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

Packagehl7.fhir.uv.genomics-reporting
Resource TypeOperationDefinition
Idfind-population-structural-intersecting-variants
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-population-structural-intersecting-variants.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-structural-intersecting-variants
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameFindPopulationStructuralIntersectingVariants
TitleFind Population Structural Intersecting Variants
Realmuv
Authorityhl7
DescriptionRetrieve count or list of patients having structural intersecting variants in specified regions.
Typetrue
Kindoperation

Resources that use this resource

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Resources that this resource uses

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Narrative

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

Generated Narrative: OperationDefinition find-population-structural-intersecting-variants

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INranges1..*string
(special)

List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').

INgenomicSourceClass0..1string
(token)

Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.

INincludePatientList0..1boolean

Include list of matching patients if set to true. Default=false.

OUTvariants1..*
OUTvariants.rangeItem1..1string

range from rangeList

OUTvariants.numerator1..1Quantity

Count of patients having this variant

OUTvariants.denominator0..1Quantity

Count of patients in the cohort searched

OUTvariants.subject0..*string

Patient ID. Include if includePatientList=true


Source

{
  "resourceType": "OperationDefinition",
  "id": "find-population-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",
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          }
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      }
    }
  ],
  "url": "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-structural-intersecting-variants",
  "version": "4.0.0-ballot",
  "name": "FindPopulationStructuralIntersectingVariants",
  "title": "Find Population 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": "Retrieve count or list of patients having structural intersecting variants in specified regions.",
  "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": "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": "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": "includePatientList",
      "use": "in",
      "min": 0,
      "max": "1",
      "documentation": "Include list of matching patients if set to true. Default=false.",
      "type": "boolean"
    },
    {
      "name": "variants",
      "use": "out",
      "min": 1,
      "max": "*",
      "part": [
        {
          "name": "rangeItem",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "range from rangeList",
          "type": "string"
        },
        {
          "name": "numerator",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "Count of patients having this variant",
          "type": "Quantity"
        },
        {
          "name": "denominator",
          "use": "out",
          "min": 0,
          "max": "1",
          "documentation": "Count of patients in the cohort searched",
          "type": "Quantity"
        },
        {
          "name": "subject",
          "use": "out",
          "min": 0,
          "max": "*",
          "documentation": "Patient ID. Include if includePatientList=true",
          "type": "string"
        }
      ]
    }
  ]
}