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Example MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-contained (Turtle)

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

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

Example of Sequence of FMR1 using CGG motifs edited by contained referenced sequence resources

@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 -------------------------------------------------------------------

<http://hl7.org/fhir/MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-contained> a fhir:MolecularDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "example-sequence-fmr1-cgg-20x-edited-contained"] ; # 
  fhir:contained ( [
     a fhir:MolecularDefinition ;
     fhir:id [ fhir:v "replacement" ] ;
     fhir:moleculeType [
       fhir:coding ( [
         fhir:system [ fhir:v "http://hl7.org/fhir/sequence-type"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "dna" ] ;
         fhir:display [ fhir:v "DNA Sequence" ]
       ] )
     ] ;
     fhir:representation ( [
       fhir:literal [
         fhir:value [ fhir:v "A" ]
       ]
     ] )
  ] [
     a fhir:MolecularDefinition ;
     fhir:id [ fhir:v "replaced" ] ;
     fhir:moleculeType [
       fhir:coding ( [
         fhir:system [ fhir:v "http://hl7.org/fhir/sequence-type"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "dna" ] ;
         fhir:display [ fhir:v "DNA Sequence" ]
       ] )
     ] ;
     fhir:representation ( [
       fhir:literal [
         fhir:value [ fhir:v "C" ]
       ]
     ] )
  ] ) ; # 
  fhir:moleculeType [
     fhir:coding ( [
       fhir:system [ fhir:v "http://hl7.org/fhir/sequence-type"^^xsd:anyURI ] ;
       fhir:code [ fhir:v "dna" ] ;
       fhir:display [ fhir:v "DNA Sequence" ]
     ] )
  ] ; # 
  fhir:representation ( [
     fhir:relative [
       fhir:startingMolecule [
         fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat> ;
         fhir:reference [ fhir:v "MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat" ] ;
         fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
         fhir:display [ fhir:v "CGG 20X" ]
       ] ;
       fhir:edit ( [
         fhir:coordinateInterval [
           fhir:coordinateSystem [
             fhir:system [
               fhir:coding ( [
                 a loinc:LA30102-0 ;
                 fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
                 fhir:code [ fhir:v "LA30102-0" ] ;
                 fhir:display [ fhir:v "1-based character counting" ]
               ] ) ;
               fhir:text [ fhir:v "1-based character counting" ]
             ]
           ]
         ] ;
         fhir:replacementMolecule [
           fhir:reference [ fhir:v "#replacement" ] ;
           fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
           fhir:display [ fhir:v "A" ]
         ] ;
         fhir:replacedMolecule [
           fhir:reference [ fhir:v "#replaced" ] ;
           fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
           fhir:display [ fhir:v "C" ]
         ]
       ] )
     ]
  ] ) . # 

<http://hl7.org/fhir/MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat> a fhir:MolecularDefinition .

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


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.