Methods for characterizing geographic structure in human genetic variation


Thu Mar 9th 10:00am to 11:00am PST


John Novembre

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Population structure is a fundamental feature of genetic data that has importance for addressing questions in evolutionary biology, conservation genetics, and trait mapping. In humans, population structure 1) gives perspective on human origins and history, 2) sheds light on evolutionary processes that have shaped human adaptation and disease, and 3) must be understood for effectively carrying out global medical genetics and personalized medicine. Techniques for elucidating population structure rely heavily on a suite of statistical methods with various tradeoffs. In this talk, I will review several important models and methods for studying population structure, with a special focus on challenges for studying spatially distributed data. In particular, I will present on a novel method for visualizing patterns of genetic diversity in a sample, a novel browser for visualizing allele frequency patterns, a simple new approach for providing a variant-level annotation that signifies its geographic distribution, and some simple visualizations that use these signifiers to convey typical geographic patterns found among a set of variants.  


John Novembre received a B.A. (2000) from Colorado College and a Ph.D. (2006) from the University of California at Berkeley. Prior to joining the faculty of the University of Chicago, where he is currently an associate professor in the Department of Human Genetics, he was affiliated with the University of California at Los Angeles (2008–2013) and was a National Science Foundation postdoctoral fellow in bioinformatics at the University of Chicago (2006–2008). His articles have appeared in such journals as Science, Nature, Nature Genetics, the American Journal of Human Genetics, and Bioinformatics, among others.


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