{ "description": null, "_filename": "OperationDefinition-find-subject-variants.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2021-04-13T19:13:37+00:00", "system": false, "publisher": "HL7 International Clinical Genomics Work Group", "instance": false, "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm" } ] } ], "name": "FindSubjectVariants", "type": "true", "experimental": null, "resourceType": "OperationDefinition", "title": "Find Subject Variants", "package_version": "1.1.0", "status": "active", "id": "1ae8922d-c82c-4632-ae23-90b7d9a33860", "kind": "operation", "url": "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-variants", "code": "match", "version": "1.1.0", "contact": [ { "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" } ] } ], "parameter": [ { "max": "1", "min": 1, "use": "in", "name": "subject", "type": "string", "searchType": "reference", "documentation": "The subject of interest." }, { "max": "1", "min": 1, "use": "in", "name": "region", "type": "Range", "documentation": "Region of interest is specified as a 0-based integer interval range. Variants that overlap the range are returned." }, { "max": "1", "min": 1, "use": "in", "name": "genomicRefSeq", "type": "string", "searchType": "token", "documentation": "Genomic reference sequence is a valid NCBI chromosome-level ('NC_') build 37 or build 38 identifier, or a valid mitochondrion identifier (NC_012920.1, NC_001807.4)" }, { "max": "*", "min": 0, "use": "out", "name": "regionStudied", "type": "canonical", "documentation": "[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied] Must include 1..* component:ranges-examined; 1..1 component:coordinate-system (valued with '0-based interval counting'); 1..1 component:genomic-ref-seq.", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied" ] }, { "max": "*", "min": 0, "use": "out", "name": "variant", "type": "canonical", "documentation": "[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant] Must include valueCodeableConcept; component:genomic-source-class; component:genomic-ref-seq; component:allelic-state; component:ref-allele; component:alt-allele; component:coordinate-system (valued with '0-based interval counting'); component:exact-start-end.", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ] }, { "max": "*", "min": 0, "use": "out", "name": "sequencePhaseRelationship", "type": "canonical", "documentation": "[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship] Must include valueCodeableConcept; 2..2 derivedFrom:variant.", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship" ] } ] }