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
: genomicstudyanalysis-trio2 - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:Procedure ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "genomicstudyanalysis-trio2"] ; #
fhir:meta [
( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Procedure</b><a name=\"genomicstudyanalysis-trio2\"> </a><a name=\"hcgenomicstudyanalysis-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 "genomicstudyanalysis-trio2" </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> " DENOVO"</p><p><b>Genomic Study Analysis Focus</b>: <a href=\"Patient-denovoMother.html\">Patient/denovoMother</a> " DENOVO"</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> " DENOVO"</p><p><b>performed</b>: 2023-10-01</p></div>"
] ; #
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fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
a loinc:LA26806-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA26806-2" ] ;
fhir:display [ fhir:v "GRCh38" ] ] ) ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus"^^xsd:anyURI ] ;
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fhir:reference [ fhir:v "Patient/denovoFather" ] ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "Patient/denovoMother" ] ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title"^^xsd:anyURI ] ;
fhir:value [ fhir:v "Parental Sequence Variation Detection Using Next Generation Sequencing" ]
] [
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] [
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fhir:display [ fhir:v "BAM" ] ] ) ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"^^xsd:anyURI ]
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fhir:url [ fhir:v "file"^^xsd:anyURI ] ;
fhir:value [
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fhir:url [ fhir:v "type"^^xsd:anyURI ] ;
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fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "bam" ] ;
fhir:display [ fhir:v "BAM" ] ] ) ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"^^xsd:anyURI ]
] [
( fhir:extension [
fhir:url [ fhir:v "file"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "DocumentReference/genomicFileFatherBAM" ] ] ] [
fhir:url [ fhir:v "type"^^xsd:anyURI ] ;
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fhir:code [ fhir:v "bam" ] ;
fhir:display [ fhir:v "BAM" ] ] ) ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input"^^xsd:anyURI ]
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fhir:url [ fhir:v "file"^^xsd:anyURI ] ;
fhir:value [
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fhir:reference [ fhir:v "DocumentReference/genomicFileProbandVCF" ] ] ] [
fhir:url [ fhir:v "type"^^xsd:anyURI ] ;
fhir:value [
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( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs"^^xsd:anyURI ] ;
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fhir:display [ fhir:v "VCF" ] ] ) ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output"^^xsd:anyURI ]
] ) ; #
fhir:instantiatesUri ( [ fhir:v "https://pubmed.ncbi.nlm.nih.gov/33927380/"^^xsd:anyURI] ) ; #
fhir:status [ fhir:v "completed"] ; #
fhir:category [
( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ] ] )
] ; #
fhir:subject [
fhir:reference [ fhir:v "Patient/denovoChild" ]
] ; #
fhir:performed [ fhir:v "2023-10-01"^^xsd:date] . #
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