It is an opportune time to be engaged in the research and application of informatics in biomedicine. The increased use of electronic and personal health records and personal mobile devices is creating many opportunities at research academic medical centers. At the University of Washington, we are laying the ground work to build the informatics and information technology infrastructure to support research on personalized approaches, and we are beginning to see the early successes of these efforts. There are many challenges, for example, whole exome and whole genome sequencing is continuing to challenge researchers with a wealth of genetic variants of unknown disease effects. The genetic causes of penetrance and phenotypic expressivity often have no known molecular basis. In this presentation, I will discuss our support of data for research use within UW Medicine, our efforts to build new machine learning and data science approaches using clinical datasets, and our efforts to develop new methods to interpret human genome sequences. Further, we are leveraging the crowd by organizing and participating in community challenges (critical assessments) to build a better understanding of the types of approaches that perform well in genome interpretation and in what context. I will discuss our involvement in the critical assessment communities.
Professor Mooney has spent his career as a researcher and group leader in biomedical informatics. He now leads research IT for UW Medicine and is leading efforts to support and building clinical informatic platforms as its first Chief Research Information Officer (CRIO) and as a professor in the Department of Biomedical Informatics and Medical Education at the University of Washington. Previous to his CRIO role, he was an Associate Professor and Director of Bioinformatics at the Buck Institute for Research on Aging. As an Assistant Professor, he was appointed in Medical and Molecular Genetics at Indiana University School of Medicine and was founder and director of the Indiana University School of Medicine Bioinformatics Core. In 1997, he received his B.S. with Distinction in Biochemistry and Molecular Biology from the University of Wisconsin at Madison. Then receiving a Ph.D. in 2001 at the University of California in San Francisco, and then an American Cancer Society John Peter Hoffman Fellowship at Stanford University.