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: VariantExample

Generated Narrative: Observation VariantExample

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: 2019-04-01

performer: Organization some lab

value: Present

component

code: Genomic reference sequence [ID]

value: NC_000017.11

component

code: Ref nucleotide

value: ATTGAGGGAAAACACAT

component

code: Alt allele

value: T

component

code: Genomic allele start-end

value: 39723965-?

component

code: Genomic coord system

value: 0-based interval counting