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 - XML Representation

Page standards status: Informative Maturity Level: 1

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="genomicstudy-dataformat"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml">
            <p>This code system 
              <code>http://hl7.org/fhir/genomicstudy-dataformat</code> defines the following codes:
            </p>
            <table class="codes">
              <tr>
                <td style="white-space:nowrap">
                  <b>Code</b>
                </td>
                <td>
                  <b>Display</b>
                </td>
              </tr>
              <tr>
                <td style="white-space:nowrap">bam
                  <a name="genomicstudy-dataformat-bam"> </a>
                </td>
                <td>BAM</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">bed
                  <a name="genomicstudy-dataformat-bed"> </a>
                </td>
                <td>BED</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">bedpe
                  <a name="genomicstudy-dataformat-bedpe"> </a>
                </td>
                <td>BEDPE</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">bedgraph
                  <a name="genomicstudy-dataformat-bedgraph"> </a>
                </td>
                <td>BedGraph</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">bigbed
                  <a name="genomicstudy-dataformat-bigbed"> </a>
                </td>
                <td>bigBed</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">bigWig
                  <a name="genomicstudy-dataformat-bigWig"> </a>
                </td>
                <td>bigWig</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">birdsuite-files
                  <a name="genomicstudy-dataformat-birdsuite-files"> </a>
                </td>
                <td>Birdsuite-Files</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">broadpeak
                  <a name="genomicstudy-dataformat-broadpeak"> </a>
                </td>
                <td>broadPeak</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">cbs
                  <a name="genomicstudy-dataformat-cbs"> </a>
                </td>
                <td>CBS</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">chemical-reactivity-probing-profiles
                  <a name="genomicstudy-dataformat-chemical-reactivity-probing-profiles"> </a>
                </td>
                <td>Chemical-Reactivity-Probing-Profiles</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">chrom-sizes
                  <a name="genomicstudy-dataformat-chrom-sizes"> </a>
                </td>
                <td>chrom-sizes</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">cn
                  <a name="genomicstudy-dataformat-cn"> </a>
                </td>
                <td>CN</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">custom-file-formats
                  <a name="genomicstudy-dataformat-custom-file-formats"> </a>
                </td>
                <td>Custom-File-Formats</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">cytoband
                  <a name="genomicstudy-dataformat-cytoband"> </a>
                </td>
                <td>Cytoband</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">fasta
                  <a name="genomicstudy-dataformat-fasta"> </a>
                </td>
                <td>FASTA</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">gct
                  <a name="genomicstudy-dataformat-gct"> </a>
                </td>
                <td>GCT</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">cram
                  <a name="genomicstudy-dataformat-cram"> </a>
                </td>
                <td>CRAM</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">genepred
                  <a name="genomicstudy-dataformat-genepred"> </a>
                </td>
                <td>genePred</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">gff-gtf
                  <a name="genomicstudy-dataformat-gff-gtf"> </a>
                </td>
                <td>GFF/GTF</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">gistic
                  <a name="genomicstudy-dataformat-gistic"> </a>
                </td>
                <td>GISTIC</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">goby
                  <a name="genomicstudy-dataformat-goby"> </a>
                </td>
                <td>Goby</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">gwas
                  <a name="genomicstudy-dataformat-gwas"> </a>
                </td>
                <td>GWAS</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">igv
                  <a name="genomicstudy-dataformat-igv"> </a>
                </td>
                <td>IGV</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">loh
                  <a name="genomicstudy-dataformat-loh"> </a>
                </td>
                <td>LOH</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">maf-multiple-alignment-format
                  <a name="genomicstudy-dataformat-maf-multiple-alignment-format"> </a>
                </td>
                <td>MAF-Multiple Alignment Format</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">maf-mutation-annotation-format
                  <a name="genomicstudy-dataformat-maf-mutation-annotation-format"> </a>
                </td>
                <td>MAF-Mutation-Annotation-Format</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">merged-bam-file
                  <a name="genomicstudy-dataformat-merged-bam-file"> </a>
                </td>
                <td>Merged BAM File</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">mut
                  <a name="genomicstudy-dataformat-mut"> </a>
                </td>
                <td>MUT</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">narrowpeak
                  <a name="genomicstudy-dataformat-narrowpeak"> </a>
                </td>
                <td>narrowPeak</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">psl
                  <a name="genomicstudy-dataformat-psl"> </a>
                </td>
                <td>PSL</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">res
                  <a name="genomicstudy-dataformat-res"> </a>
                </td>
                <td>RES</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">rna-secondary-structure-formats
