FHIR IG Statistics: OperationDefinition/find-subject-structural-intersecting-variants

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

Note: links and images are rebased to the (stated) source

Source

{
  "resourceType": "OperationDefinition",
  "id": "find-subject-structural-intersecting-variants",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 2,
      "_valueInteger": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode": "trial-use",
      "_valueCode": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    }
  ],
  "url": "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-structural-intersecting-variants",
  "version": "4.0.0-ballot",
  "name": "FindSubjectStructuralIntersectingVariants",
  "title": "Find Subject Structural Intersecting Variants",
  "status": "active",
  "kind": "operation",
  "date": "2025-06-24T17:31:37+00:00",
  "publisher": "HL7 International / Clinical Genomics",
  "contact": [
    {
      "name": "HL7 International / Clinical Genomics",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system": "email",
          "value": "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description": "Determine if structural variants are present that overlap range(s).",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "code": "match",
  "system": false,
  "type": true,
  "instance": false,
  "parameter": [
    {
      "name": "subject",
      "use": "in",
      "min": 1,
      "max": "1",
      "documentation": "The subject of interest.",
      "type": "string",
      "searchType": "reference"
    },
    {
      "name": "ranges",
      "use": "in",
      "min": 1,
      "max": "*",
      "documentation": "List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').",
      "type": "string",
      "searchType": "special"
    },
    {
      "name": "testIdentifiers",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "Supply a list of test identifiers. Only results originating from one of these tests will be returned.",
      "type": "string",
      "searchType": "token"
    },
    {
      "name": "testDateRange",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Supply a date range. Only results generated during this range will be returned.",
      "type": "Period"
    },
    {
      "name": "specimenIdentifiers",
      "use": "in",
      "min": 0,
      "max": "*",
      "documentation": "Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.",
      "type": "string",
      "searchType": "token"
    },
    {
      "name": "genomicSourceClass",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.",
      "type": "string",
      "searchType": "token"
    },
    {
      "name": "includeVariants",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Include variants in response if set to true. Default=false.",
      "type": "boolean"
    },
    {
      "name": "variants",
      "use": "out",
      "min": 1,
      "max": "*",
      "documentation": "(one for each range in rangeList)",
      "part": [
        {
          "name": "rangeItem",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "range from rangeList",
          "type": "string"
        },
        {
          "name": "presence",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "True if as least one variant is identified that intersects the range",
          "type": "boolean"
        },
        {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
            }
          ],
          "name": "variant",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "If includeVariants=true then include variants that intersect the range. Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant] and minimally include valueCodeableConcept; component:coding-change-type; component:genomic-ref-seq; component:coordinate-system (valued with '0-based interval counting'); components outer-start-end and/or inner-start-end.",
          "type": "Observation"
        }
      ]
    }
  ]
}