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Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative |
Raw Turtle (+ also see Turtle/RDF Format Specification)
Definition for Code SystemGenomicStudyDataFormat
@prefix fhir: <http://hl7.org/fhir/> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . # - resource ------------------------------------------------------------------- [] a fhir:CodeSystem ; fhir:id [ fhir:v "genomicstudy-dataformat"] ; fhir:meta [ fhir:lastUpdated [ fhir:v "2024-11-16T05:37:49.495+11:00" ] ; fhir:profile ( [ fhir:v "http://hl7.org/fhir/StructureDefinition/shareablecodesystem" ] ) ] ; fhir:text [ fhir:status [ fhir:v "generated" ] ] ; fhir:extension ( [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ; fhir:value [ fhir:v "cg" ] ] [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ; fhir:value [ fhir:v "trial-use" ] ] [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ] ; fhir:value [ fhir:v "1" ] ] ) ; fhir:url [ fhir:v "http://hl7.org/fhir/genomicstudy-dataformat"], [ fhir:v "http://hl7.org/fhir/genomicstudy-dataformat"] ; fhir:identifier ( [ fhir:system [ fhir:v "urn:ietf:rfc:3986" ] ; fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1978" ] ] [ fhir:system [ fhir:v "urn:ietf:rfc:3986" ] ; fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1978" ] ] ) ; fhir:version [ fhir:v "6.0.0-ballot2"], [ fhir:v "6.0.0-ballot2"] ; fhir:name [ fhir:v "GenomicStudyDataFormat"], [ fhir:v "GenomicStudyDataFormat"] ; fhir:title [ fhir:v "Genomic Study Data Format"], [ fhir:v "Genomic Study Data Format"] ; fhir:status [ fhir:v "active"], [ fhir:v "active"] ; fhir:experimental [ fhir:v "true"], [ fhir:v "true"] ; fhir:date [ fhir:v "2022-08-17T14:49:24-05:00"], [ fhir:v "2022-08-17T14:49:24-05:00"] ; fhir:publisher [ fhir:v "HL7 (FHIR Project)"], [ fhir:v "HL7 (FHIR Project)"] ; fhir:contact ( [ fhir:telecom ( [ fhir:system [ fhir:v "url" ] ; fhir:value [ fhir:v "http://hl7.org/fhir" ] ] [ fhir:system [ fhir:v "email" ] ; fhir:value [ fhir:v "fhir@lists.hl7.org" ] ] ) ] [ fhir:telecom ( [ fhir:system [ fhir:v "url" ] ; fhir:value [ fhir:v "http://hl7.org/fhir" ] ] [ fhir:system [ fhir:v "email" ] ; fhir:value [ fhir:v "fhir@lists.hl7.org" ] ] ) ] ) ; 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: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" ] ; fhir:code [ fhir:v "001" ] ; fhir:display [ fhir:v "World" ] ] ) ] [ fhir:coding ( [ fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ; 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"] ; 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" ] ] ) . # -------------------------------------------------------------------------------------
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.
FHIR ®© HL7.org 2011+. FHIR R6 hl7.fhir.core#6.0.0-ballot2 generated on Fri, Nov 15, 2024 19:01+0000.
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