Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28269903
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 AMIA+Annu+Symp+Proc
2016 ; 2016
(ä): 1060-1069
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
GT2RDF: Semantic Representation of Genetic Testing Data
#MMPMID28269903
Paul Rupa A
; Singh S
; Zhu Q
AMIA Annu Symp Proc
2016[]; 2016
(ä): 1060-1069
PMID28269903
show ga
Accelerated by the Human Genome Project, genetic testing has become an
increasingly integral component in diagnosis, treatment, management, and
prevention of numerous diseases and conditions. More than 480 laboratories
perform genetic tests for more than 4,600 rare and common medical conditions.
These tests can effectively help health professionals to determine or predict the
genetic conditions of their patients. However, physicians have not actively
incorporated such innovative genetic technology into their clinical practices
according to two national wide surveys commissioned by UnitedHealth Group. To
fill the gap of insufficient use of a large number of genetic tests, we generated
a single Resource Description Framework (RDF) resource, called GT2RDF (Genetic
Testing data to RDF) by integrating information about disease, gene, phenotype,
genetic test, and drug from multiple sources including Genetic Testing Registry
(GTR), Online Mendelian Inheritance in Man (OMIM), MedGen, Human Phenotype
Ontology (HPO), ClinVar, National Drug File Reference Terminology (NDF-RT).
Meanwhile, we manually annotated and extracted information from 200 randomly
selected GeneReviews chapters, and integrated into the GT2RDF. We performed two
case studies to demonstrate the usability of the GT2RDF. GT2RDF will serve as a
data foundation to support the design of a genetic testing recommendation system,
called iGenetics, which will ultimately facilitate the pace of precision medicine
by means of actively and effectively incorporating innovative genetic technology
in clinical settings. Abbreviations: GT2RDF: Genetic Testing data to RDF; SWT:
Semantic web technology; OWL: Ontology Web Language; RDF: Resource Description
Framework; SPARQL: SPARQL Protocol and RDF Query Language; GTR: Genetic Testing
Registry; OMIM: Online Mendelian Inheritance in Man; HPO: Human Phenotype
Ontology; NDF-RT: National Drug File Reference Terminology; UMLS: Unified Medical
Language System.
|*Databases, Genetic
[MESH]
|*Genetic Testing/statistics & numerical data
[MESH]