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Example MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-referenced (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 using CGG motifs edited by external 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 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-edited-referenced"] ; # 
  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:relative [
       fhir:startingMolecule [
         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:coordinateSystem [
           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:start [ fhir:v "31"^^xsd:integer ] ;
         fhir:end [ fhir:v "31"^^xsd:integer ] ;
         fhir:replacementMolecule [
           fhir:reference [ fhir:v "MolecularDefinition/example-sequence-a" ] ;
           fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
           fhir:display [ fhir:v "A" ]
         ] ;
         fhir:replacedMolecule [
           fhir:reference [ fhir:v "MolecularDefinition/example-sequence-c" ] ;
           fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
           fhir:display [ fhir:v "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.