Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Procedure: genomicstudyanalysis-trio2

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