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Packagehl7.fhir.uv.xver-r5.r4b
Resource TypeCodeSystem
IdCodeSystem-genomicstudy-dataformat.json
FHIR VersionR4B
Sourcehttp://hl7.org/fhir/uv/xver-r5.r4b/0.0.1-snapshot-2/CodeSystem-genomicstudy-dataformat.html
URLhttp://hl7.org/fhir/genomicstudy-dataformat
Version5.0.0
Statusactive
Date2022-08-18T05:49:24+10:00
NameGenomicStudyDataFormat
TitleGenomic Study Data Format
Realmuv
Authorityhl7
DescriptionThe 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.
Contentcomplete

Resources that use this resource

ValueSet
R5-genomicstudy-dataformat-for-R4BCross-version VS for R5.GenomicStudyDataFormat for use in FHIR R4B
R5-genomicstudy-dataformat-for-R4Cross-version VS for R5.GenomicStudyDataFormat for use in FHIR R4

Resources that this resource uses

No resources found


Narrative

Note: links and images are rebased to the (stated) source

This code system http://hl7.org/fhir/genomicstudy-dataformat defines the following codes:

Code Display
bam BAM
bed BED
bedpe BEDPE
bedgraph BedGraph
bigbed bigBed
bigWig bigWig
birdsuite-files Birdsuite-Files
broadpeak broadPeak
cbs CBS
chemical-reactivity-probing-profiles Chemical-Reactivity-Probing-Profiles
chrom-sizes chrom-sizes
cn CN
custom-file-formats Custom-File-Formats
cytoband Cytoband
fasta FASTA
gct GCT
cram CRAM
genepred genePred
gff-gtf GFF/GTF
gistic GISTIC
goby Goby
gwas GWAS
igv IGV
loh LOH
maf-multiple-alignment-format MAF-Multiple Alignment Format
maf-mutation-annotation-format MAF-Mutation-Annotation-Format
merged-bam-file Merged BAM File
mut MUT
narrowpeak narrowPeak
psl PSL
res RES
rna-secondary-structure-formats RNA-Secondary-Structure-Formats
sam SAM
sample-info-attributes-file Sample-Info-Attributes-file
seg SEG
tdf TDF
track-line Track Line
type-line Type Line
vcf VCF
wig WIG

Source1

{
  "resourceType": "CodeSystem",
  "id": "genomicstudy-dataformat",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode": "trial-use"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 1
    },
    {
      "extension": [
        {
          "url": "packageId",
          "valueId": "hl7.fhir.uv.xver-r5.r4b"
        },
        {
          "url": "version",
          "valueString": "0.0.1-snapshot-2"
        }
      ],
      "url": "http://hl7.org/fhir/StructureDefinition/package-source"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    }
  ],
  "url": "http://hl7.org/fhir/genomicstudy-dataformat",
  "version": "5.0.0",
  "name": "GenomicStudyDataFormat",
  "title": "Genomic Study Data Format",
  "status": "active",
  "experimental": true,
  "date": "2022-08-18T05:49:24+10:00",
  "publisher": "Clinical Genomics",
  "contact": [
    {
      "name": "Clinical Genomics",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "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.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "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"
    }
  ]
}