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

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

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

Example of Sequence profile of FMR1 CGG motif repeated 20 times

@prefix fhir: <http://hl7.org/fhir/> .
@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-sequence-fmr1-cgg-20x-repeat"] ; # 
  fhir:meta [
     fhir:profile ( [
       fhir:v "http://hl7.org/fhir/StructureDefinition/sequence"^^xsd:anyURI ;
       fhir:link <http://hl7.org/fhir/StructureDefinition/sequence>
     ] )
  ] ; # 
  fhir:type [ fhir:v "dna"] ; # 
  fhir:representation ( [
     fhir:repeated [
       fhir:sequenceMotif [
         fhir:reference [ fhir:v "MolecularDefinition/example-sequence-cgg" ] ;
         fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
         fhir:display [ fhir:v "CGG" ]
       ] ;
       fhir:copyCount [ fhir:v "20"^^xsd:integer ]
     ]
  ] )] . # 

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

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.