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Insights from rare variant genetic diversity in human populations

John Novem­bre, PhD, Asso­ciate Professor, Department of Ecol­ogy and Evo­lu­tion­ary Biology, University of Cal­i­for­nia, Los Ange­les   Web­site  |  Pub­li­ca­tions

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.