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
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;
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
DOI :
10.1109/HISB.2012.36
