Abstract: The advent of high-throughput sequencing has enabled novel experiments of unprecedented scale. In this talk, I will present the results of sequencing 202 drug target genes in ~14,000 individuals. The scale of this sample allows us for the first time to measure how many variant positions exist in human populations in which the variant allele is at rare frequencies. The results emphasize how recent population growth and purifying selection have strongly impacted patterns of diversity in humans, and how rare variants are typically geographically restricted. These results have important implications for understanding what variation might underlie the heritable component of complex disease and are suggestive of a potentially non-trivial role for rare variants.
Bio: John Novembre is an Associate Professor in the Department of Ecology and Evolutionary Biology at UCLA. He earned his BA in Biochemistry at the Colorado College in 2000 and then a PhD in Integrative Biology with an emphasis on Computational and Genomics from the University of California-Berkeley in 2006. He has been named a Searle Scholar, an Alfred P. Sloan Research, and NSF Bioinformatics Postdoctoral Fellow. His main research interests are in population genetics and molecular evolution, with a special interest in human genetic variation and its history. His group specializes in computational biology, particularly methods development and genomic-scale data analysis. Recently his group has published high profile work on human population structure and the abundance of rare variants in humans.