<status value="draft" /> <date value="2024-06-18" /> <publisher value="openEHR" /> <contact> <telecom> <system value="url" /> <value value="http://www.veratech.es" /> </telecom> </contact> <description value="A sequence file that is used as a reference to describe genetic variants that are present in an analysed sequence." /> <purpose value="To record details about the reference sequence used to describe variants." /> <fhirVersion value="4.0.0" /> <mapping> <identity value="openEHR" /> <uri value="http://openehr.org" /> <name value="openEHR Mapping" /> </mapping> <mapping> <identity value="openEHR-natural" /> <uri value="http://openehr.org" /> <name value="openEHR natural path" /> </mapping> <kind value="logical" /> <abstract value="false" /> <type value="StructureDefinition" /> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Element" /> <snapshot> <element id="Reference_sequence"> <path value="Reference_sequence" /> <short value="Reference sequence" /> <definition value="A sequence file that is used as a reference to describe genetic variants that are present in an analysed sequence." /> <min value="1" /> <max value="*" /> <base> <path value="Reference_sequence" /> <min value="1" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="true" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Reference_sequence.Reference_genome_assembly"> <path value="Reference_sequence.Reference_genome_assembly" /> <short value="Reference genome assembly" /> <definition value="The reference genome assembled as a representative model of the human genome." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Reference_genome_assembly" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Reference_sequence.Reference_genome_assembly.value"> <path value="Reference_sequence.Reference_genome_assembly.value" /> <short value="Reference genome assembly" /> <definition value="The reference genome assembled as a representative model of the human genome." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Reference_genome_assembly.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Reference_sequence.Source_name"> <path value="Reference_sequence.Source_name" /> <short value="Source name" /> <definition value="The name of the data source containing the reference sequence." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Source_name" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Reference_sequence.Source_name.value"> <path value="Reference_sequence.Source_name.value" /> <short value="Source name" /> <definition value="The name of the data source containing the reference sequence." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Source_name.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Reference_sequence.Accession_number"> <path value="Reference_sequence.Accession_number" /> <short value="Accession number" /> <definition value="A unique identifier to refer to a sequence record in a sequence repository." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Accession_number" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Reference_sequence.Accession_number.value"> <path value="Reference_sequence.Accession_number.value" /> <short value="Accession number" /> <definition value="A unique identifier to refer to a sequence record in a sequence repository." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Accession_number.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Reference_sequence.Version_number"> <path value="Reference_sequence.Version_number" /> <short value="Version number" /> <definition value="The version number of the data record of the reference sequence." /> <min value="0" /> <max value="*" /> <base> <path value="Reference_sequence.Version_number" /> <min value="0" /> <max value="*" /> </base> </element> <element id="Reference_sequence.Version_number.value"> <path value="Reference_sequence.Version_number.value" /> <short value="Version number" /> <definition value="The version number of the data record of the reference sequence." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Version_number.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Reference_sequence.URL"> <path value="Reference_sequence.URL" /> <short value="URL" /> <definition value="Network address." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.URL" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Reference_sequence.URL.value"> <path value="Reference_sequence.URL.value" /> <short value="URL" /> <definition value="Network address." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.URL.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="string" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Reference_sequence.Chromosome_label"> <path value="Reference_sequence.Chromosome_label" /> <short value="Chromosome label" /> <definition value="Chromosome identifier." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Chromosome_label" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Reference_sequence.Chromosome_label.value_DV_CODED_TEXT"> <path value="Reference_sequence.Chromosome_label.value_DV_CODED_TEXT" /> <short value="Chromosome label" /> <definition value="Chromosome identifier." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Chromosome_label.value_DV_CODED_TEXT" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Reference_sequence.Chromosome_label.value_DV_TEXT"> <path value="Reference_sequence.Chromosome_label.value_DV_TEXT" /> <short value="Chromosome label" /> <definition value="Chromosome identifier." /> <min value="0" /> <max value="1" /> <base> <path value="Reference_sequence.Chromosome_label.value_DV_TEXT" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> </snapshot> </StructureDefinition>