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: PGXGenomicStudyAnalysis

Generated Narrative: Procedure

ResourceProcedure "PGXGenomicStudyAnalysis"

Profile: Genomic Study Analysis

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

Genomic Study Analysis Metrics

url

sequencing-coverage

value: 100

Genomic Study Analysis Regions

url

description

value: protein-coding and exon-splicing regions

url

studied

value: CYP2C19 (HUGO Gene Nomenclature Committee Genes#HGNC:2621)

url

studied

value: CYP2C9 (HUGO Gene Nomenclature Committee Genes#HGNC:2623)

url

studied

value: VKORC1 (HUGO Gene Nomenclature Committee Genes#HGNC:23663)

status: completed

category: Laboratory (Observation Category Codes#laboratory)

subject: Patient/CGPatientExample01 " EVERYMAN"

performed: 2021-01-01 01:01:10-0600