Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

Page standards status: Trial-use | Maturity Level: 2

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    {
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        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: OperationDefinition find-population-specific-haplotypes</b></p><a name=\"find-population-specific-haplotypes\"> </a><a name=\"hcfind-population-specific-haplotypes\"> </a><h3>Parameters</h3><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=\"https://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=\"https://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><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>"
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      "name" : "FindPopulationSpecificHaplotypes",
      "title" : "Find Population Specific Haplotypes",
      "status" : "active",
      "kind" : "operation",
      "date" : "2025-11-08T00:09:50+00:00",
      "publisher" : "HL7 International / Clinical Genomics",
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