DiagnosticsPublish-box (todo)
| Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: No defined compartments |
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Simple Sequence example 1
@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
<http://hl7.org/fhir/MolecularDefinition/example-sequence1> a fhir:MolecularDefinition ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "example-sequence1"] ; #
fhir:moleculeType [
fhir:coding ( [
fhir:system [ fhir:v "http://hl7.org/fhir/sequence-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "dna" ] ;
fhir:display [ fhir:v "DNA Sequence" ]
] )
] ; #
fhir:representation ( [
fhir:literal [
fhir:value [ fhir:v "ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA" ]
] ;
fhir:resolvable [
fhir:link <http://hl7.org/fhir/DocumentReference/example-genomicFile-mw7162561> ;
fhir:reference [ fhir:v "DocumentReference/example-genomicFile-mw7162561" ]
] ;
fhir:extracted [
fhir:startingMolecule [
fhir:link <http://hl7.org/fhir/MolecularDefinition/example-starting-sequence-2b-extracted> ;
fhir:reference [ fhir:v "MolecularDefinition/example-starting-sequence-2b-extracted" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Starting Sequence Resource: ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGAGCCTGTACAGACAGTT AATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA" ]
] ;
fhir:coordinateInterval [
fhir:coordinateSystem [
fhir:system [
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:text [ fhir:v "0-based interval counting" ]
]
]
] ;
fhir:reverseComplement [ fhir:v false ]
] ;
fhir:concatenated [
fhir:sequenceElement ( [
fhir:sequence [
fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence0-2b-concatenated> ;
fhir:reference [ fhir:v "MolecularDefinition/example-sequence0-2b-concatenated" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Sequence-of index 0-Resource for concatenated sequence example: ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG" ]
] ;
fhir:ordinalIndex [ fhir:v 0 ]
] [
fhir:sequence [
fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence1-2b-concatenated> ;
fhir:reference [ fhir:v "MolecularDefinition/example-sequence1-2b-concatenated" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Sequence-of index 1-Resource for concatenated sequence example: AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG" ]
] ;
fhir:ordinalIndex [ fhir:v 1 ]
] [
fhir:sequence [
fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence2-2b-concatenated> ;
fhir:reference [ fhir:v "MolecularDefinition/example-sequence2-2b-concatenated" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Sequence-of index 2-Resource for concatenated sequence example: TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA" ]
] ;
fhir:ordinalIndex [ fhir:v 2 ]
] )
] ;
fhir:relative [
fhir:startingMolecule [
fhir:link <http://hl7.org/fhir/MolecularDefinition/example-starting-sequence-2b-relative> ;
fhir:reference [ fhir:v "MolecularDefinition/example-starting-sequence-2b-relative" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Starting Sequence Resource" ]
] ;
fhir:edit ( [
fhir:coordinateInterval [
fhir:coordinateSystem [
fhir:system [
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:text [ fhir:v "0-based interval counting" ]
]
]
] ;
fhir:replacementMolecule [
fhir:link <http://hl7.org/fhir/MolecularDefinition/example-replacement-sequence> ;
fhir:reference [ fhir:v "MolecularDefinition/example-replacement-sequence" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Replacement Sequence Resource: ATGAA" ]
] ;
fhir:replacedMolecule [
fhir:link <http://hl7.org/fhir/MolecularDefinition/example-replaced-sequence> ;
fhir:reference [ fhir:v "MolecularDefinition/example-replaced-sequence" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Replaced Sequence Resource: CCCCC" ]
]
] )
]
] ) . #
<http://hl7.org/fhir/DocumentReference/example-genomicFile-mw7162561> a fhir:DocumentReference .
<http://hl7.org/fhir/MolecularDefinition/example-starting-sequence-2b-extracted> a fhir:MolecularDefinition .
<http://hl7.org/fhir/MolecularDefinition/example-sequence0-2b-concatenated> a fhir:MolecularDefinition .
<http://hl7.org/fhir/MolecularDefinition/example-sequence1-2b-concatenated> a fhir:MolecularDefinition .
<http://hl7.org/fhir/MolecularDefinition/example-sequence2-2b-concatenated> a fhir:MolecularDefinition .
<http://hl7.org/fhir/MolecularDefinition/example-starting-sequence-2b-relative> a fhir:MolecularDefinition .
<http://hl7.org/fhir/MolecularDefinition/example-replacement-sequence> a fhir:MolecularDefinition .
<http://hl7.org/fhir/MolecularDefinition/example-replaced-sequence> a fhir:MolecularDefinition .
# -------------------------------------------------------------------------------------
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.
FHIR ®© HL7.org 2011+. FHIR R6 hl7.fhir.core#6.0.0-ballot3 generated on Tue, Apr 1, 2025 12:25+1100.
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