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

Generated Narrative

Resource "sequence-complex-variant"

identifier: id: ?ngen-9? (OFFICIAL)

type: dna

coordinateSystem: 1

specimen: Specimen/genetics-example1-somatic: Molecular Specimen ID: MLD45-Z4-1234

device: : 12 lead EKG Device Metric

performer: Organization/hl7: HL7 "Health Level Seven International"

quantity: 25

ReferenceSeqs

-ReferenceSeqIdStrandWindowStartWindowEnd
*NC_000002.12 (nuccore#NC_000002.12)watson128273724128273754

Variants

-StartEndObservedAlleleReferenceAlleleCigar
*128273724128273736CTCATTGTCTCCATTGCATGCGTT3M1D4M6N2M

readCoverage: 1

Repositories

-TypeDatasetIdReadsetId
*otherEnsemblv1beta2
" ]; fhir:MolecularSequence.identifier [ fhir:index 0; fhir:Identifier.use [ fhir:value "official" ] ]; fhir:MolecularSequence.type [ fhir:value "dna"]; fhir:MolecularSequence.coordinateSystem [ fhir:value "1"^^xsd:integer]; fhir:MolecularSequence.specimen [ fhir:link ; fhir:Reference.reference [ fhir:value "Specimen/genetics-example1-somatic" ]; fhir:Reference.display [ fhir:value "Molecular Specimen ID: MLD45-Z4-1234" ] ]; fhir:MolecularSequence.device [ fhir:Reference.display [ fhir:value "12 lead EKG Device Metric" ] ]; fhir:MolecularSequence.performer [ fhir:link ; fhir:Reference.reference [ fhir:value "Organization/hl7" ]; fhir:Reference.display [ fhir:value "HL7" ] ]; fhir:MolecularSequence.quantity [ fhir:Quantity.value [ fhir:value "25"^^xsd:decimal ] ]; 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 "NC_000002.12" ] ] ]; fhir:MolecularSequence.referenceSeq.strand [ fhir:value "watson" ]; fhir:MolecularSequence.referenceSeq.windowStart [ fhir:value "128273724"^^xsd:integer ]; fhir:MolecularSequence.referenceSeq.windowEnd [ fhir:value "128273754"^^xsd:integer ] ]; fhir:MolecularSequence.variant [ fhir:index 0; fhir:MolecularSequence.variant.start [ fhir:value "128273724"^^xsd:integer ]; fhir:MolecularSequence.variant.end [ fhir:value "128273736"^^xsd:integer ]; fhir:MolecularSequence.variant.observedAllele [ fhir:value "CTCATTGT" ]; fhir:MolecularSequence.variant.referenceAllele [ fhir:value "CTCCATTGCATGCGTT" ]; fhir:MolecularSequence.variant.cigar [ fhir:value "3M1D4M6N2M" ] ]; fhir:MolecularSequence.readCoverage [ fhir:value "1"^^xsd:integer]; fhir:MolecularSequence.repository [ fhir:index 0; fhir:MolecularSequence.repository.type [ fhir:value "other" ]; fhir:MolecularSequence.repository.datasetId [ fhir:value "Ensembl" ]; fhir:MolecularSequence.repository.readsetId [ fhir:value "v1beta2" ] ] . a fhir:Specimen . a fhir:Organization . # - ontology header ------------------------------------------------------------ a owl:Ontology; owl:imports fhir:fhir.ttl; owl:versionIRI . # -------------------------------------------------------------------------------------