FHIR Cross-Version Extensions package for FHIR R4 from FHIR R5
0.0.1-snapshot-2 - informative International flag

FHIR Cross-Version Extensions package for FHIR R4 from FHIR R5 - Version 0.0.1-snapshot-2. See the Directory of published versions

: Genomic Study Data Format - JSON Representation

Page standards status: Informative Maturity Level: 1

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{
  "resourceType" : "CodeSystem",
  "id" : "genomicstudy-dataformat",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n            <p>This code system \n              <code>http://hl7.org/fhir/genomicstudy-dataformat</code> defines the following codes:\n            </p>\n            <table class=\"codes\">\n              <tr>\n                <td style=\"white-space:nowrap\">\n                  <b>Code</b>\n                </td>\n                <td>\n                  <b>Display</b>\n                </td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">bam\n                  <a name=\"genomicstudy-dataformat-bam\"> </a>\n                </td>\n                <td>BAM</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">bed\n                  <a name=\"genomicstudy-dataformat-bed\"> </a>\n                </td>\n                <td>BED</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">bedpe\n                  <a name=\"genomicstudy-dataformat-bedpe\"> </a>\n                </td>\n                <td>BEDPE</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">bedgraph\n                  <a name=\"genomicstudy-dataformat-bedgraph\"> </a>\n                </td>\n                <td>BedGraph</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">bigbed\n                  <a name=\"genomicstudy-dataformat-bigbed\"> </a>\n                </td>\n                <td>bigBed</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">bigWig\n                  <a name=\"genomicstudy-dataformat-bigWig\"> </a>\n                </td>\n                <td>bigWig</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">birdsuite-files\n                  <a name=\"genomicstudy-dataformat-birdsuite-files\"> </a>\n                </td>\n                <td>Birdsuite-Files</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">broadpeak\n                  <a name=\"genomicstudy-dataformat-broadpeak\"> </a>\n                </td>\n                <td>broadPeak</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">cbs\n                  <a name=\"genomicstudy-dataformat-cbs\"> </a>\n                </td>\n                <td>CBS</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">chemical-reactivity-probing-profiles\n                  <a name=\"genomicstudy-dataformat-chemical-reactivity-probing-profiles\"> </a>\n                </td>\n                <td>Chemical-Reactivity-Probing-Profiles</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">chrom-sizes\n                  <a name=\"genomicstudy-dataformat-chrom-sizes\"> </a>\n                </td>\n                <td>chrom-sizes</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">cn\n                  <a name=\"genomicstudy-dataformat-cn\"> </a>\n                </td>\n                <td>CN</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">custom-file-formats\n                  <a name=\"genomicstudy-dataformat-custom-file-formats\"> </a>\n                </td>\n                <td>Custom-File-Formats</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">cytoband\n                  <a name=\"genomicstudy-dataformat-cytoband\"> </a>\n                </td>\n                <td>Cytoband</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">fasta\n                  <a name=\"genomicstudy-dataformat-fasta\"> </a>\n                </td>\n                <td>FASTA</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">gct\n                  <a name=\"genomicstudy-dataformat-gct\"> </a>\n                </td>\n                <td>GCT</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">cram\n                  <a name=\"genomicstudy-dataformat-cram\"> </a>\n                </td>\n                <td>CRAM</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">genepred\n                  <a name=\"genomicstudy-dataformat-genepred\"> </a>\n                </td>\n                <td>genePred</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">gff-gtf\n                  <a name=\"genomicstudy-dataformat-gff-gtf\"> </a>\n                </td>\n                <td>GFF/GTF</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">gistic\n                  <a name=\"genomicstudy-dataformat-gistic\"> </a>\n                </td>\n                <td>GISTIC</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">goby\n                  <a name=\"genomicstudy-dataformat-goby\"> </a>\n                </td>\n                <td>Goby</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">gwas\n                  <a name=\"genomicstudy-dataformat-gwas\"> </a>\n                </td>\n                <td>GWAS</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">igv\n                  <a name=\"genomicstudy-dataformat-igv\"> </a>\n                </td>\n                <td>IGV</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">loh\n                  <a name=\"genomicstudy-dataformat-loh\"> </a>\n                </td>\n                <td>LOH</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">maf-multiple-alignment-format\n                  <a name=\"genomicstudy-dataformat-maf-multiple-alignment-format\"> </a>\n                </td>\n                <td>MAF-Multiple Alignment Format</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">maf-mutation-annotation-format\n                  <a name=\"genomicstudy-dataformat-maf-mutation-annotation-format\"> </a>\n                </td>\n                <td>MAF-Mutation-Annotation-Format</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">merged-bam-file\n                  <a name=\"genomicstudy-dataformat-merged-bam-file\"> </a>\n                </td>\n                <td>Merged BAM File</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">mut\n                  <a name=\"genomicstudy-dataformat-mut\"> </a>\n                </td>\n                <td>MUT</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">narrowpeak\n                  <a name=\"genomicstudy-dataformat-narrowpeak\"> </a>\n                </td>\n                <td>narrowPeak</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">psl\n                  <a name=\"genomicstudy-dataformat-psl\"> </a>\n                </td>\n                <td>PSL</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">res\n                  <a name=\"genomicstudy-dataformat-res\"> </a>\n                </td>\n                <td>RES</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">rna-secondary-structure-formats\n                  <a name=\"genomicstudy-dataformat-rna-secondary-structure-formats\"> </a>\n                </td>\n                <td>RNA-Secondary-Structure-Formats</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">sam\n                  <a name=\"genomicstudy-dataformat-sam\"> </a>\n                </td>\n                <td>SAM</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">sample-info-attributes-file\n                  <a name=\"genomicstudy-dataformat-sample-info-attributes-file\"> </a>\n                </td>\n                <td>Sample-Info-Attributes-file</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">seg\n                  <a name=\"genomicstudy-dataformat-seg\"> </a>\n                </td>\n                <td>SEG</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">tdf\n                  <a name=\"genomicstudy-dataformat-tdf\"> </a>\n                </td>\n                <td>TDF</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">track-line\n                  <a name=\"genomicstudy-dataformat-track-line\"> </a>\n                </td>\n                <td>Track Line</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">type-line\n                  <a name=\"genomicstudy-dataformat-type-line\"> </a>\n                </td>\n                <td>Type Line</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">vcf\n                  <a name=\"genomicstudy-dataformat-vcf\"> </a>\n                </td>\n                <td>VCF</td>\n              </tr>\n              <tr>\n                <td style=\"white-space:nowrap\">wig\n                  <a name=\"genomicstudy-dataformat-wig\"> </a>\n                </td>\n                <td>WIG</td>\n              </tr>\n            </table>\n          </div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "informative"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger" : 1
    },
    {
      "extension" : [
        {
          "url" : "packageId",
          "valueId" : "hl7.fhir.uv.xver-r5.r4"
        },
        {
          "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"
    }
  ]
}