PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
Denny JC, Ritchie MD, Basford M, Pulley J, Bastarache L, Brown-Gentry K, Wang D, Masys DR, Roden DM, Crawford DC. PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics. 2010 Mar 24. [Epub ahead of print]
Date Published: Wed, 03/24/2010
PheWAS - phenome-wide association studies
April 15, 2015
Methods to identify gene-disease associations primarily rely on clinical trials or observational cohorts and, more recently, Electronic Medical Record-linked DNA Biobanks. At Vanderbilt, we have used an EMR-linked DNA biobank called BioVU to derive case and controls populations using data within the EMR to define clinical phenotypes. Genetic data for these EMR-linked association studies are redeposited into BioVU for future EMR-linked studies. This has opened the possibility of "reverse GWAS" or "Phenome-wide association studies" (PheWAS).&n