Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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

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Resource Profile: GenomicDataFile - Examples

Active as of 2024-11-19

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