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
Generated Narrative: Procedure
Resource Procedure "analysisTumorNormalDNA"
Profile: Genomic Study Analysis
Genomic Study Analysis Regions
url
studied
value: DocumentReference/WES-FullSequencedRegion-GRCh38
url
uncalled
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
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.