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JAMA Clinical Reviews

Phenome-Wide Association Studies

22 min15 november 2022

Phenome-wide association studies use large data sets to search for phenotypes associated with specific single-nucleotide variants, investigating whether specific genetic variations may be associated with multiple conditions and traits. In this podcast, JAMA Fishbein Fellow Revital Marcus, MD, discusses phenome-wide association studies with Dan M. Roden, MD, professor of medicine, pharmacology, and biomedical informatics at Vanderbilt University Medical Center, and Joshua C. Denny, MD, MS, chief executive officer of the National Institutes of Health's All of Us Research Program.

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