{
"description": "The data formats relevant to Genomic Study analysis.",
"compose": {
"include": [ {
"system": "http://hl7.org/fhir/genomicstudy-dataformat"
} ]
},
"_filename": "ValueSet-genomicstudy-dataformat.json",
"package_name": "hl7.fhir.r6.expansions",
"date": "2022-08-17T15:02:11-05:00",
"meta": {
"profile": [ "http://hl7.org/fhir/StructureDefinition/shareablevalueset" ],
"lastUpdated": "2025-04-01T12:16:37.966+11:00"
},
"publisher": "HL7 (FHIR Project)",
"jurisdiction": [ {
"coding": [ {
"code": "001",
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"display": "World"
} ]
} ],
"name": "GenomicStudyDataFormat",
"type": null,
"experimental": "false",
"resourceType": "ValueSet",
"expansion": {
"total": 40,
"offset": 0,
"contains": [ {
"code": "bam",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "BAM"
}, {
"code": "bed",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "BED"
}, {
"code": "bedpe",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "BEDPE"
}, {
"code": "bedgraph",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "BedGraph"
}, {
"code": "bigbed",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "bigBed"
}, {
"code": "bigWig",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "bigWig"
}, {
"code": "birdsuite-files",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Birdsuite-Files"
}, {
"code": "broadpeak",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "broadPeak"
}, {
"code": "cbs",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "CBS"
}, {
"code": "chemical-reactivity-probing-profiles",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Chemical-Reactivity-Probing-Profiles"
}, {
"code": "chrom-sizes",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "chrom-sizes"
}, {
"code": "cn",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "CN"
}, {
"code": "custom-file-formats",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Custom-File-Formats"
}, {
"code": "cytoband",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Cytoband"
}, {
"code": "fasta",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "FASTA"
}, {
"code": "gct",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "GCT"
}, {
"code": "cram",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "CRAM"
}, {
"code": "genepred",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "genePred"
}, {
"code": "gff-gtf",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "GFF/GTF"
}, {
"code": "gistic",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "GISTIC"
}, {
"code": "goby",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Goby"
}, {
"code": "gwas",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "GWAS"
}, {
"code": "igv",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "IGV"
}, {
"code": "loh",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "LOH"
}, {
"code": "maf-multiple-alignment-format",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "MAF-Multiple Alignment Format"
}, {
"code": "maf-mutation-annotation-format",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "MAF-Mutation-Annotation-Format"
}, {
"code": "merged-bam-file",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Merged BAM File"
}, {
"code": "mut",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "MUT"
}, {
"code": "narrowpeak",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "narrowPeak"
}, {
"code": "psl",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "PSL"
}, {
"code": "res",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "RES"
}, {
"code": "rna-secondary-structure-formats",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "RNA-Secondary-Structure-Formats"
}, {
"code": "sam",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "SAM"
}, {
"code": "sample-info-attributes-file",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Sample-Info-Attributes-file"
}, {
"code": "seg",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "SEG"
}, {
"code": "tdf",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "TDF"
}, {
"code": "track-line",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Track Line"
}, {
"code": "type-line",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "Type Line"
}, {
"code": "vcf",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "VCF"
}, {
"code": "wig",
"system": "http://hl7.org/fhir/genomicstudy-dataformat",
"display": "WIG"
} ],
"parameter": [ {
"name": "excludeNested",
"valueBoolean": true
}, {
"name": "includeDesignations",
"valueBoolean": true
}, {
"name": "count",
"valueInteger": 1000
}, {
"name": "offset",
"valueInteger": 0
}, {
"name": "warning-experimental",
"valueUri": "http://hl7.org/fhir/genomicstudy-dataformat|6.0.0-ballot3"
}, {
"name": "used-codesystem",
"valueUri": "http://hl7.org/fhir/genomicstudy-dataformat|6.0.0-ballot3"
} ],
"timestamp": "2025-04-01T12:21:09+11:00",
"identifier": "urn:uuid:fc67fa0b-880e-40c7-bbf8-a481cc70e6aa"
},
"title": "Genomic Study Data Format",
"package_version": "6.0.0-ballot3",
"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": 1
} ],
"status": "draft",
"id": "e1f3d580-3b62-4d4c-9aff-60d8e9abc511",
"kind": null,
"url": "http://hl7.org/fhir/ValueSet/genomicstudy-dataformat",
"identifier": [ {
"value": "urn:oid:2.16.840.1.113883.4.642.3.3084",
"system": "urn:ietf:rfc:3986"
} ],
"immutable": false,
"version": "6.0.0-ballot3",
"contact": [ {
"telecom": [ {
"value": "http://hl7.org/fhir",
"system": "url"
}, {
"value": "fhir@lists.hl7.org",
"system": "email"
} ]
} ]
}