Genomics Reporting Implementation Guide
3.0.0 - STU3 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 3.0.0 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: genomicstudyanalysis-trio2

Generated Narrative: Procedure genomicstudyanalysis-trio2

Genomic Study Analysis Genome Build: GRCh38

Genomic Study Analysis Focus: Father Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 6789-11111 (use: temp, ))

Genomic Study Analysis Focus: Mother Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 0987-11111 (use: temp, ))

Genomic Study Analysis Title: Parental Sequence Variation Detection Using Next Generation Sequencing

Genomic Study Analysis Protocol Performed: Procedure Sequencing of entire coding region of gene (procedure)

Genomic Study Analysis Input

Genomic Study Analysis Input

Genomic Study Analysis Input

Genomic Study Analysis Output

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

status: Completed

category: Laboratory

subject: Child Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 1234-11111 (use: temp, ))

performed: 2023-10-01