FHIR © HL7.org  |  Server Home  |  XIG Home  |  XIG Stats  |  Server Source  |  FHIR  

FHIR IG Statistics: OperationDefinition/find-population-specific-variants

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

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

Generated Narrative: OperationDefinition find-population-specific-variants

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INvariants1..*string
(string)

List of variants being sought. Must be in HGVS or SPDI format.

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.variantItem1..1string

variant from variantList

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-specific-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-population-specific-variants",
  "version": "4.0.0-ballot",
  "name": "FindPopulationSpecificVariants",
  "title": "Find Population Specific 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 specified variants.",
  "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": "variants",
      "use": "in",
      "min": 1,
      "max": "*",
      "documentation": "List of variants being sought. Must be in HGVS or SPDI format.",
      "type": "string",
      "searchType": "string"
    },
    {
      "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": "variantItem",
          "use": "out",
          "min": 1,
          "max": "1",
          "documentation": "variant from variantList",
          "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"
        }
      ]
    }
  ]
}