This page is part of the FHIR Specification v6.0.0-ballot1: Release 6 Ballot (1st Draft) (see Ballot Notes). The current version is 5.0.0. For a full list of available versions, see the Directory of published versions
Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative |
Raw XML (canonical form + also see XML Format Specification)
Definition for Code SystemGenomicStudyDataFormat
<?xml version="1.0" encoding="UTF-8"?> <CodeSystem xmlns="http://hl7.org/fhir"> <id value="genomicstudy-dataformat"/> <meta> <lastUpdated value="2023-12-18T15:12:07.602+11:00"/> <profile value="http://hl7.org/fhir/StructureDefinition/shareablecodesystem"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"> <p> This case-sensitive code system <code> http://hl7.org/fhir/genomicstudy-dataformat</code> defines the following codes: </p> <table class="codes"> <tr> <td style="white-space:nowrap"> <b> Code</b> </td> <td> <b> Display</b> </td> </tr> <tr> <td style="white-space:nowrap">bam <a name="genomicstudy-dataformat-bam"> </a> </td> <td> BAM</td> </tr> <tr> <td style="white-space:nowrap">bed <a name="genomicstudy-dataformat-bed"> </a> </td> <td> BED</td> </tr> <tr> <td style="white-space:nowrap">bedpe <a name="genomicstudy-dataformat-bedpe"> </a> </td> <td> BEDPE</td> </tr> <tr> <td style="white-space:nowrap">bedgraph <a name="genomicstudy-dataformat-bedgraph"> </a> </td> <td> BedGraph</td> </tr> <tr> <td style="white-space:nowrap">bigbed <a name="genomicstudy-dataformat-bigbed"> </a> </td> <td> bigBed</td> </tr> <tr> <td style="white-space:nowrap">bigWig <a name="genomicstudy-dataformat-bigWig"> </a> </td> <td> bigWig</td> </tr> <tr> <td style="white-space:nowrap">birdsuite-files <a name="genomicstudy-dataformat-birdsuite-files"> </a> </td> <td> Birdsuite-Files</td> </tr> <tr> <td style="white-space:nowrap">broadpeak <a name="genomicstudy-dataformat-broadpeak"> </a> </td> <td> broadPeak</td> </tr> <tr> <td style="white-space:nowrap">cbs <a name="genomicstudy-dataformat-cbs"> </a> </td> <td> CBS</td> </tr> <tr> <td style="white-space:nowrap">chemical-reactivity-probing-profiles <a name="genomicstudy-dataformat-chemical-reactivity-probing-profiles"> </a> </td> <td> Chemical-Reactivity-Probing-Profiles</td> </tr> <tr> <td style="white-space:nowrap">chrom-sizes <a name="genomicstudy-dataformat-chrom-sizes"> </a> </td> <td> chrom-sizes</td> </tr> <tr> <td style="white-space:nowrap">cn <a name="genomicstudy-dataformat-cn"> </a> </td> <td> CN</td> </tr> <tr> <td style="white-space:nowrap">custom-file-formats <a name="genomicstudy-dataformat-custom-file-formats"> </a> </td> <td> Custom-File-Formats</td> </tr> <tr> <td style="white-space:nowrap">cytoband <a name="genomicstudy-dataformat-cytoband"> </a> </td> <td> Cytoband</td> </tr> <tr> <td style="white-space:nowrap">fasta <a name="genomicstudy-dataformat-fasta"> </a> </td> <td> FASTA</td> </tr> <tr> <td style="white-space:nowrap">gct <a name="genomicstudy-dataformat-gct"> </a> </td> <td> GCT</td> </tr> <tr> <td style="white-space:nowrap">cram <a name="genomicstudy-dataformat-cram"> </a> </td> <td> CRAM</td> </tr> <tr> <td style="white-space:nowrap">genepred <a name="genomicstudy-dataformat-genepred"> </a> </td> <td> genePred</td> </tr> <tr> <td style="white-space:nowrap">gff-gtf <a name="genomicstudy-dataformat-gff-gtf"> </a> </td> <td> GFF/GTF</td> </tr> <tr> <td style="white-space:nowrap">gistic <a name="genomicstudy-dataformat-gistic"> </a> </td> <td> GISTIC</td> </tr> <tr> <td style="white-space:nowrap">goby <a name="genomicstudy-dataformat-goby"> </a> </td> <td> Goby</td> </tr> <tr> <td