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: lungMass-analysis2

Generated Narrative: Procedure

ResourceProcedure "lungMass-analysis2"

Profile: Genomic Study Analysis

Genomic Study Analysis Method Type: Deletion/duplication analysis (Genomic Study Method Type CodeSystem#deletion-duplication-analysis)

Genomic Study Analysis Change Type: CNV (sequenceontology.org#SO:0001019)

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

Genomic Study Analysis Specimen: Specimen/genomicSpecimen

Genomic Study Analysis Focus: Patient/genomicPatient " DOE"

Genomic Study Analysis Regions

url

studied

value: DocumentReference/WES-FullSequencedRegion-GRCh38

url

called

value: DocumentReference/CNVAnalysis-called

Genomic Study Analysis Output

url

type

value: VCF (Genomic Study Data Format CodeSystem#vcf)

url

file

value: DocumentReference/genomicVCFfile-cnv

instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/

status: completed

category: Laboratory (Observation Category Codes#laboratory)

subject: Patient/genomicPatient " DOE"

performed: 2019-03-01 01:01:10-0600

Performers

-FunctionActor
*Performer (ParticipationType#PRF)Practitioner/practitioner02 " DOEL"

note: For technical reasons, PIK3CB was deemed uncallable using this method.