DocumentCode
2398720
Title
Building an Ontology of Phenotypes for Existing GWAS Studies
Author
Alipanah, Neda ; Kim, Hyeoneuoi ; Ohno-Machado, Lucila
Author_Institution
Dept. of Med., Univ. of California, San Diego, La Jolla, CA, USA
fYear
2012
fDate
27-28 Sept. 2012
Firstpage
111
Lastpage
111
Abstract
The database of Genotypes and Phenotypes (dbGaP) is archiving the results of different Genome Wide Association Studies (GWAS). dbGaP has a multitude of phenotype variables, but they are not harmonized across studies. Unfortunately, dbGaP lacks semantic relations among its variables. This prevents efficient information retrieval and accurate searches to find studies that contain common phenotypes. Our goal is to standardize dbGaP information to allow accurate, reusable and quick retrieval of information.
Keywords
biology computing; genomics; information retrieval; information retrieval systems; ontologies (artificial intelligence); GWAS; Genome Wide Association Studies; database of genotypes and phenotypes; information retrieval; information reusability; ontology; phenotype variables; semantic relations; standardize dbGaP information; Clustering algorithms; Conferences; Medical services; Ontologies; Semantics; Systems biology; Unified modeling language;
fLanguage
English
Publisher
ieee
Conference_Titel
Healthcare Informatics, Imaging and Systems Biology (HISB), 2012 IEEE Second International Conference on
Conference_Location
San Diego, CA
Print_ISBN
978-1-4673-4803-4
Type
conf
DOI
10.1109/HISB.2012.36
Filename
6366205
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