http://hl7.org/fhir/genomicstudy-dataformat|5.0.0
name
GenomicStudyDataFormat
GenomicStudyDataFormat
package
hl7.fhir.r5.core@5.0.0
hl7.fhir.r5.core@5.0.0
content
complete
complete
experimental
true
true
status
active
active
date
2022-08-17 19:49:24.0
2022-08-17 19:49:24.0
Genomic Study Data Format
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.
{
"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.",
"compose" : null,
"package" : "hl7.fhir.r5.core@5.0.0",
"date" : "2022-08-17T19:49:24Z",
"meta" : {
"profile" : [ "http://hl7.org/fhir/StructureDefinition/shareablecodesystem" ],
"lastUpdated" : "2023-03-26T15:21:02.749+11:00"
},
"publisher" : "HL7 (FHIR Project)",
"jurisdiction" : [ {
"coding" : [ {
"code" : "001",
"system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
"display" : "World"
} ]
} ],
"content" : "complete",
"name" : "GenomicStudyDataFormat",
"experimental" : true,
"resourceType" : "CodeSystem",
"title" : "Genomic Study Data Format",
"supliment" : null,
"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" : "active",
"id" : "b405c07c-513a-533e-88fb-41d88db267f5",
"valueSet" : "http://hl7.org/fhir/ValueSet/genomicstudy-dataformat",
"url" : "http://hl7.org/fhir/genomicstudy-dataformat",
"identifier" : [ {
"value" : "urn:oid:2.16.840.1.113883.4.642.4.1978",
"system" : "urn:ietf:rfc:3986"
} ],
"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"
} ],
"caseSensitive" : true,
"version" : "5.0.0",
"contact" : [ {
"telecom" : [ {
"value" : "http://hl7.org/fhir",
"system" : "url"
}, {
"value" : "fhir@lists.hl7.org",
"system" : "email"
} ]
} ]
}