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Identification of adaptive sites in modern humans utilizing evolutionary probability

Noah Peles (1,2); Alyssa Pivirotto (1,2); Sudhir Kumar, PhD (1,3); Jody Hey, PhD (1,2) (1) - Department of Biology, Temple University, Philadelphia, USA (2) - Center for Computational Genetics and Genomics, Temple University, Philadelphia, USA (3) - Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, USA

Poster # 45

Previous work has been done to identify adaptive regions or pathways of the human genome associated with the speciation of modern humans, however identifying the specific sites within genes or pathways has previously been difficult. To identify potentially adaptive sites, we use genomic primate data from Gorilla gorilla, Pan paniscus, Pan troglodytes, Pongo abelii, Pongo pygmaeus, archaic humans (Neanderthal and Denisovan), and Homo sapiens (1kGP). In a new approach, we utilize evolutionary probability to identify nonsynonymous sites in discordance between other primate species and modern humans. In doing so, we can identify specific sites where modern humans have fixed a low probability amino acid as candidate sites of adaptation hypothesize that these sites will cluster in regions previously identified as adaptive and in pathways previously associated with the evolution of modern humans such as those associated with neural development and musculoskeletal development. This analysis will broaden our understanding of adaptation in modern humans and allow insight into the effects of adaptive mutations on the human phenotype.

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