style="white-space:nowrap">gwas <a name="genomicstudy-dataformat-gwas"> </a> </td> <td> GWAS</td> </tr> <tr> <td style="white-space:nowrap">igv <a name="genomicstudy-dataformat-igv"> </a> </td> <td> IGV</td> </tr> <tr> <td style="white-space:nowrap">loh <a name="genomicstudy-dataformat-loh"> </a> </td> <td> LOH</td> </tr> <tr> <td style="white-space:nowrap">maf-multiple-alignment-format <a name="genomicstudy-dataformat-maf-multiple-alignment-format"> </a> </td> <td> MAF-Multiple Alignment Format</td> </tr> <tr> <td style="white-space:nowrap">maf-mutation-annotation-format <a name="genomicstudy-dataformat-maf-mutation-annotation-format"> </a> </td> <td> MAF-Mutation-Annotation-Format</td> </tr> <tr> <td style="white-space:nowrap">merged-bam-file <a name="genomicstudy-dataformat-merged-bam-file"> </a> </td> <td> Merged BAM File</td> </tr> <tr> <td style="white-space:nowrap">mut <a name="genomicstudy-dataformat-mut"> </a> </td> <td> MUT</td> </tr> <tr> <td style="white-space:nowrap">narrowpeak <a name="genomicstudy-dataformat-narrowpeak"> </a> </td> <td> narrowPeak</td> </tr> <tr> <td style="white-space:nowrap">psl <a name="genomicstudy-dataformat-psl"> </a> </td> <td> PSL</td> </tr> <tr> <td style="white-space:nowrap">res <a name="genomicstudy-dataformat-res"> </a> </td> <td> RES</td> </tr> <tr> <td style="white-space:nowrap">rna-secondary-structure-formats <a name="genomicstudy-dataformat-rna-secondary-structure-formats"> </a> </td> <td> RNA-Secondary-Structure-Formats</td> </tr> <tr> <td style="white-space:nowrap">sam <a name="genomicstudy-dataformat-sam"> </a> </td> <td> SAM</td> </tr> <tr> <td style="white-space:nowrap">sample-info-attributes-file <a name="genomicstudy-dataformat-sample-info-attributes-file"> </a> </td> <td> Sample-Info-Attributes-file</td> </tr> <tr> <td style="white-space:nowrap">seg <a name="genomicstudy-dataformat-seg"> </a> </td> <td> SEG</td> </tr> <tr> <td style="white-space:nowrap">tdf <a name="genomicstudy-dataformat-tdf"> </a> </td> <td> TDF</td> </tr> <tr> <td style="white-space:nowrap">track-line <a name="genomicstudy-dataformat-track-line"> </a> </td> <td> Track Line</td> </tr> <tr> <td style="white-space:nowrap">type-line <a name="genomicstudy-dataformat-type-line"> </a> </td> <td> Type Line</td> </tr> <tr> <td style="white-space:nowrap">vcf <a name="genomicstudy-dataformat-vcf"> </a> </td> <td> VCF</td> </tr> <tr> <td style="white-space:nowrap">wig <a name="genomicstudy-dataformat-wig"> </a> </td> <td> WIG</td> </tr> </table> </div> </text> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"> <valueCode value="cg"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"> <valueCode value="trial-use"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"> <valueInteger value="1"/> </extension> <url value="http://hl7.org/fhir/genomicstudy-dataformat"/> <identifier> <system value="urn:ietf:rfc:3986"/> <value value="urn:oid:2.16.840.1.113883.4.642.4.1978"/> </identifier> <version value="6.0.0-ballot1"/> <name value="GenomicStudyDataFormat"/> <title value="Genomic Study Data Format"/> <status value="active"/> <experimental value="true"/> <date value="2022-08-17T14:49:24-05:00"/> <publisher value="HL7 (FHIR Project)"/> <contact> <telecom> <system value="url"/> <value value="http://hl7.org/fhir"/> </telecom> <telecom> <system value="email"/> <value value="fhir@lists.hl7.org"/> </telecom> </contact> <description value="The data format relevant to genomics. These formats and relevant codes were pulled from [Integrative Genomics Viewer Documentation](https://software.broadinstitute.org/software /igv/FileFormats) by Broad Institute."