Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: Find Population Specific Haplotypes - JSON Representation

Active as of 2024-04-09

Raw json | Download


{
  "resourceType" : "OperationDefinition",
  "id" : "find-population-specific-haplotypes",
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>Parameters</p><table class=\"grid\"><tr><td><b>Use</b></td><td><b>Name</b></td><td><b>Scope</b></td><td><b>Cardinality</b></td><td><b>Type</b></td><td><b>Binding</b></td><td><b>Documentation</b></td></tr><tr><td>IN</td><td>haplotypes</td><td/><td>1..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"http://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format.</p>\n</div></td></tr><tr><td>IN</td><td>genomicSourceClass</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"http://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.</p>\n</div></td></tr><tr><td>IN</td><td>includePatientList</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#boolean\">boolean</a></td><td/><td><div><p>Include list of matching patients if set to true. Default=false.</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes</td><td/><td>1..*</td><td></td><td/><td><div><p>(one for each haplotype in haplotypeList)</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.haplotypeItem</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>haplotype/genotype from haplotypeList</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.numerator</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#Quantity\">Quantity</a></td><td/><td><div><p>Count of patients having this variant</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.denominator</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#Quantity\">Quantity</a></td><td/><td><div><p>Count of patients in the cohort searched</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.subject</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>Patient ID. Include if includePatientList=true</p>\n</div></td></tr></table></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-specific-haplotypes",
  "version" : "3.0.1-SNAPSHOT",
  "name" : "FindPopulationSpecificHaplotypes",
  "title" : "Find Population Specific Haplotypes",
  "status" : "active",
  "kind" : "operation",
  "date" : "2024-04-09T13:57:55+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 genotypes/haplotypes.",
  "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" : "haplotypes",
      "use" : "in",
      "min" : 1,
      "max" : "*",
      "documentation" : "List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format.",
      "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" : "includePatientList",
      "use" : "in",
      "min" : 0,
      "max" : "1",
      "documentation" : "Include list of matching patients if set to true. Default=false.",
      "type" : "boolean"
    },
    {
      "name" : "haplotypes",
      "use" : "out",
      "min" : 1,
      "max" : "*",
      "documentation" : "(one for each haplotype in haplotypeList)",
      "part" : [
        {
          "name" : "haplotypeItem",
          "use" : "out",
          "min" : 1,
          "max" : "1",
          "documentation" : "haplotype/genotype from haplotypeList",
          "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"
        }
      ]
    }
  ]
}