A Study on Studies: Exploring the Metadata Associated with dbGaP Studies

摘要

The database of Genotypes and Phenotypes (dbGaP) was developed by the National Heart Lung, and Blood Institute (NHLBI) to archive genome-wide association studies (GWAS) data. As of July 17th 2012, dbGaP contained 305 top-level studies. The metadata for each study (available from the dbGaP website) are organized into distinct sections, including a study description, inclusion/exclusion criteria, policies for authorized access requests, MeSH terms, PubMed identifiers, study histories, and the names of principal and co-investigators. We here tabulate the salient characteristics of dbGaP metadata as part of the Phenotype Discoverer (PhD) project, a research project at the University of California San Diego Division of Biomedical Informatics which aims to enhance the """"searchability"""" of the current dbGaP website through the alignment of phenotypes to a standard information model. In particular, we are interested in using the extracted metadata PubMed identifiers, principal investigator names, associated journal names, etc. as input to a statistical text