Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 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 4.0.0-ballot 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 GenomicStudy: PGXGenomicStudy

Page standards status: Informative

status: Available

type: PGX sequencing panel

subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))

startDate: 2021-01-01

basedOn: ServiceRequest emerge-seq-ngs-pnl

note:

For technical reasons, PIK3CB was deemed uncallable.

Analyses

-GenomeBuildDateNote
*GRCh382021-01-01 01:01:10-0600

protein-coding and exon-splicing regions