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Approved research

Building an Online Resource for Global Investigation and Validation of Trans-ethnic PheWAS Results

Principal Investigator: Dr Bingshan Li
Approved Research ID: 37539
Approval date: March 29th 2020

Lay summary

Electronic medical records (EMRs) combined with genetic data are a powerful resource for discovering relationships between genes and diseases, and can show which genes are shared between diseases. BioVU, the Vanderbilt DNA biobank, is a rich resource with nearly 250,000 DNA samples linked to EMRs. The Million Veterans Program (MVP) cohort contains EMRs linked to over 400,000 DNA samples. Our goal is to create an online web portal cataloguing all disease-gene relationships in UK Biobank, BioVU, and MVP. Our web portal will serve as a valuable, publicly available resource which may yield unique insights into the genetic factors underlying several diseases, and can help to validate findings from other resources. Our approach has the potential to improve understanding of several diseases including cancer, cardiovascular disease, metabolic dysfunction, neurological disease, and immune system disorders, and opens the door to personalized medicine approaches that may impact clinical diagnosis, treatment, and prevention strategies.