Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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 lungMass-analysis1
Genomic Study Analysis Method Type: Sequence analysis of the entire coding region
Genomic Study Analysis Source Class: Somatic
Genomic Study Analysis Change Type: SNV
Genomic Study Analysis Change Type: MNV
Genomic Study Analysis Change Type: delins
Genomic Study Analysis Genome Build: GRCh38
Genomic Study Analysis Specimen: Specimen: identifier = http://www.somesystemabc.net/identifiers/specimens#4; status = available; type = Specimen from lung obtained by biopsy (specimen); receivedTime = 2019-03-01 01:01:01+0000
Genomic Study Analysis Focus: John Junior Doe (official) Unknown, DoB: 2001-01-01 ( Medical record number: 11117 (use: temp, period: 2021-01-01 --> (ongoing)))
Genomic Study Analysis Device
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
- uncalled: DocumentReference: identifier = http://www.somesystemabc.net/identifiers/files#11125; status = current; docStatus = preliminary; description = Representing a BED file that represents uncallable regions; securityLabel = Restricted
- called: DocumentReference: identifier = http://www.somesystemabc.net/identifiers/files#11118; status = current; docStatus = preliminary; description = SimpleVariantAnalysis_called: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.; securityLabel = Restricted
Genomic Study Analysis Output
instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/
status: Completed
category: Laboratory
performed: 2019-03-01 01:01:10-0600
Function | Actor |
Performer | Practitioner Jane Doel |
note: For technical reasons, PIK3CB was deemed uncallable using this method.