GenomicStudyDataFormat

Genomic Study Data Format

activeExtensions for Using Data Elements from FHIR R5 in FHIR R40.1.0complete40 concepts

The data format relevant to genomics. These formats and relevant codes were pulled from Integrative Genomics Viewer Documentation by Broad Institute.

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/genomicstudy-dataformat
ID
genomicstudy-dataformat
Version
5.0.0
Publisher
Clinical Genomics
Case Sensitive
Yes

Concepts (40)

CodeDisplayDefinition
bamBAM-
bedBED-
bedpeBEDPE-
bedgraphBedGraph-
bigbedbigBed-
bigWigbigWig-
birdsuite-filesBirdsuite-Files-
broadpeakbroadPeak-
cbsCBS-
chemical-reactivity-probing-profilesChemical-Reactivity-Probing-Profiles-
chrom-sizeschrom-sizes-
cnCN-
custom-file-formatsCustom-File-Formats-
cytobandCytoband-
fastaFASTA-
gctGCT-
cramCRAM-
genepredgenePred-
gff-gtfGFF/GTF-
gisticGISTIC-
gobyGoby-
gwasGWAS-
igvIGV-
lohLOH-
maf-multiple-alignment-formatMAF-Multiple Alignment Format-
maf-mutation-annotation-formatMAF-Mutation-Annotation-Format-
merged-bam-fileMerged BAM File-
mutMUT-
narrowpeaknarrowPeak-
pslPSL-
resRES-
rna-secondary-structure-formatsRNA-Secondary-Structure-Formats-
samSAM-
sample-info-attributes-fileSample-Info-Attributes-file-
segSEG-
tdfTDF-
track-lineTrack Line-
type-lineType Line-
vcfVCF-
wigWIG-