Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Resource Profile: GenomicDataFile - Examples

Active as of 2023-12-18

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