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Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Patient |
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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: <http://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:Resource.id [ fhir:value "sequence-example-fusion"]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.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:MolecularSequence.type [ fhir:value "rna"]; fhir:MolecularSequence.relative [ fhir:index 0; fhir:MolecularSequence.relative.coordinateSystem [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:LA30102-0; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "LA30102-0" ]; fhir:Coding.display [ fhir:value "1-based character counting" ] ] ]; fhir:MolecularSequence.relative.ordinalPosition [ fhir:value "1"^^xsd:integer ]; fhir:MolecularSequence.relative.sequenceRange [ fhir:Range.low [ fhir:Quantity.value [ fhir:value "1"^^xsd:decimal ] ]; fhir:Range.high [ fhir:Quantity.value [ fhir:value "3234"^^xsd:decimal ] ] ]; fhir:MolecularSequence.relative.startingSequence [ fhir:MolecularSequence.relative.startingSequence.sequenceCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/nuccore" ]; fhir:Coding.code [ fhir:value "NM_004327.4" ] ] ]; fhir:MolecularSequence.relative.startingSequence.windowStart [ fhir:value "1"^^xsd:integer ]; fhir:MolecularSequence.relative.startingSequence.windowEnd [ fhir:value "3234"^^xsd:integer ] ] ], [ fhir:index 1; fhir:MolecularSequence.relative.coordinateSystem [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:LA30102-0; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "LA30102-0" ]; fhir:Coding.display [ fhir:value "1-based character counting" ] ] ]; fhir:MolecularSequence.relative.ordinalPosition [ fhir:value "2"^^xsd:integer ]; fhir:MolecularSequence.relative.sequenceRange [ fhir:Range.low [ fhir:Quantity.value [ fhir:value "3235"^^xsd:decimal ] ]; fhir:Range.high [ fhir:Quantity.value [ fhir:value "8367"^^xsd:decimal ] ] ]; fhir:MolecularSequence.relative.startingSequence [ fhir:MolecularSequence.relative.startingSequence.sequenceCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/nuccore" ]; fhir:Coding.code [ fhir:value "NM_005157.6" ] ] ]; fhir:MolecularSequence.relative.startingSequence.windowStart [ fhir:value "174"^^xsd:integer ]; fhir:MolecularSequence.relative.startingSequence.windowEnd [ fhir:value "5306"^^xsd:integer ] ] ]] . # - ontology header ------------------------------------------------------------ [a owl:Ontology; owl:imports fhir:fhir.ttl] . # -------------------------------------------------------------------------------------
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.