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Daniel R. Masys, MD: The Informatics of Biobanking and Genome-Phenome Correlation using Phenotypes Derived from Electronic Medical Records

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Abstract

Vanderbilt has created the nation’s largest biobank of DNA samples linked to de-identified data extracted from its electronic medical records (EMR) system. Informatics has been an essential component of this research infrastructure from its inception, and remains central to its effective use. This talk will review the design principles for the biobank and lessons learned in the extraction of phenotypes from the EMR for use in genotyping and genome-wide association studies.

Biography

Dr. Daniel R. Masys is Professor and Chair of the Department of the Department of Biomedical Informatics at Vanderbilt University School of Medicine. Dr. Masys is an honors graduate of Princeton University and the Ohio State University College of Medicine. He completed postgraduate training in Internal Medicine, Hematology and Medical Oncology at the University of California, San Diego, and the Naval Regional Medical Center, San Diego. Prior to joining Vanderbilt, Dr. Masys was director of biomedical informatics and professor of medicine at the University of California, San Diego. He also previously served as director of the Lister Hill National Center for Biomedical Communications, which is a research and development division of the National Library of Medicine.

Dr. Masys’ research interests span a number of areas of informatics, including genome-phenome correlation using electronic medical records data, the pooling and meta-analysis of HIV epidemiology data from multilingual international sources, creation of tools for clinical and translational research, and design and implementation of patient portals. Dr. Masys is an elected member of the Institute of Medicine, National Academy of Sciences. He is a Fellow of the American College of Physicians, and a Fellow of the American College of Medical Informatics. He was a founding associate editor of the Journal of the American Medical Informatics Association, and has received numerous awards including the NIH Director’s Award and the US Surgeon General’s Exemplary Service Medal.