Genomics Reporting Implementation Guide
3.0.0 - STU3
Genomics Reporting Implementation Guide
3.0.0 - STU3
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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
| Active as of 2024-12-12 |
<OperationDefinition xmlns="http://hl7.org/fhir">
<id value="find-population-specific-variants"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: OperationDefinition find-population-specific-variants</b></p><a name="find-population-specific-variants"> </a><a name="hcfind-population-specific-variants"> </a><a name="find-population-specific-variants-en-US"> </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>variants</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#string">string</a>)</td><td/><td><div><p>List of variants being sought. Must be in HGVS or SPDI format.</p>
</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>
</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>
</div></td></tr><tr><td>OUT</td><td>variants</td><td/><td>1..*</td><td></td><td/><td/></tr><tr><td>OUT</td><td>variants.variantItem</td><td/><td>1..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a></td><td/><td><div><p>variant from variantList</p>
</div></td></tr><tr><td>OUT</td><td>variants.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>
</div></td></tr><tr><td>OUT</td><td>variants.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>
</div></td></tr><tr><td>OUT</td><td>variants.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>
</div></td></tr></table></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
<valueCode value="cg"/>
</extension>
<url
value="http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-specific-variants"/>
<version value="3.0.0"/>
<name value="FindPopulationSpecificVariants"/>
<title value="Find Population Specific Variants"/>
<status value="active"/>
<kind value="operation"/>
<date value="2024-12-12T20:13:16+00:00"/>
<publisher value="HL7 International / Clinical Genomics"/>
<contact>
<name value="HL7 International / Clinical Genomics"/>
<telecom>
<system value="url"/>
<value value="http://www.hl7.org/Special/committees/clingenomics"/>
</telecom>
<telecom>
<system value="email"/>
<value value="cg@lists.HL7.org"/>
</telecom>
</contact>
<description
value="Retrieve count or list of patients having specified variants."/>
<jurisdiction>
<coding>
<system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
<code value="001"/>
<display value="World"/>
</coding>
</jurisdiction>
<code value="match"/>
<system value="false"/>
<type value="true"/>
<instance value="false"/>
<parameter>
<name value="variants"/>
<use value="in"/>
<min value="1"/>
<max value="*"/>
<documentation
value="List of variants being sought. Must be in HGVS or SPDI format."/>
<type value="string"/>
<searchType value="string"/>
</parameter>
<parameter>
<name value="genomicSourceClass"/>
<use value="in"/>
<min value="0"/>
<max value="1"/>
<documentation
value="Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class."/>
<type value="string"/>
<searchType value="token"/>
</parameter>
<parameter>
<name value="includePatientList"/>
<use value="in"/>
<min value="0"/>
<max value="1"/>
<documentation
value="Include list of matching patients if set to true. Default=false."/>
<type value="boolean"/>
</parameter>
<parameter>
<name value="variants"/>
<use value="out"/>
<min value="1"/>
<max value="*"/>
<part>
<name value="variantItem"/>
<use value="out"/>
<min value="1"/>
<max value="1"/>
<documentation value="variant from variantList"/>
<type value="string"/>
</part>
<part>
<name value="numerator"/>
<use value="out"/>
<min value="1"/>
<max value="1"/>
<documentation value="Count of patients having this variant"/>
<type value="Quantity"/>
</part>
<part>
<name value="denominator"/>
<use value="out"/>
<min value="0"/>
<max value="1"/>
<documentation value="Count of patients in the cohort searched"/>
<type value="Quantity"/>
</part>
<part>
<name value="subject"/>
<use value="out"/>
<min value="0"/>
<max value="*"/>
<documentation value="Patient ID. Include if includePatientList=true"/>
<type value="string"/>
</part>
</parameter>
</OperationDefinition>
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0 based on FHIR 4.0.1. Generated 2024-12-12
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