Building an ontology of phenotypes for existing GWAS studies


Conference Paper

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. © 2012 IEEE.

Full Text

Duke Authors

Cited Authors

  • Alipanah, N; Kim, H; Ohno-Machado, L

Published Date

  • December 1, 2012

Published In

  • Proceedings 2012 Ieee 2nd Conference on Healthcare Informatics, Imaging and Systems Biology, Hisb 2012

Start / End Page

  • 111 -

International Standard Book Number 13 (ISBN-13)

  • 9780769549217

Digital Object Identifier (DOI)

  • 10.1109/HISB.2012.36

Citation Source

  • Scopus