Building an Ontology of Phenotypes for Existing GWAS Studies

摘要

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.