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

Example Procedure: analysisTumorNormalDNA

Generated Narrative: Procedure

ResourceProcedure "analysisTumorNormalDNA"

Profile: Genomic Study Analysis

Genomic Study Analysis Regions

url

studied

value: DocumentReference/WES-FullSequencedRegion-GRCh38

url

studied

value: ABL1 (HUGO Gene Nomenclature Committee Genes#HGNC:76)

url

studied

value: ALK (HUGO Gene Nomenclature Committee Genes#HGNC:427)

url

studied

value: APC (HUGO Gene Nomenclature Committee Genes#HGNC:583)

url

uncalled

value: DocumentReference/WES-UncallableRegions-GRCh38

Genomic Study Analysis Method Type: Sequence analysis of the entire coding region (Genomic Study Method Type CodeSystem#sequence-analysis-of-the-entire-coding-region)

Genomic Study Analysis Method Type: Deletion/duplication analysis (Genomic Study Method Type CodeSystem#deletion-duplication-analysis)

Genomic Study Analysis Change Type: SNV (sequenceontology.org#SO:0001483)

Genomic Study Analysis Change Type: MNV (sequenceontology.org#SO:0002007)

Genomic Study Analysis Change Type: delins (sequenceontology.org#SO:1000032)

Genomic Study Analysis Change Type: CNV (sequenceontology.org#SO:0001019)

Genomic Study Analysis Genome Build: GRCh38 (LOINC#LA26806-2)

Genomic Study Analysis Specimen: Specimen/tumorSpecimen

Genomic Study Analysis Specimen: Specimen/normalSpecimen

Genomic Study Analysis Focus: Patient/somaticPatient " HAMSBURG"

Genomic Study Analysis Output

url

type

value: VCF (Genomic Study Data Format CodeSystem#vcf)

url

file

value: DocumentReference/somaticVCFfile

status: completed

category: Laboratory (Observation Category Codes#laboratory)

subject: Patient/somaticPatient " HAMSBURG"

performed: 2023-02-02 01:01:10-0600

note: For technical reasons, BCR gene was deemed uncallable.