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Example MolecularSequence/example-pgx-2 (Turtle)
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Example of another single varaint on a reference MolecularSequence related to a haplotype observation in PGx example, which will form with the other haplotype data to be a diplotype observation.
@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 "example-pgx-2"] ; #
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=\"example-pgx-2\"> </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 "example-pgx-2" </p></div><p><b>type</b>: dna</p><p><b>subject</b>: <a href=\"patient-example.html\">Patient/example</a> "Peter CHALMERS"</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>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td><td><b>Orientation</b></td><td><b>Strand</b></td></tr><tr><td>*</td><td>NG_007726.3 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NG_007726.3)</span></td><td>55227970</td><td>55227980</td><td>sense</td><td>watson</td></tr></table><h3>Edits</h3><table class=\"grid\"><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ReplacementSequence</b></td><td><b>ReplacedSequence</b></td></tr><tr><td>*</td><td>55227978</td><td>55227979</td><td>G</td><td>T</td></tr></table></blockquote></div>"
] ; #
fhir:type [ fhir:v "dna"] ; #
fhir:subject [
fhir:reference [ fhir:v "Patient/example" ]
] ; #
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 "NG_007726.3" ]
] )
] ;
fhir:windowStart [ fhir:v "55227970"^^xsd:integer ] ;
fhir:windowEnd [ fhir:v "55227980"^^xsd:integer ] ;
fhir:orientation [ fhir:v "sense" ] ;
fhir:strand [ fhir:v "watson" ]
] ;
fhir:edit ( [
fhir:start [ fhir:v "55227978"^^xsd:integer ] ;
fhir:end [ fhir:v "55227979"^^xsd:integer ] ;
fhir:replacementSequence [ fhir:v "G" ] ;
fhir:replacedSequence [ fhir:v "T" ]
] )
] )] . #
# -------------------------------------------------------------------------------------
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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