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Example MolecularSequence/sequence-example-fusion (Turtle)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

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

BCR-ABL1 fusion (COSMIC https://cancer.sanger.ac.uk/cosmic/fusion/summary?id=1755). 5-prime end comprised of BCR exons 1-14. 3-prime end comprised of ABL1 exons 2-11.

@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:MolecularSequence ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "sequence-example-fusion"] ; #    BCR-ABL1 fusion (COSMIC https://cancer.sanger.ac.uk/cosmic/fusion/summary?id=1755). 5-prime end comprised of BCR exons 1-14. 3-prime end comprised of ABL1 exons 2-11.   
  fhir:text [
     fhir:status [ fhir:v "generated" ] ;
     fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"sequence-example-fusion\"> </a><a name=\"hcsequence-example-fusion\"> </a></p><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\">Resource MolecularSequence &quot;sequence-example-fusion&quot; </p></div><p><b>type</b>: rna</p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><p><b>ordinalPosition</b>: 1</p><p><b>sequenceRange</b>: 1-3234</p><h3>StartingSequences</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>NM_004327.4 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NM_004327.4)</span></td><td>1</td><td>3234</td></tr></table></blockquote><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><p><b>ordinalPosition</b>: 2</p><p><b>sequenceRange</b>: 3235-8367</p><h3>StartingSequences</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>NM_005157.6 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NM_005157.6)</span></td><td>174</td><td>5306</td></tr></table></blockquote></div>"
  ] ; # 
  fhir:type [ fhir:v "rna"] ; # 
  fhir:relative ( [
     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:ordinalPosition [ fhir:v "1"^^xsd:integer ] ;
     fhir:sequenceRange [
       fhir:low [
         fhir:value [ fhir:v "1"^^xsd:decimal ]
       ] ;
       fhir:high [
         fhir:value [ fhir:v "3234"^^xsd:decimal ]
       ]
     ] ;
     fhir:startingSequence [
       fhir:sequence [
         a fhir:CodeableConcept ;
         fhir:coding ( [
           fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/nuccore"^^xsd:anyURI ] ;
           fhir:code [ fhir:v "NM_004327.4" ]
         ] )
       ] ;
       fhir:windowStart [ fhir:v "1"^^xsd:integer ] ;
       fhir:windowEnd [ fhir:v "3234"^^xsd:integer ]
     ]
  ] [
     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:ordinalPosition [ fhir:v "2"^^xsd:integer ] ;
     fhir:sequenceRange [
       fhir:low [
         fhir:value [ fhir:v "3235"^^xsd:decimal ]
       ] ;
       fhir:high [
         fhir:value [ fhir:v "8367"^^xsd:decimal ]
       ]
     ] ;
     fhir:startingSequence [
       fhir:sequence [
         a fhir:CodeableConcept ;
         fhir:coding ( [
           fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/nuccore"^^xsd:anyURI ] ;
           fhir:code [ fhir:v "NM_005157.6" ]
         ] )
       ] ;
       fhir:windowStart [ fhir:v "174"^^xsd:integer ] ;
       fhir:windowEnd [ fhir:v "5306"^^xsd:integer ]
     ]
  ] )] . # 

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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.