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 Observation: SNVexample

Generated Narrative: Observation SNVexample

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Anonymous Patient (no stated gender), DoB Unknown

effective: 2023-06-01

performer: Organization Some lab

value: Present

method: Sequencing

specimen: Identifier: http://slk-kliniken.de/fhir/namingSystem/tissueID/16-123456-23

component

code: Gene studied ID

value: AR

component

code: Cytogenetic (chromosome) location

value: chrX

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic source class

value: Somatic

component

code: DNA change (c.HGVS)

value: NM_000044.6:c.7G>A

component

code: Amino acid change (pHGVS)

value: NP_000035.2:p.Val3Met

component

code: Transcript reference sequence [ID]

value: NM_000044.6

component

code: Sample VAF

value: 0.44 decimal

component

code: Allelic read depth

value: 120 reads per base pair (Details: UCUM code1 = '1')