ; fhir:nodeRole fhir:treeRoot ; fhir:id [ fhir:v "example-allelesliced1"] ; # fhir:moleculeType [ fhir:coding ( [ fhir:system [ fhir:v "http://hl7.org/fhir/sequence-type"^^xsd:anyURI ] ; fhir:code [ fhir:v "dna" ] ; fhir:display [ fhir:v "DNA Sequence" ] ] ) ] ; # fhir:location ( [ fhir:sequenceLocation [ fhir:sequenceContext [ fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence-lrg584> ; fhir:reference [ fhir:v "MolecularDefinition/example-sequence-lrg584" ] ; fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ; fhir:display [ fhir:v "Starting Sequence Resource: LRG_584" ] ] ; fhir:coordinateInterval [ fhir:coordinateSystem [ fhir:system [ fhir:coding ( [ a loinc:LA30100-4 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "LA30100-4" ] ; fhir:display [ fhir:v "0-based interval counting" ] ] ) ; fhir:text [ fhir:v "0-based interval counting" ] ] ] ; fhir:start [ a fhir:Quantity ; fhir:value [ fhir:v "5001"^^xsd:decimal ] ] ; fhir:end [ a fhir:Quantity ; fhir:value [ fhir:v "97867"^^xsd:decimal ] ] ] ] ] ) ; # fhir:representation ( [ fhir:focus [ fhir:coding ( [ fhir:code [ fhir:v "allele-state" ] ; fhir:display [ fhir:v "Allele State" ] ] ) ] ; fhir:resolvable [ fhir:link <http://hl7.org/fhir/DocumentReference/example-genomicFile-ng0083843> ; fhir:reference [ fhir:v "DocumentReference/example-genomicFile-ng0083843" ] ] ] [ fhir:focus [ fhir:coding ( [ fhir:code [ fhir:v "context-state" ] ; fhir:display [ fhir:v "Context State" ] ] ) ] ; fhir:relative [ fhir:startingMolecule [ fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence-lrg584> ; fhir:reference [ fhir:v "MolecularDefinition/example-sequence-lrg584" ] ; fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ; fhir:display [ fhir:v "Starting Sequence Resource: LRG_584" ] ] ; fhir:edit ( [ fhir:coordinateInterval [ fhir:coordinateSystem [ fhir:system [ fhir:coding ( [ a loinc:LA30100-4 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "LA30100-4" ] ; fhir:display [ fhir:v "0-based interval counting" ] ] ) ; fhir:text [ fhir:v "0-based interval counting" ] ] ] ] ; fhir:replacementMolecule [ fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence-t> ; fhir:reference [ fhir:v "MolecularDefinition/example-sequence-t" ] ; fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ; fhir:display [ fhir:v "Replacement Sequence Resource: T" ] ] ; fhir:replacedMolecule [ fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence-c> ; fhir:reference [ fhir:v "MolecularDefinition/example-sequence-c" ] ; fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ; fhir:display [ fhir:v "Replaced Sequence Resource: C" ] ] ] ) ] ] ) . # <http://hl7.org/fhir/MolecularDefinition/example-sequence-lrg584> a fhir:MolecularDefinition . <http://hl7.org/fhir/DocumentReference/example-genomicFile-ng0083843> a fhir:DocumentReference . <http://hl7.org/fhir/MolecularDefinition/example-sequence-t> a fhir:MolecularDefinition . <http://hl7.org/fhir/MolecularDefinition/example-sequence-c> a fhir:MolecularDefinition . # -------------------------------------------------------------------------------------
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.
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