@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_head
{
this:
np:hasAssertion
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_assertion
;
np:hasProvenance
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_provenance
;
np:hasPublicationInfo
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_assertion
a
np:Assertion
.
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_provenance
a
np:Provenance
.
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_assertion
{
miriam-gene:1559
a
ncit:C16612
.
lld:C0019080
a
ncit:C7057
.
dgn-gda:DGN6b5bcd487fa3b6e59097ea195cbe7a6f
sio:SIO_000628
miriam-gene:1559
,
lld:C0019080
;
a
sio:SIO_001122
.
}
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_provenance
{
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_assertion
dcterms:description
"[The most important gaps identified are: which variants should be included in a testing panel, lack of data from external proficiency testing, lack of validated dosing algorithm incorporating genetic and nongenetic factors, evidence of clinical utility, reliable economic analyses, and methods to address several ethical, legal, and social implications issues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:18281915
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP76412.RAnlFjsGbsFhdhM07qPpvrTpbDfcN_xDb1okEtCHVZnfs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:37+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}