Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

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-cibuild 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: analysisTumorNormalDNA

Page standards status: Informative

Profile: Genomic Study Analysis

> Genomic Study Analysis Regions

> - studied: DocumentReference: identifier = http://example.org/identifiers/files#11117; status = current; docStatus = preliminary; description = WES_FullSequencedRegion_GRCh38: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.; securityLabel = Restricted
> - studied: ABL1
> - studied: ALK
> - studied: APC
> - uncalled: DocumentReference: identifier = http://example.org/identifiers/files#11146520; status = current; docStatus = preliminary; description = Regions deemed uncallable (generally due to low coverage).; securityLabel = Restricted

Genomic Study Analysis Method Type: Sequence analysis of the entire coding region

Genomic Study Analysis Method Type: Deletion/duplication analysis

Genomic Study Analysis Change Type: SNV

Genomic Study Analysis Change Type: MNV

Genomic Study Analysis Change Type: delins

Genomic Study Analysis Change Type: CNV

Genomic Study Analysis Genome Build: GRCh38

Genomic Study Analysis Specimen: Specimen: identifier = http://example.org/identifiers/specimens#222333; status = available; type = Specimen from lung obtained by biopsy (specimen); receivedTime = 2023-01-23 01:01:01+0000; note = Tumor: 20%

Genomic Study Analysis Specimen: Specimen: identifier = http://example.org/identifiers/specimens#444555; status = available; type = Blood specimen (specimen); receivedTime = 2023-01-23 01:01:01+0000

Genomic Study Analysis Focus: Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))

> Genomic Study Analysis Output

> - type: VCF
> - file: DocumentReference: identifier = http://example.org/identifiers/files#1134121; status = current; docStatus = preliminary; description = VCF file containing identified variants; securityLabel = Restricted

status: Completed

category: Laboratory

subject: Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))

performed: 2023-02-02 01:01:10-0600

note:

> For technical reasons, BCR gene was deemed uncallable.