@prefix fhir: . @prefix owl: . @prefix rdfs: . @prefix xsd: . # - resource ------------------------------------------------------------------- a fhir:MolecularSequence; fhir:nodeRole fhir:treeRoot; fhir:Resource.id [ fhir:value "example-pgx-1"]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "

Generated Narrative

Resource "example-pgx-1"

type: dna

coordinateSystem: 0

patient: Patient/example "Peter CHALMERS"

ReferenceSeqs

-OrientationReferenceSeqIdStrandWindowStartWindowEnd
*senseNG_007726.3 (nuccore#NG_007726.3)watson5522797055227980

Variants

-StartEndObservedAlleleReferenceAlleleVariantPointer
*5522797655227977GTObservation/example-haplotype1: Target Haplotype Observation
" ]; fhir:MolecularSequence.type [ fhir:value "dna"]; fhir:MolecularSequence.coordinateSystem [ fhir:value "0"^^xsd:integer]; fhir:MolecularSequence.patient [ fhir:link ; fhir:Reference.reference [ fhir:value "Patient/example" ] ]; fhir:MolecularSequence.referenceSeq [ fhir:MolecularSequence.referenceSeq.orientation [ fhir:value "sense" ]; 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 "NG_007726.3" ] ] ]; fhir:MolecularSequence.referenceSeq.strand [ fhir:value "watson" ]; fhir:MolecularSequence.referenceSeq.windowStart [ fhir:value "55227970"^^xsd:integer ]; fhir:MolecularSequence.referenceSeq.windowEnd [ fhir:value "55227980"^^xsd:integer ] ]; fhir:MolecularSequence.variant [ fhir:index 0; fhir:MolecularSequence.variant.start [ fhir:value "55227976"^^xsd:integer ]; fhir:MolecularSequence.variant.end [ fhir:value "55227977"^^xsd:integer ]; fhir:MolecularSequence.variant.observedAllele [ fhir:value "G" ]; fhir:MolecularSequence.variant.referenceAllele [ fhir:value "T" ]; fhir:MolecularSequence.variant.variantPointer [ fhir:link ; fhir:Reference.reference [ fhir:value "Observation/example-haplotype1" ]; fhir:Reference.display [ fhir:value "Target Haplotype Observation" ] ] ] . a fhir:Patient . a fhir:Observation . # - ontology header ------------------------------------------------------------ a owl:Ontology; owl:imports fhir:fhir.ttl; owl:versionIRI . # -------------------------------------------------------------------------------------