Genomics Reporting Implementation Guide
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This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: genomicstudyanalysis-trio2 - JSON Representation

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    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Procedure</b><a name=\"genomicstudyanalysis-trio2\"> </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 &quot;genomicstudyanalysis-trio2&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-study-analysis.html\">Genomic Study Analysis</a></p></div><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 Focus</b>: <a href=\"Patient-denovoFather.html\">Patient/denovoFather</a> &quot; DENOVO&quot;</p><p><b>Genomic Study Analysis Focus</b>: <a href=\"Patient-denovoMother.html\">Patient/denovoMother</a> &quot; DENOVO&quot;</p><p><b>Genomic Study Analysis Title</b>: Parental Sequence Variation Detection Using Next Generation Sequencing</p><p><b>Genomic Study Analysis Protocol Performed</b>: <a href=\"Procedure-SequencingProcedure.html\">Procedure/SequencingProcedure</a></p><blockquote><p><b>Genomic Study Analysis Input</b></p><blockquote><p><b>url</b></p><code>file</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-genomicFileProbandBAM.html\">DocumentReference/genomicFileProbandBAM</a></p><blockquote><p><b>url</b></p><code>type</code></blockquote><p><b>value</b>: BAM <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>#bam)</span></p></blockquote><blockquote><p><b>Genomic Study Analysis Input</b></p><blockquote><p><b>url</b></p><code>file</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-genomicFileMotherBAM.html\">DocumentReference/genomicFileMotherBAM</a></p><blockquote><p><b>url</b></p><code>type</code></blockquote><p><b>value</b>: BAM <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>#bam)</span></p></blockquote><blockquote><p><b>Genomic Study Analysis Input</b></p><blockquote><p><b>url</b></p><code>file</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-genomicFileFatherBAM.html\">DocumentReference/genomicFileFatherBAM</a></p><blockquote><p><b>url</b></p><code>type</code></blockquote><p><b>value</b>: BAM <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>#bam)</span></p></blockquote><blockquote><p><b>Genomic Study Analysis Output</b></p><blockquote><p><b>url</b></p><code>file</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-genomicFileProbandVCF.html\">DocumentReference/genomicFileProbandVCF</a></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>instantiatesUri</b>: <a href=\"https://pubmed.ncbi.nlm.nih.gov/33927380/\">https://pubmed.ncbi.nlm.nih.gov/33927380/</a></p><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-denovoChild.html\">Patient/denovoChild</a> &quot; DENOVO&quot;</p><p><b>performed</b>: 2023-10-01</p></div>"
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