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.