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
Generated Narrative: Procedure analysisTumorNormalDNA
Genomic Study Analysis Regions
- studied: DocumentReference: identifier = http://www.somesystemabc.net/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://www.somesystemabc.net/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://www.somesystemabc.net/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://www.somesystemabc.net/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
status: Completed
category: Laboratory
performed: 2023-02-02 01:01:10-0600
note: For technical reasons, BCR gene was deemed uncallable.