Department of Biostatistics Seminar/Workshop Series

Exploring BioVU, many SNPs and phenotypes at a time

Jonathan Mosley, MD, PhD, Instructor of Medicine, Division of Clincial Pharmacology, Department of Medicine, Vanderbilt University

Data sets like Vanderbilt's BioVU resource, which link electronic health record (EHR) data to a DNA biobank, provide a unique opportunity to characterize how genetic variation modulates disease risk. The breadth of clinical phenotypes in these data sets also enables the identification of genetic mechanisms shared across diseases. This presentation will describe the application of analytic methods that model the global contributions of large numbers of common single nucleotide polymorphisms (SNPs) to EHR data to enable the creation of genetically informed disease taxonomies and biomarker discovery.