Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot
Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot
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
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🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
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"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Procedure</b><a name=\"analysisTumorNormalDNA\"> </a><a name=\"hcanalysisTumorNormalDNA\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource Procedure "analysisTumorNormalDNA" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-study-analysis.html\">Genomic Study Analysis</a></p></div><blockquote><p><b>Genomic Study Analysis Regions</b></p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-WES-FullSequencedRegion-GRCh38.html\">DocumentReference/WES-FullSequencedRegion-GRCh38</a></p><blockquote><p><b>url</b></p><code>uncalled</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-WES-UncallableRegions-GRCh38.html\">DocumentReference/WES-UncallableRegions-GRCh38</a></p></blockquote><p><b>Genomic Study Analysis Method Type</b>: Sequence analysis of the entire coding region <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-genomic-study-method-type-cs.html\">Genomic Study Method Type CodeSystem</a>#sequence-analysis-of-the-entire-coding-region)</span></p><p><b>Genomic Study Analysis Method Type</b>: Deletion/duplication analysis <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-genomic-study-method-type-cs.html\">Genomic Study Method Type CodeSystem</a>#deletion-duplication-analysis)</span></p><p><b>Genomic Study Analysis Change Type</b>: SNV <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (sequenceontology.org#SO:0001483)</span></p><p><b>Genomic Study Analysis Change Type</b>: MNV <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (sequenceontology.org#SO:0002007)</span></p><p><b>Genomic Study Analysis Change Type</b>: delins <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (sequenceontology.org#SO:1000032)</span></p><p><b>Genomic Study Analysis Change Type</b>: CNV <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (sequenceontology.org#SO:0001019)</span></p><p><b>Genomic Study Analysis Genome Build</b>: GRCh38 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA26806-2)</span></p><p><b>Genomic Study Analysis Specimen</b>: <a href=\"Specimen-tumorSpecimen.html\">Specimen/tumorSpecimen</a></p><p><b>Genomic Study Analysis Specimen</b>: <a href=\"Specimen-normalSpecimen.html\">Specimen/normalSpecimen</a></p><p><b>Genomic Study Analysis Focus</b>: <a href=\"Patient-somaticPatient.html\">Patient/somaticPatient</a> " HAMSBURG"</p><blockquote><p><b>Genomic Study Analysis Output</b></p><blockquote><p><b>url</b></p><code>type</code></blockquote><p><b>value</b>: VCF <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-genomic-study-data-format-cs.html\">Genomic Study Data Format CodeSystem</a>#vcf)</span></p><blockquote><p><b>url</b></p><code>file</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-somaticVCFfile.html\">DocumentReference/somaticVCFfile</a></p></blockquote><p><b>status</b>: completed</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>subject</b>: <a href=\"Patient-somaticPatient.html\">Patient/somaticPatient</a> " HAMSBURG"</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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"valueReference" : {
🔗 "reference" : "DocumentReference/WES-FullSequencedRegion-GRCh38"
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"url" : "uncalled",
"valueReference" : {
🔗 "reference" : "DocumentReference/WES-UncallableRegions-GRCh38"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
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"valueCodeableConcept" : {
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"valueCodeableConcept" : {
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"valueReference" : {
🔗 "reference" : "Specimen/tumorSpecimen"
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"valueReference" : {
🔗 "reference" : "Specimen/normalSpecimen"
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"valueReference" : {
🔗 "reference" : "Patient/somaticPatient"
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"display" : "VCF"
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🔗 "reference" : "DocumentReference/somaticVCFfile"
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"status" : "completed",
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🔗 "reference" : "Patient/somaticPatient"
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"performedDateTime" : "2023-02-02T01:01:10-06:00",
"note" : [
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"text" : "For technical reasons, BCR gene was deemed uncallable."
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IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.1-SNAPSHOT based on FHIR 4.0.1. Generated 2024-04-09
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