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Genetic diagnosis SIO
pabloalarconm edited this page Jul 3, 2023
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@prefix : <http://purl.org/ejp-rd/cde/v020/example-rdf/> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix obo: <http://purl.obolibrary.org/obo/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
:process_ a obo:NCIT_C15709 ;
sio:SIO_000229 :variant_ .
:person_ a sio:SIO_000498 ;
sio:SIO_000228 :role_ .
:role_ a obo:OBI_0000093 ;
sio:SIO_000356 :process_ .
:variant_ a obo:VariO_0138;
rdfs:label "NG_007148.2:g.146889G>A" .
Mark's example
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix obo: <http://purl.obolibrary.org/obo/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix dbsnp: <http://identifiers.org/dbsnp:> .
@prefix hgnc: <https://identifiers.org/hgnc:> .
@prefix bioass: <http://www.bioassayontology.org/bao#> .
@prefix rdcmeta: <http://rdf.biosemantics.org/ontologies/rd-connect/> .
@prefix ex: <http://example.org/> .
ex:geneX
sio:has-role ex:generole ;
a obo:NCIT_C16612 .
ex:generole
sio:is-realized-in ex:geneticdiagnosticprocess ;
a sio:role, bioass:BAO_0003064 ;
rdfs:label "Target gene role" .
ex:geneticdiagnosticprocess
sio:has-output :variant_ ;
sio:start-date "2020-10-18T13:00:00"^^<http://www.w3.org/2001/XMLSchema#dateTime> ;
a obo:NCIT_C15709 ;
rdfs:label "genetic diagnostic process" .
:variant_ sio:SIO_000339 dbsnp:rs121909098 . # is specified by
ex:patientID
sio:denotes ex:patientrole ;
sio:has-value "123456"^^<http://www.w3.org/2001/XMLSchema#int> ;
a rdcmeta:Pseudonym, sio:identifier ;
rdfs:label "123456" .
ex:patientX
obo:RO_0002162 ex:patienttaxon ;
sio:has-role ex:patientrole ;
a sio:patient .
ex:patientrole
sio:is-realized-in ex:geneticdiagnosticprocess ;
a sio:patient-role, sio:role ;
rdfs:label "Patient role" .
ex:patienttaxon
a obo:NCBITaxon_9606 ;
rdfs:label "some taxon" .
#dbsnp:rs121909098
# a obo:SO_0000694, obo:VariO_0138 ;
# rdfs:label "rs121909098" .
obo:NCBITaxon_9606
rdfs:label "Homo sapiens" .
obo:NCIT_C15709
rdfs:label "Genetic Testing" .
obo:NCIT_C16612
rdfs:label "Gene" .
obo:NCIT_C48664
rdfs:label "Gene Identifier" .
obo:SO_0000694
rdfs:label "SNP" .
obo:VariO_0138
rdfs:label "Variant" .
rdcmeta:Pseudonym
rdfs:label "Pseudonym" .
sio:identifier
rdfs:label "identifier" .
sio:patient
rdfs:label "Patient" .
sio:patient-role
rdfs:label "Patient role" .
sio:role
rdfs:label "Role" .
bioass:BAO_0003064
rdfs:label "Target" .
<https://identifiers.org/hgnc:2928>
sio:denotes ex:generole ;
sio:has-value "HGNC 2928"@en ;
a obo:NCIT_C48664, sio:identifier ;
rdfs:label "HGNC:2928" .
PREFIX : <http://purl.org/ejp-rd/cde/v020/shex/>
PREFIX obo: <http://purl.obolibrary.org/obo/>
PREFIX sio: <http://semanticscience.org/resource/>
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#>
:processShape IRI {
a [obo:NCIT_C15709] ;
sio:SIO_000229 @:variantShape
}
:personShape IRI {
a [sio:SIO_000498] ;
sio:SIO_000228 @:roleShape
}
:roleShape IRI {
a [obo:OBI_0000093] ;
sio:SIO_000356 @:processShape
}
:variantShape IRI {
a [obo:VariO_0138] ;
rdfs:label xsd:string
}
This project is licensed under the CC0-1.0 License - see the LICENSE file for more details.
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Modules (v2.0.0)
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Patient personal information:
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Participation status:
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Medical history:
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Conditions and medical findings:
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Research availability and consent:
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Treatment-related interventions:
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Clinical trials:
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- Modules (v1.0.0) CURRENTLY DEPRECATED