Genomics Reporting Implementation Guide
3.0.0 - STU3
Genomics Reporting Implementation Guide
3.0.0 - STU3
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
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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Procedure analysisTumorNormalDNA</b></p><a name="analysisTumorNormalDNA"> </a><a name="hcanalysisTumorNormalDNA"> </a><a name="analysisTumorNormalDNA-en-US"> </a><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>studied: <a href="DocumentReference-WES-FullSequencedRegion-GRCh38.html">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</a></li><li>studied: <span title="Codes:{http://www.genenames.org HGNC:76}">ABL1</span></li><li>studied: <span title="Codes:{http://www.genenames.org HGNC:427}">ALK</span></li><li>studied: <span title="Codes:{http://www.genenames.org HGNC:583}">APC</span></li><li>uncalled: <a href="DocumentReference-WES-UncallableRegions-GRCh38.html">DocumentReference: identifier = http://www.somesystemabc.net/identifiers/files#11146520; status = current; docStatus = preliminary; description = Regions deemed uncallable (generally due to low coverage).; securityLabel = Restricted</a></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs sequence-analysis-of-the-entire-coding-region}">Sequence analysis of the entire coding region</span></p><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs deletion-duplication-analysis}">Deletion/duplication analysis</span></p><p><b>Genomic Study Analysis Change Type</b>: <span title="Codes:{http://www.sequenceontology.org SO:0001483}">SNV</span></p><p><b>Genomic Study Analysis Change Type</b>: <span title="Codes:{http://www.sequenceontology.org SO:0002007}">MNV</span></p><p><b>Genomic Study Analysis Change Type</b>: <span title="Codes:{http://www.sequenceontology.org SO:1000032}">delins</span></p><p><b>Genomic Study Analysis Change Type</b>: <span title="Codes:{http://www.sequenceontology.org SO:0001019}">CNV</span></p><p><b>Genomic Study Analysis Genome Build</b>: <span title="Codes:{http://loinc.org LA26806-2}">GRCh38</span></p><p><b>Genomic Study Analysis Specimen</b>: <a href="Specimen-tumorSpecimen.html">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%</a></p><p><b>Genomic Study Analysis Specimen</b>: <a href="Specimen-normalSpecimen.html">Specimen: identifier = http://www.somesystemabc.net/identifiers/specimens#444555; status = available; type = Blood specimen (specimen); receivedTime = 2023-01-23 01:01:01+0000</a></p><p><b>Genomic Study Analysis Focus</b>: <a href="Patient-somaticPatient.html">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))</a></p><blockquote><p><b>Genomic Study Analysis Output</b></p><ul><li>type: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs vcf}">VCF</span></li><li>file: <a href="DocumentReference-somaticVCFfile.html">DocumentReference: identifier = http://www.somesystemabc.net/identifiers/files#1134121; status = current; docStatus = preliminary; description = VCF file containing identified variants; securityLabel = Restricted</a></li></ul></blockquote><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>subject</b>: <a href="Patient-somaticPatient.html">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))</a></p><p><b>performed</b>: 2023-02-02 01:01:10-0600</p><p><b>note</b>: For technical reasons, BCR gene was deemed uncallable.</p></div>
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IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0 based on FHIR 4.0.1. Generated 2024-12-12
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