This page is part of the FHIR Specification (v5.0.0: R5 - STU). This is the current published version in it's permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions 
Example MolecularSequence/sequence-example-fusion (Turtle)
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></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 "sequence-example-fusion" </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>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</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>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</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 ]
]
] )] . #
# -------------------------------------------------------------------------------------
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.
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