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Example MolecularSequence/sequence-complex-variant (Turtle)

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

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

Example of representing complex variants in MolecularSequence resource

@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-complex-variant"] ; # 
  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-complex-variant\"> </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-complex-variant&quot; </p></div><p><b>identifier</b>: id: ?ngen-9? (use: OFFICIAL)</p><p><b>type</b>: dna</p><p><b>specimen</b>: <a href=\"broken-link.html\">Specimen/genetics-example1-somatic: Molecular Specimen ID: MLD45-Z4-1234</a></p><p><b>device</b>: <span>: 12 lead EKG Device Metric</span></p><p><b>performer</b>: <a href=\"organization-example.html\">Organization/hl7: HL7</a> &quot;Health Level Seven International&quot;</p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 0-based interval counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30100-4)</span></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><td><b>Strand</b></td></tr><tr><td style=\"display: none\">*</td><td>NC_000002.12 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NC_000002.12)</span></td><td>128273724</td><td>128273754</td><td>watson</td></tr></table><h3>Edits</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ReplacementSequence</b></td><td><b>ReplacedSequence</b></td></tr><tr><td style=\"display: none\">*</td><td>128273724</td><td>128273736</td><td>CTCATTGT</td><td>CTCCATTGCATGCGTT</td></tr></table></blockquote></div>"
  ] ; # 
  fhir:identifier ( [
     fhir:use [ fhir:v "official" ]
  ] ) ; # 
  fhir:type [ fhir:v "dna"] ; # 
  fhir:specimen [
     fhir:reference [ fhir:v "Specimen/genetics-example1-somatic" ] ;
     fhir:display [ fhir:v "Molecular Specimen ID: MLD45-Z4-1234" ]
  ] ; # 
  fhir:device [
     fhir:display [ fhir:v "12 lead EKG Device Metric" ]
  ] ; # 
  fhir:performer [
     fhir:reference [ fhir:v "Organization/hl7" ] ;
     fhir:display [ fhir:v "HL7" ]
  ] ; # 
  fhir:relative ( [
     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: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 "NC_000002.12" ]
         ] )
       ] ;
       fhir:windowStart [ fhir:v "128273724"^^xsd:integer ] ;
       fhir:windowEnd [ fhir:v "128273754"^^xsd:integer ] ;
       fhir:strand [ fhir:v "watson" ]
     ] ;
     fhir:edit ( [
       fhir:start [ fhir:v "128273724"^^xsd:integer ] ;
       fhir:end [ fhir:v "128273736"^^xsd:integer ] ;
       fhir:replacementSequence [ fhir:v "CTCATTGT" ] ;
       fhir:replacedSequence [ fhir:v "CTCCATTGCATGCGTT" ]
     ] )
  ] )] . # 

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


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.