This is Snapshot #3 for FHIR R5, released to support Connectathon 32. 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 JSON (canonical form + also see JSON Format Specification)
Definition for Code SystemGenomicStudyDataFormat
{ "resourceType" : "CodeSystem", "id" : "genomicstudy-dataformat", "meta" : { "lastUpdated" : "2022-12-14T07:12:54.019+11:00", "profile" : ["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"] }, "text" : { "status" : "generated", "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This 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>" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode" : "cg" }, { "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status", "valueCode" : "trial-use" }, { "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm", "valueInteger" : 0 }], "url" : "http://hl7.org/fhir/genomicstudy-dataformat", "identifier" : [{ "system" : "urn:ietf:rfc:3986", "value" : "urn:oid:2.16.840.1.113883.4.642.4.1978" }], "version" : "5.0.0-snapshot3", "name" : "GenomicStudyDataFormat", "title" : "GenomicStudyDataFormat", "status" : "active", "experimental" : true, "date" : "2022-08-17T14:49:24-05:00", "publisher" : "HL7 (FHIR Project)", "contact" : [{ "telecom" : [{ "system" : "url", "value" : "http://hl7.org/fhir" }, { "system" : "email", "value" : "fhir@lists.hl7.org" }] }], "description" : "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" : "http://unstats.un.org/unsd/methods/m49/m49.htm", "code" : "001", "display" : "World" }] }], "caseSensitive" : true, "valueSet" : "http://hl7.org/fhir/ValueSet/genomicstudy-dataformat", "content" : "complete", "concept" : [{ "code" : "bam", "display" : "BAM" }, { "code" : "bed", "display" : "BED" }, { "code" : "bedpe", "display" : "BEDPE" }, { "code" : "bedgraph", "display" : "BedGraph" }, { "code" : "bigbed", "display" : "bigBed" }, { "code" : "bigWig", "display" : "bigWig" }, { "code" : "birdsuite-files", "display" : "Birdsuite-Files" }, { "code" : "broadpeak", "display" : "broadPeak" }, { "code" : "cbs", "display" : "CBS" }, { "code" : "chemical-reactivity-probing-profiles", "display" : "Chemical-Reactivity-Probing-Profiles" }, { "code" : "chrom-sizes", "display" : "chrom-sizes" }, { "code" : "cn", "display" : "CN" }, { "code" : "custom-file-formats", "display" : "Custom-File-Formats" }, { "code" : "cytoband", "display" : "Cytoband" }, { "code" : "fasta", "display" : "FASTA" }, { "code" : "gct", "display" : "GCT" }, { "code" : "cram", "display" : "CRAM" }, { "code" : "genepred", "display" : "genePred" }, { "code" : "gff-gtf", "display" : "GFF/GTF" }, { "code" : "gistic", "display" : "GISTIC" }, { "code" : "goby", "display" : "Goby" }, { "code" : "gwas", "display" : "GWAS" }, { "code" : "igv", "display" : "IGV" }, { "code" : "loh", "display" : "LOH" }, { "code" : "maf-multiple-alignment-format", "display" : "MAF-Multiple Alignment Format" }, { "code" : "maf-mutation-annotation-format", "display" : "MAF-Mutation-Annotation-Format" }, { "code" : "merged-bam-file", "display" : "Merged BAM File" }, { "code" : "mut", "display" : "MUT" }, { "code" : "narrowpeak", "display" : "narrowPeak" }, { "code" : "psl", "display" : "PSL" }, { "code" : "res", "display" : "RES" }, { "code" : "rna-secondary-structure-formats", "display" : "RNA-Secondary-Structure-Formats" }, { "code" : "sam", "display" : "SAM" }, { "code" : "sample-info-attributes-file", "display" : "Sample-Info-Attributes-file" }, { "code" : "seg", "display" : "SEG" }, { "code" : "tdf", "display" : "TDF" }, { "code" : "track-line", "display" : "Track Line" }, { "code" : "type-line", "display" : "Type Line" }, { "code" : "vcf", "display" : "VCF" }, { "code" : "wig", "display" : "WIG" }] }
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 R5 Ballot hl7.fhir.core#5.0.0-snapshot3 generated on Wed, Dec 14, 2022 07:13+1100.
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