<status value="draft" /> <description value="Details about a set of changes in the tested sample compared to a reference sequence." /> <copyright value="This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc." /> <fhirVersion value="4.0.1" /> <kind value="resource" /> <abstract value="false" /> <type value="Observation" /> <baseDefinition value="https://fhir.gsilab.id//StructureDefinition/genomic-base" /> <derivation value="constraint" /> <differential> <element id="Observation.component"> <path value="Observation.component" /> <slicing> <discriminator> <type value="value" /> <path value="code" /> </discriminator> <description value="Slice based on the component.code pattern" /> <rules value="open" /> </slicing> </element> <element id="Observation.component:representative-coding-hgvs"> <path value="Observation.component" /> <sliceName value="representative-coding-hgvs" /> <short value="DNA change (c.HGVS)" /> <definition value="Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples." /> <min value="0" /> <max value="1" /> </element> <element id="Observation.component:representative-coding-hgvs.code"> <path value="Observation.component.code" /> <short value="48004-6" /> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="48004-6" /> </coding> </patternCodeableConcept> </element> <element id="Observation.component:representative-coding-hgvs.value[x]"> <path value="Observation.component.value[x]" /> <short value="A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T." /> <min value="1" /> <type> <code value="CodeableConcept" /> </type> <binding> <strength value="required" /> <valueSet value="https://fhir.gsilab.id//ValueSet/hgvs-vs" /> </binding> </element> <element id="Observation.component:genomic-ref-seq"> <path value="Observation.component" /> <sliceName value="genomic-ref-seq" /> <short value="Genomic Reference Sequence" /> <definition value="ID of the genomic reference sequence, which includes transcribed and non transcribed stretches" /> <min value="0" /> <max value="1" /> </element> <element id="Observation.component:genomic-ref-seq.code"> <path value="Observation.component.code" /> <short value="48013-7" /> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="48013-7" /> </coding> </patternCodeableConcept> </element> <element id="Observation.component:genomic-ref-seq.value[x]"> <path value="Observation.component.value[x]" /> <short value="Versioned genomic reference sequence identifier" /> <min value="1" /> <type> <code value="CodeableConcept" /> </type> </element> <element id="Observation.component:representative-protein-ref-seq"> <path value="Observation.component" /> <sliceName value="representative-protein-ref-seq" /> <short value="Protein Reference Sequence" /> <definition value="ID of the protein reference sequence, which includes transcribed and non transcribed stretches. 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Often >400, sometimes as few as 2-4." /> <comment value="See [here](sequencing.html#variant-assessment) for usage guidance." /> <min value="0" /> <max value="1" /> </element> <element id="Observation.component:allelic-read-depth.code"> <path value="Observation.component.code" /> <short value="82121-5" /> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="82121-5" /> </coding> </patternCodeableConcept> </element> <element id="Observation.component:allelic-read-depth.value[x]"> <path value="Observation.component.value[x]" /> <short value="Unfiltered count of supporting reads" /> <type> <code value="Quantity" /> </type> </element> </differential> </StructureDefinition>