From Genome-Wide Association Studies to Biological Insights Using Integrative Molecular Epidemiology - Dr. Kraft
March 5, 2020 | 11:00 AM – 12:00 PM
NCI Shady Grove TE 406 Rockville, Maryland
Peter Kraft, Ph.D., Professor of Epidemiology and Biostatistics, Harvard T.H. Chan School of Public Health
Genome-wide association studies (GWAS) have identified thousands of common genetic variants robustly associated with risk of cancer, yet the biological mechanisms underlying these associations remain largely unknown, in part because of confounding by local correlation among variants, and in part because most of these variants are located in non-coding regions with poorly-understood functionality. Methods that integrate GWAS results with auxiliary data can suggest biological hypotheses for further in silico, in vitro and in vivo studies. These auxiliary data include: emerging functional annotations; data on gene expression, epigenetic marks or intermediate biomarkers; and data on other traits, behaviors, and diseases. I will introduce several integrative methods (fine-mapping to identify individual causal variants, transcriptome-wide association studies, phenome-wide association studies, and mediation analyses), provide examples, and discuss their advantages and disadvantages.
Montserrat García-Closas, M.D., Dr. P.H.,
Deputy Director, Office of the Director,
Division of Cancer Epidemiology & Genetics, NCI
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