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 - TTL Representation

Page standards status: Informative Maturity Level: 1

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "genomicstudy-dataformat"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir: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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "informative"     ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ] ;
fhir:value [
a fhir:integer ;
fhir:v 1     ]
  ] [
    ( fhir:extension [
fhir:url [ fhir:v "packageId"^^xsd:anyURI ] ;
fhir:value [
a fhir:id ;
fhir:v "hl7.fhir.uv.xver-r5.r4"       ]     ] [
fhir:url [ fhir:v "version"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "0.0.1-snapshot-2"       ]     ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/package-source"^^xsd:anyURI ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "cg"     ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/genomicstudy-dataformat"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "5.0.0"] ; # 
  fhir:name [ fhir:v "GenomicStudyDataFormat"] ; # 
  fhir:title [ fhir:v "Genomic Study Data Format"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v true] ; # 
  fhir:date [ fhir:v "2022-08-18T05:49:24+10:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "Clinical Genomics"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "Clinical Genomics" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "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."] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ]     ] )
  ] ) ; # 
  fhir:caseSensitive [ fhir:v true] ; # 
  fhir:valueSet [
fhir:v "http://hl7.org/fhir/ValueSet/genomicstudy-dataformat"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/ValueSet/genomicstudy-dataformat>
  ] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "bam" ] ;
fhir:display [ fhir:v "BAM" ]
  ] [
fhir:code [ fhir:v "bed" ] ;
fhir:display [ fhir:v "BED" ]
  ] [
fhir:code [ fhir:v "bedpe" ] ;
fhir:display [ fhir:v "BEDPE" ]
  ] [
fhir:code [ fhir:v "bedgraph" ] ;
fhir:display [ fhir:v "BedGraph" ]
  ] [
fhir:code [ fhir:v "bigbed" ] ;
fhir:display [ fhir:v "bigBed" ]
  ] [
fhir:code [ fhir:v "bigWig" ] ;
fhir:display [ fhir:v "bigWig" ]
  ] [
fhir:code [ fhir:v "birdsuite-files" ] ;
fhir:display [ fhir:v "Birdsuite-Files" ]
  ] [
fhir:code [ fhir:v "broadpeak" ] ;
fhir:display [ fhir:v "broadPeak" ]
  ] [
fhir:code [ fhir:v "cbs" ] ;
fhir:display [ fhir:v "CBS" ]
  ] [
fhir:code [ fhir:v "chemical-reactivity-probing-profiles" ] ;
fhir:display [ fhir:v "Chemical-Reactivity-Probing-Profiles" ]
  ] [
fhir:code [ fhir:v "chrom-sizes" ] ;
fhir:display [ fhir:v "chrom-sizes" ]
  ] [
fhir:code [ fhir:v "cn" ] ;
fhir:display [ fhir:v "CN" ]
  ] [
fhir:code [ fhir:v "custom-file-formats" ] ;
fhir:display [ fhir:v "Custom-File-Formats" ]
  ] [
fhir:code [ fhir:v "cytoband" ] ;
fhir:display [ fhir:v "Cytoband" ]
  ] [
fhir:code [ fhir:v "fasta" ] ;
fhir:display [ fhir:v "FASTA" ]
  ] [
fhir:code [ fhir:v "gct" ] ;
fhir:display [ fhir:v "GCT" ]
  ] [
fhir:code [ fhir:v "cram" ] ;
fhir:display [ fhir:v "CRAM" ]
  ] [
fhir:code [ fhir:v "genepred" ] ;
fhir:display [ fhir:v "genePred" ]
  ] [
fhir:code [ fhir:v "gff-gtf" ] ;
fhir:display [ fhir:v "GFF/GTF" ]
  ] [
fhir:code [ fhir:v "gistic" ] ;
fhir:display [ fhir:v "GISTIC" ]
  ] [
fhir:code [ fhir:v "goby" ] ;
fhir:display [ fhir:v "Goby" ]
  ] [
fhir:code [ fhir:v "gwas" ] ;
fhir:display [ fhir:v "GWAS" ]
  ] [
fhir:code [ fhir:v "igv" ] ;
fhir:display [ fhir:v "IGV" ]
  ] [
fhir:code [ fhir:v "loh" ] ;
fhir:display [ fhir:v "LOH" ]
  ] [
fhir:code [ fhir:v "maf-multiple-alignment-format" ] ;
fhir:display [ fhir:v "MAF-Multiple Alignment Format" ]
  ] [
fhir:code [ fhir:v "maf-mutation-annotation-format" ] ;
fhir:display [ fhir:v "MAF-Mutation-Annotation-Format" ]
  ] [
fhir:code [ fhir:v "merged-bam-file" ] ;
fhir:display [ fhir:v "Merged BAM File" ]
  ] [
fhir:code [ fhir:v "mut" ] ;
fhir:display [ fhir:v "MUT" ]
  ] [
fhir:code [ fhir:v "narrowpeak" ] ;
fhir:display [ fhir:v "narrowPeak" ]
  ] [
fhir:code [ fhir:v "psl" ] ;
fhir:display [ fhir:v "PSL" ]
  ] [
fhir:code [ fhir:v "res" ] ;
fhir:display [ fhir:v "RES" ]
  ] [
fhir:code [ fhir:v "rna-secondary-structure-formats" ] ;
fhir:display [ fhir:v "RNA-Secondary-Structure-Formats" ]
  ] [
fhir:code [ fhir:v "sam" ] ;
fhir:display [ fhir:v "SAM" ]
  ] [
fhir:code [ fhir:v "sample-info-attributes-file" ] ;
fhir:display [ fhir:v "Sample-Info-Attributes-file" ]
  ] [
fhir:code [ fhir:v "seg" ] ;
fhir:display [ fhir:v "SEG" ]
  ] [
fhir:code [ fhir:v "tdf" ] ;
fhir:display [ fhir:v "TDF" ]
  ] [
fhir:code [ fhir:v "track-line" ] ;
fhir:display [ fhir:v "Track Line" ]
  ] [
fhir:code [ fhir:v "type-line" ] ;
fhir:display [ fhir:v "Type Line" ]
  ] [
fhir:code [ fhir:v "vcf" ] ;
fhir:display [ fhir:v "VCF" ]
  ] [
fhir:code [ fhir:v "wig" ] ;
fhir:display [ fhir:v "WIG" ]
  ] ) . #