Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Resource Profile: GenomicDataFile - Examples

Active as of 2024-04-09

Examples for the genomic-data-file Profile.

CNVAnalysis-called
FullGenome-GRCh38
SimpleVariantAnalysis-called
UncallableRegions
WES-FullSequencedRegion-GRCh38
WES-UncallableRegions-GRCh38
genomicFileFatherBAM
genomicFileMotherBAM
genomicFileProbandBAM
genomicFileProbandVCF
genomicVCFfile-cnv
genomicVCFfile-simple
somaticVCFfile