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
Generated Narrative: Procedure
Resource Procedure "genomicstudyanalysis-trio2"
Profile: Genomic Study Analysis
Genomic Study Analysis Genome Build: GRCh38 (LOINC#LA26806-2)
Genomic Study Analysis Focus: Patient/denovoFather " DENOVO"
Genomic Study Analysis Focus: Patient/denovoMother " DENOVO"
Genomic Study Analysis Title: Parental Sequence Variation Detection Using Next Generation Sequencing
Genomic Study Analysis Protocol Performed: Procedure/SequencingProcedure
Genomic Study Analysis Input
url
file
value: DocumentReference/genomicFileProbandBAM
url
type
value: BAM (Genomic Study Data Format CodeSystem#bam)
Genomic Study Analysis Input
url
file
value: DocumentReference/genomicFileMotherBAM
url
type
value: BAM (Genomic Study Data Format CodeSystem#bam)
Genomic Study Analysis Input
url
file
value: DocumentReference/genomicFileFatherBAM
url
type
value: BAM (Genomic Study Data Format CodeSystem#bam)
Genomic Study Analysis Output
url
file
value: DocumentReference/genomicFileProbandVCF
url
type
value: VCF (Genomic Study Data Format CodeSystem#vcf)
instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/
status: completed
category: Laboratory (Observation Category Codes#laboratory)
subject: Patient/denovoChild " DENOVO"
performed: 2023-10-01