http://hl7.org/fhir/genomicstudy-dataformat|5.0.0

name
GenomicStudyDataFormat
package
hl7.fhir.r5.core@5.0.0
content
complete
experimental
true
status
active
date
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"
    } ]
  } ]
}