Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions
: Molecular Definition Allele Sliced 1
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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 rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:MolecularDefinition ;
fhir:resourceDefinition http://hl7.org/fhir/StructureDefinition/MolecularDefinition|0.1.0-ci-build ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "example-allelesliced1"] ; #
fhir:language [ fhir:v "en"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\" xml:lang=\"en\" lang=\"en\"><p class=\"res-header-id\"><b>Generated Narrative: MolecularDefinition example-allelesliced1</b></p><a name=\"example-allelesliced1\"> </a><a name=\"hcexample-allelesliced1\"> </a><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\">Language: en</p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype dna}\">DNA sequence</span></p><blockquote><p><b>location</b></p><blockquote><p><b>sequenceLocation</b></p><p><b>sequenceContext</b>: <a href=\"MolecularDefinition-example-sequence-lrg584.html\">Starting Sequence Resource: LRG_584</a></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>System</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org LA30100-4}\">0-based interval counting</span></td></tr></table><p><b>start</b>: 5001</p><p><b>end</b>: 97867</p></blockquote></blockquote></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: Allele State</p><p><b>resolvable</b>: <a href=\"DocumentReference-example-genomicFile-ng0083843.html\">DocumentReference: identifier = http://example.org/identifiers/files#11111; status = current; docStatus = preliminary; description = A sample Document Reference instance representing Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), RefSeqGene (LRG_584) on chromosome 10.</a></p></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: Context State</p><blockquote><p><b>relative</b></p><p><b>startingMolecule</b>: <a href=\"MolecularDefinition-example-sequence-lrg584.html\">Starting Sequence Resource: LRG_584</a></p><blockquote><p><b>edit</b></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>System</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org LA30100-4}\">0-based interval counting</span></td></tr></table><p><b>start</b>: 5123</p><p><b>end</b>: 5124</p></blockquote><p><b>replacementMolecule</b>: <a href=\"MolecularDefinition-example-sequence-t.html\">Replacement Sequence Resource: T</a></p><p><b>replacedMolecule</b>: <a href=\"MolecularDefinition-example-sequence-c.html\">Replaced Sequence Resource: C</a></p></blockquote></blockquote></blockquote></div>"^^rdf:XMLLiteral ]
] ; #
fhir:moleculeType [
( fhir:coding [
fhir:system [
fhir:v "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype> ] ;
fhir:code [ fhir:v "dna" ] ;
fhir:display [ fhir:v "DNA sequence" ] ] )
] ; #
fhir:location ( [
fhir:sequenceLocation [
fhir:sequenceContext [
fhir:l fhir:MolecularDefinition/example-sequence-lrg584 ;
fhir:reference [ fhir:v "MolecularDefinition/example-sequence-lrg584" ] ;
fhir:type [
fhir:v "MolecularDefinition"^^xsd:anyURI ;
fhir:l fhir:MolecularDefinition ] ;
fhir:display [ fhir:v "Starting Sequence Resource: LRG_584" ] ] ;
fhir:coordinateInterval [
fhir:coordinateSystem [
fhir:system [
( fhir:coding [
a loinc:LA30100-4 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "LA30100-4" ] ;
fhir:display [ fhir:v "0-based interval counting" ] ] ) ;
fhir:text [ fhir:v "0-based interval counting" ] ] ] ;
fhir:start [
a fhir:Quantity ;
fhir:value [ fhir:v "5001"^^xsd:decimal ] ] ;
fhir:end [
a fhir:Quantity ;
fhir:value [ fhir:v "97867"^^xsd:decimal ] ] ] ]
] ) ; #
fhir:representation ( [
fhir:focus [ fhir:v "allele-state" ] ;
fhir:resolvable [
fhir:l fhir:DocumentReference/example-genomicFile-ng0083843 ;
fhir:reference [ fhir:v "DocumentReference/example-genomicFile-ng0083843" ] ]
] [
fhir:focus [ fhir:v "context-state" ] ;
fhir:relative [
fhir:startingMolecule [
fhir:l fhir:MolecularDefinition/example-sequence-lrg584 ;
fhir:reference [ fhir:v "MolecularDefinition/example-sequence-lrg584" ] ;
fhir:type [
fhir:v "MolecularDefinition"^^xsd:anyURI ;
fhir:l fhir:MolecularDefinition ] ;
fhir:display [ fhir:v "Starting Sequence Resource: LRG_584" ] ] ;
( fhir:edit [
fhir:coordinateInterval [
fhir:coordinateSystem [
fhir:system [
( fhir:coding [
a loinc:LA30100-4 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "LA30100-4" ] ;
fhir:display [ fhir:v "0-based interval counting" ] ] ) ;
fhir:text [ fhir:v "0-based interval counting" ] ] ] ;
fhir:start [
a fhir:Quantity ;
fhir:value [ fhir:v "5123"^^xsd:decimal ] ] ;
fhir:end [
a fhir:Quantity ;
fhir:value [ fhir:v "5124"^^xsd:decimal ] ] ] ;
fhir:replacementMolecule [
fhir:l fhir:MolecularDefinition/example-sequence-t ;
fhir:reference [ fhir:v "MolecularDefinition/example-sequence-t" ] ;
fhir:type [
fhir:v "MolecularDefinition"^^xsd:anyURI ;
fhir:l fhir:MolecularDefinition ] ;
fhir:display [ fhir:v "Replacement Sequence Resource: T" ] ] ;
fhir:replacedMolecule [
fhir:l fhir:MolecularDefinition/example-sequence-c ;
fhir:reference [ fhir:v "MolecularDefinition/example-sequence-c" ] ;
fhir:type [
fhir:v "MolecularDefinition"^^xsd:anyURI ;
fhir:l fhir:MolecularDefinition ] ;
fhir:display [ fhir:v "Replaced Sequence Resource: C" ] ] ] ) ]
] ) . #
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