/> <jurisdiction> <coding> <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/> <code value="001"/> <display value="World"/> </coding> </jurisdiction> <caseSensitive value="true"/> <valueSet value="http://hl7.org/fhir/ValueSet/genomicstudy-dataformat"/> <content value="complete"/> <concept> <code value="bam"/> <display value="BAM"/> </concept> <concept> <code value="bed"/> <display value="BED"/> </concept> <concept> <code value="bedpe"/> <display value="BEDPE"/> </concept> <concept> <code value="bedgraph"/> <display value="BedGraph"/> </concept> <concept> <code value="bigbed"/> <display value="bigBed"/> </concept> <concept> <code value="bigWig"/> <display value="bigWig"/> </concept> <concept> <code value="birdsuite-files"/> <display value="Birdsuite-Files"/> </concept> <concept> <code value="broadpeak"/> <display value="broadPeak"/> </concept> <concept> <code value="cbs"/> <display value="CBS"/> </concept> <concept> <code value="chemical-reactivity-probing-profiles"/> <display value="Chemical-Reactivity-Probing-Profiles"/> </concept> <concept> <code value="chrom-sizes"/> <display value="chrom-sizes"/> </concept> <concept> <code value="cn"/> <display value="CN"/> </concept> <concept> <code value="custom-file-formats"/> <display value="Custom-File-Formats"/> </concept> <concept> <code value="cytoband"/> <display value="Cytoband"/> </concept> <concept> <code value="fasta"/> <display value="FASTA"/> </concept> <concept> <code value="gct"/> <display value="GCT"/> </concept> <concept> <code value="cram"/> <display value="CRAM"/> </concept> <concept> <code value="genepred"/> <display value="genePred"/> </concept> <concept> <code value="gff-gtf"/> <display value="GFF/GTF"/> </concept> <concept> <code value="gistic"/> <display value="GISTIC"/> </concept> <concept> <code value="goby"/> <display value="Goby"/> </concept> <concept> <code value="gwas"/> <display value="GWAS"/> </concept> <concept> <code value="igv"/> <display value="IGV"/> </concept> <concept> <code value="loh"/> <display value="LOH"/> </concept> <concept> <code value="maf-multiple-alignment-format"/> <display value="MAF-Multiple Alignment Format"/> </concept> <concept> <code value="maf-mutation-annotation-format"/> <display value="MAF-Mutation-Annotation-Format"/> </concept> <concept> <code value="merged-bam-file"/> <display value="Merged BAM File"/> </concept> <concept> <code value="mut"/> <display value="MUT"/> </concept> <concept> <code value="narrowpeak"/> <display value="narrowPeak"/> </concept> <concept> <code value="psl"/> <display value="PSL"/> </concept> <concept> <code value="res"/> <display value="RES"/> </concept> <concept> <code value="rna-secondary-structure-formats"/> <display value="RNA-Secondary-Structure-Formats"/> </concept> <concept> <code value="sam"/> <display value="SAM"/> </concept> <concept> <code value="sample-info-attributes-file"/> <display value="Sample-Info-Attributes-file"/> </concept> <concept> <code value="seg"/> <display value="SEG"/> </concept> <concept> <code value="tdf"/> <display value="TDF"/> </concept> <concept> <code value="track-line"/> <display value="Track Line"/> </concept> <concept> <code value="type-line"/> <display value="Type Line"/> </concept> <concept> <code value="vcf"/> <display value="VCF"/> </concept> <concept> <code value="wig"/> <display value="WIG"/> </concept> </CodeSystem>
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.
FHIR ®© HL7.org 2011+. FHIR R6 hl7.fhir.core#6.0.0-ballot1 generated on Mon, Dec 18, 2023 15:15+1100.
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