PheWAS - phenome-wide association studies
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).