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4.4.1.521 ValueSet http://hl7.org/fhir/ValueSet/genomicstudy-dataformat

Clinical Genomics icon Work Group  Maturity Level: 1 Trial Use Use Context: Country: World
Official URL: http://hl7.org/fhir/ValueSet/genomicstudy-dataformat Version: 6.0.0-ballot3
draft as of 2022-08-17 Computable Name: GenomicStudyDataFormat
Flags: OID: 2.16.840.1.113883.4.642.3.3084

This value set is used in the following places:

4.4.1.521.1 Definition

The data formats relevant to Genomic Study analysis.

4.4.1.521.2 Content Logical Definition

Generated Narrative: ValueSet genomicstudy-dataformat

Last updated: 2025-10-14T11:00:46.442+11:00

Profile: Shareable ValueSet

 

4.4.1.521.3 Expansion

This expansion generated 14 Oct 2025

ValueSet

Expansion performed internally based on codesystem Genomic Study Data Format v6.0.0-ballot3 (CodeSystem)

This value set contains 40 concepts

SystemCodeDisplayDefinition
http://hl7.org/fhir/genomicstudy-dataformat   bam BAM
http://hl7.org/fhir/genomicstudy-dataformat   bed BED
http://hl7.org/fhir/genomicstudy-dataformat   bedpe BEDPE
http://hl7.org/fhir/genomicstudy-dataformat   bedgraph BedGraph
http://hl7.org/fhir/genomicstudy-dataformat   bigbed bigBed
http://hl7.org/fhir/genomicstudy-dataformat   bigWig bigWig
http://hl7.org/fhir/genomicstudy-dataformat   birdsuite-files Birdsuite-Files
http://hl7.org/fhir/genomicstudy-dataformat   broadpeak broadPeak
http://hl7.org/fhir/genomicstudy-dataformat   cbs CBS
http://hl7.org/fhir/genomicstudy-dataformat   chemical-reactivity-probing-profiles Chemical-Reactivity-Probing-Profiles
http://hl7.org/fhir/genomicstudy-dataformat   chrom-sizes chrom-sizes
http://hl7.org/fhir/genomicstudy-dataformat   cn CN
http://hl7.org/fhir/genomicstudy-dataformat   custom-file-formats Custom-File-Formats
http://hl7.org/fhir/genomicstudy-dataformat   cytoband Cytoband
http://hl7.org/fhir/genomicstudy-dataformat   fasta FASTA
http://hl7.org/fhir/genomicstudy-dataformat   gct GCT
http://hl7.org/fhir/genomicstudy-dataformat   cram CRAM
http://hl7.org/fhir/genomicstudy-dataformat   genepred genePred
http://hl7.org/fhir/genomicstudy-dataformat   gff-gtf GFF/GTF
http://hl7.org/fhir/genomicstudy-dataformat   gistic GISTIC
http://hl7.org/fhir/genomicstudy-dataformat   goby Goby
http://hl7.org/fhir/genomicstudy-dataformat   gwas GWAS
http://hl7.org/fhir/genomicstudy-dataformat   igv IGV
http://hl7.org/fhir/genomicstudy-dataformat   loh LOH
http://hl7.org/fhir/genomicstudy-dataformat   maf-multiple-alignment-format MAF-Multiple Alignment Format
http://hl7.org/fhir/genomicstudy-dataformat   maf-mutation-annotation-format MAF-Mutation-Annotation-Format
http://hl7.org/fhir/genomicstudy-dataformat   merged-bam-file Merged BAM File
http://hl7.org/fhir/genomicstudy-dataformat   mut MUT
http://hl7.org/fhir/genomicstudy-dataformat   narrowpeak narrowPeak
http://hl7.org/fhir/genomicstudy-dataformat   psl PSL
http://hl7.org/fhir/genomicstudy-dataformat   res RES
http://hl7.org/fhir/genomicstudy-dataformat   rna-secondary-structure-formats RNA-Secondary-Structure-Formats
http://hl7.org/fhir/genomicstudy-dataformat   sam SAM
http://hl7.org/fhir/genomicstudy-dataformat   sample-info-attributes-file Sample-Info-Attributes-file
http://hl7.org/fhir/genomicstudy-dataformat   seg SEG
http://hl7.org/fhir/genomicstudy-dataformat   tdf TDF
http://hl7.org/fhir/genomicstudy-dataformat   track-line Track Line
http://hl7.org/fhir/genomicstudy-dataformat   type-line Type Line
http://hl7.org/fhir/genomicstudy-dataformat   vcf VCF
http://hl7.org/fhir/genomicstudy-dataformat   wig WIG

 

See the full registry of value sets defined as part of FHIR.

Explanation of the columns that may appear on this page:

Lvl A few code lists that FHIR defines are hierarchical - each code is assigned a level. For value sets, levels are mostly used to organize codes for user convenience, but may follow code system hierarchy - see Code System for further information
Source The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance). If the code is in italics, this indicates that the code is not selectable ('Abstract')
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code