Genomics Reporting Implementation Guide
3.0.0 - STU3 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 3.0.0 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

Example Observation: variant-with-molec-consequences

Generated Narrative: Observation variant-with-molec-consequences

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))

effective: 2023-06-01

performer: Organization Some lab

value: Present

component

code: Genomic source class

value: Germline

component

code: Genomic reference sequence ID

value: NC_000001.10

component

code: Allelic state

value: Heterozygous

component

code: Discrete genetic variant

value: NC_000001.10:g.86852621A>G

component

code: Sample VAF

value: 0.6 relative frequency of a particular allele in the specimen (Details: UCUM code1 = '1')

component

code: Genomic Ref allele [ID]

value: A

component

code: Genomic Alt allele [ID]

value: G

component

code: Genomic coord system

value: 0-based interval counting

component

code: Variant exact start-end

value: 86852620-?

component

code: Population allele frequency

value: 0.327084 1 (Details: UCUM code1 = '1')