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

ResourceObservation "VariantExample"

Profile: Variant

status: final

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: Patient/HG00403 " EVERYONE"

effective: 2019-04-01

performer: Organization/ExampleOrg "some lab"

value: Present (LOINC#LA9633-4)

component

code: Genomic reference sequence [ID] (LOINC#48013-7)

value: NC_000017.11 (Gene Reference Sequence Collection#NC_000017.11)

component

code: Ref nucleotide (LOINC#69547-8)

value: ATTGAGGGAAAACACAT

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic allele start-end (LOINC#81254-5)

value: 39723965-?

component

code: Genomic coord system (LOINC#92822-6)

value: 0-based interval counting (LOINC#LA30100-4)