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Example MolecularDefinition/example-allelesliced1 (Turtle)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: No defined compartments

Raw Turtle (+ also see Turtle/RDF Format Specification)

Example of Allele profile including slices

@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:MolecularDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "example-allelesliced1"] ; # 
  fhir:meta [
     fhir:profile ( [
       fhir:v "http://hl7.org/fhir/StructureDefinition/allelesliced"^^xsd:anyURI ;
       fhir:link <http://hl7.org/fhir/StructureDefinition/allelesliced>
     ] )
  ] ; # 
  fhir:type [ fhir:v "dna"] ; # 
  fhir:location ( [
     fhir:sequenceLocation [
       fhir:sequenceContext [
         fhir:reference [ fhir:v "MolecularDefinition/example-sequence-lrg584" ] ;
         fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
         fhir:display [ fhir:v "Starting Sequence Resource: LRG_584" ]
       ] ;
       fhir:coordinateInterval [
         fhir:numberingSystem [
           fhir:coding ( [
             a loinc:LA30100-4 ;
             fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
             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:coding ( [
         fhir:system [ fhir:v "http://hl7.org/fhir/moleculardefinition-focus"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "allele-state" ] ;
         fhir:display [ fhir:v "Allele State" ]
       ] )
     ] ;
     fhir:resolvable [
       fhir:reference [ fhir:v "DocumentReference/example-genomicFile-ng0083843" ] #              <url value=\"https:\/\/www.ncbi.nlm.nih.gov\/nuccore\/NG_008384.3\"\/> 
     ]
  ] [
     fhir:focus [
       fhir:coding ( [
         fhir:system [ fhir:v "http://hl7.org/fhir/moleculardefinition-focus"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "context-state" ] ;
         fhir:display [ fhir:v "Context State" ]
       ] )
     ] ;
     fhir:relative [
       fhir:startingMolecule [
         fhir:reference [ fhir:v "MolecularDefinition/example-sequence-lrg584" ] ;
         fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
         fhir:display [ fhir:v "Starting Sequence Resource: LRG_584" ]
       ] ;
       fhir:edit ( [
         fhir:coordinateSystem [
           fhir:coding ( [
             a loinc:LA30100-4 ;
             fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
             fhir:code [ fhir:v "LA30100-4" ] ;
             fhir:display [ fhir:v "0-based interval counting" ]
           ] ) ;
           fhir:text [ fhir:v "0-based interval counting" ]
         ] ;
         fhir:start [ fhir:v "5123"^^xsd:integer ] ;
         fhir:end [ fhir:v "5124"^^xsd:integer ] ;
         fhir:replacementMolecule [
           fhir:reference [ fhir:v "MolecularDefinition/example-sequence-t" ] ;
           fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
           fhir:display [ fhir:v "Replacement Sequence Resource: T" ]
         ] ;
         fhir:replacedMolecule [
           fhir:reference [ fhir:v "MolecularDefinition/example-sequence-c" ] ;
           fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
           fhir:display [ fhir:v "Replaced Sequence Resource: C" ]
         ]
       ] )
     ]
  ] )] . # 

# -------------------------------------------------------------------------------------


Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.