This page is part of the FHIR Specification (v5.0.0-ballot: FHIR R5 Ballot Preview). The current version which supercedes this 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 JSON (canonical form + also see JSON Format Specification)
Definition for Code SystemGenomicStudyDataFormat
{ "resourceType" : "CodeSystem", "id" : "genomicstudy-dataformat", "meta" : { "lastUpdated" : "2022-09-07T11:58:29.429+11:00", "profile" : ["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"] }, "text" : { "status" : "generated", "div" : "<div>!-- Snipped for Brevity --></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-ballot", "name" : "GenomicStudyDataFormat", "title" : "GenomicStudyDataFormat", "status" : "draft", "experimental" : false, "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.", "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.