Genomics Reporting Implementation Guide
2.0.0 - trial-use
Genomics Reporting Implementation Guide
2.0.0 - trial-use
This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions 
<OperationDefinition xmlns="http://hl7.org/fhir">
<id value="find-subject-variants"/>
<text>
<status value="extensions"/>
<div xmlns="http://www.w3.org/1999/xhtml"><h2>FindSubjectVariants</h2><p>OPERATION: FindSubjectVariants</p><p>The official URL for this operation definition is: </p><pre>http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-variants</pre><p>Parameters</p><table class="grid"><tr><td><b>Use</b></td><td><b>Name</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>subject</td><td>1..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#reference">reference</a>)</td><td/><td><div><p>The subject of interest.</p>
</div></td></tr><tr><td>IN</td><td>region</td><td>1..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#Range">Range</a></td><td/><td><div><p>Region of interest is specified as a 0-based integer interval range. Variants that overlap the range are returned.</p>
</div></td></tr><tr><td>IN</td><td>genomicRefSeq</td><td>1..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>Genomic reference sequence is a valid NCBI chromosome-level ('NC_') build 37 or build 38 identifier, or a valid mitochondrion identifier (NC_012920.1, NC_001807.4)</p>
</div></td></tr><tr><td>OUT</td><td>regionStudied</td><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#canonical">canonical</a></td><td/><td><div><p>[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied] Must include 1..* component:ranges-examined; 1..1 component:coordinate-system (valued with '0-based interval counting'); 1..1 component:genomic-ref-seq.</p>
</div></td></tr><tr><td>OUT</td><td>variant</td><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#canonical">canonical</a></td><td/><td><div><p>[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant] Must include valueCodeableConcept; component:genomic-source-class; component:genomic-ref-seq; component:allelic-state; component:ref-allele; component:alt-allele; component:coordinate-system (valued with '0-based interval counting'); component:exact-start-end.</p>
</div></td></tr><tr><td>OUT</td><td>sequencePhaseRelationship</td><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#canonical">canonical</a></td><td/><td><div><p>[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship] Must include valueCodeableConcept; 2..2 derivedFrom:variant.</p>
</div></td></tr></table></div>
</text>
<url
value="http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-variants"/>
<version value="2.0.0"/>
<name value="FindSubjectVariants"/>
<title value="Find Subject Variants"/>
<status value="active"/>
<kind value="operation"/>
<date value="2022-05-09T16:59:16+00:00"/>
<publisher value="HL7 Clinical Genomics Working Group"/>
<contact>
<name value="HL7 Clinical Genomics Working Group"/>
<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>
<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="subject"/>
<use value="in"/>
<min value="1"/>
<max value="1"/>
<documentation value="The subject of interest."/>
<type value="string"/>
<searchType value="reference"/>
</parameter>
<parameter>
<name value="region"/>
<use value="in"/>
<min value="1"/>
<max value="1"/>
<documentation
value="Region of interest is specified as a 0-based integer interval range. Variants that overlap the range are returned."/>
<type value="Range"/>
</parameter>
<parameter>
<name value="genomicRefSeq"/>
<use value="in"/>
<min value="1"/>
<max value="1"/>
<documentation
value="Genomic reference sequence is a valid NCBI chromosome-level ('NC_') build 37 or build 38 identifier, or a valid mitochondrion identifier (NC_012920.1, NC_001807.4)"/>
<type value="string"/>
<searchType value="token"/>
</parameter>
<parameter>
<name value="regionStudied"/>
<use value="out"/>
<min value="0"/>
<max value="*"/>
<documentation
value="[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied] Must include 1..* component:ranges-examined; 1..1 component:coordinate-system (valued with '0-based interval counting'); 1..1 component:genomic-ref-seq."/>
<type value="canonical"/>
<targetProfile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"/>
</parameter>
<parameter>
<name value="variant"/>
<use value="out"/>
<min value="0"/>
<max value="*"/>
<documentation
value="[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant] Must include valueCodeableConcept; component:genomic-source-class; component:genomic-ref-seq; component:allelic-state; component:ref-allele; component:alt-allele; component:coordinate-system (valued with '0-based interval counting'); component:exact-start-end."/>
<type value="canonical"/>
<targetProfile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/>
</parameter>
<parameter>
<name value="sequencePhaseRelationship"/>
<use value="out"/>
<min value="0"/>
<max value="*"/>
<documentation
value="[Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship] Must include valueCodeableConcept; 2..2 derivedFrom:variant."/>
<type value="canonical"/>
<targetProfile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship"/>
</parameter>
</OperationDefinition>
IG © 2022+ HL7 Clinical Genomics Working Group. Package hl7.fhir.uv.genomics-reporting#2.0.0 based on FHIR 4.0.1. Generated 2022-05-09
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