                  <a name="genomicstudy-dataformat-rna-secondary-structure-formats"> </a>
                </td>
                <td>RNA-Secondary-Structure-Formats</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">sam
                  <a name="genomicstudy-dataformat-sam"> </a>
                </td>
                <td>SAM</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">sample-info-attributes-file
                  <a name="genomicstudy-dataformat-sample-info-attributes-file"> </a>
                </td>
                <td>Sample-Info-Attributes-file</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">seg
                  <a name="genomicstudy-dataformat-seg"> </a>
                </td>
                <td>SEG</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">tdf
                  <a name="genomicstudy-dataformat-tdf"> </a>
                </td>
                <td>TDF</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">track-line
                  <a name="genomicstudy-dataformat-track-line"> </a>
                </td>
                <td>Track Line</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">type-line
                  <a name="genomicstudy-dataformat-type-line"> </a>
                </td>
                <td>Type Line</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">vcf
                  <a name="genomicstudy-dataformat-vcf"> </a>
                </td>
                <td>VCF</td>
              </tr>
              <tr>
                <td style="white-space:nowrap">wig
                  <a name="genomicstudy-dataformat-wig"> </a>
                </td>
                <td>WIG</td>
              </tr>
            </table>
          </div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
    <valueCode value="informative"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
    <valueInteger value="1"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/package-source">
    <extension url="packageId">
      <valueId value="hl7.fhir.uv.xver-r5.r4"/>
    </extension>
    <extension url="version">
      <valueString value="0.0.1-snapshot-2"/>
    </extension>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <url value="http://hl7.org/fhir/genomicstudy-dataformat"/>
  <version value="5.0.0"/>
  <name value="GenomicStudyDataFormat"/>
  <title value="Genomic Study Data Format"/>
  <status value="active"/>
  <experimental value="true"/>
  <date value="2022-08-18T05:49:24+10:00"/>
  <publisher value="Clinical Genomics"/>
  <contact>
    <name value="Clinical Genomics"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
  </contact>
  <description
               value="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 value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <valueSet value="http://hl7.org/fhir/ValueSet/genomicstudy-dataformat"/>
  <content value="complete"/>
  <concept>
    <code value="bam"/>
    <display value="BAM"/>
  </concept>
  <concept>
    <code value="bed"/>
    <display value="BED"/>
  </concept>
  <concept>
    <code value="bedpe"/>
    <display value="BEDPE"/>
  </concept>
  <concept>
    <code value="bedgraph"/>
    <display value="BedGraph"/>
  </concept>
  <concept>
    <code value="bigbed"/>
    <display value="bigBed"/>
  </concept>
  <concept>
    <code value="bigWig"/>
    <display value="bigWig"/>
  </concept>
  <concept>
    <code value="birdsuite-files"/>
    <display value="Birdsuite-Files"/>
  </concept>
  <concept>
    <code value="broadpeak"/>
    <display value="broadPeak"/>
  </concept>
  <concept>
    <code value="cbs"/>
    <display value="CBS"/>
  </concept>
  <concept>
    <code value="chemical-reactivity-probing-profiles"/>
    <display value="Chemical-Reactivity-Probing-Profiles"/>
  </concept>
  <concept>
    <code value="chrom-sizes"/>
    <display value="chrom-sizes"/>
  </concept>
  <concept>
    <code value="cn"/>
    <display value="CN"/>
  </concept>
  <concept>
    <code value="custom-file-formats"/>
    <display value="Custom-File-Formats"/>
  </concept>
  <concept>
    <code value="cytoband"/>
    <display value="Cytoband"/>
  </concept>
  <concept>
    <code value="fasta"/>
    <display value="FASTA"/>
  </concept>
  <concept>
    <code value="gct"/>
    <display value="GCT"/>
  </concept>
  <concept>
    <code value="cram"/>
    <display value="CRAM"/>
  </concept>
  <concept>
    <code value="genepred"/>
    <display value="genePred"/>
  </concept>
  <concept>
    <code value="gff-gtf"/>
    <display value="GFF/GTF"/>
  </concept>
  <concept>
    <code value="gistic"/>
    <display value="GISTIC"/>
  </concept>
  <concept>
    <code value="goby"/>
    <display value="Goby"/>
  </concept>
  <concept>
    <code value="gwas"/>
    <display value="GWAS"/>
  </concept>
  <concept>
    <code value="igv"/>
    <display value="IGV"/>
  </concept>
  <concept>
    <code value="loh"/>
    <display value="LOH"/>
  </concept>
  <concept>
    <code value="maf-multiple-alignment-format"/>
    <display value="MAF-Multiple Alignment Format"/>
  </concept>
  <concept>
    <code value="maf-mutation-annotation-format"/>
    <display value="MAF-Mutation-Annotation-Format"/>
  </concept>
  <concept>
    <code value="merged-bam-file"/>
    <display value="Merged BAM File"/>
  </concept>
  <concept>
    <code value="mut"/>
    <display value="MUT"/>
  </concept>
  <concept>
    <code value="narrowpeak"/>
    <display value="narrowPeak"/>
  </concept>
  <concept>
    <code value="psl"/>
    <display value="PSL"/>
  </concept>
  <concept>
    <code value="res"/>
    <display value="RES"/>
  </concept>
  <concept>
    <code value="rna-secondary-structure-formats"/>
    <display value="RNA-Secondary-Structure-Formats"/>
  </concept>
  <concept>
    <code value="sam"/>
    <display value="SAM"/>
  </concept>
  <concept>
    <code value="sample-info-attributes-file"/>
    <display value="Sample-Info-Attributes-file"/>
  </concept>
  <concept>
    <code value="seg"/>
    <display value="SEG"/>
  </concept>
  <concept>
    <code value="tdf"/>
    <display value="TDF"/>
  </concept>
  <concept>
    <code value="track-line"/>
    <display value="Track Line"/>
  </concept>
  <concept>
    <code value="type-line"/>
    <display value="Type Line"/>
  </concept>
  <concept>
    <code value="vcf"/>
    <display value="VCF"/>
  </concept>
  <concept>
    <code value="wig"/>
    <display value="WIG"/>
  </concept>
</CodeSystem>