03-31-2024, 02:53 PM
A geographic history of human genetic ancestry
Michael C Grundler, Jonathan Terhorst, Gideon S Bradburd
doi: https://doi.org/10.1101/2024.03.27.586858
https://www.biorxiv.org/content/10.1101/...7.586858v1
Abstract
Describing the distribution of genetic variation across individuals is a fundamental goal of population genetics. In humans, traditional approaches for describing population genetic variation often rely on discrete genetic ancestry labels, which, despite their utility, can obscure the complex, multifaceted nature of human genetic history. These labels risk oversimplifying ancestry by ignoring its temporal depth and geographic continuity, and may therefore conflate notions of race, ethnicity, geography, and genetic ancestry. Here, we present a method that capitalizes on the rich genealogical information encoded in genomic tree sequences to infer the geographic locations of the shared ancestors of a sample of sequenced individuals. We use this method to infer the geographic history of genetic ancestry of a set of human genomes sampled from Europe, Asia, and Africa, accurately recovering major population movements on those continents. Our findings demonstrate the importance of defining the spatial-temporal context of genetic ancestry to describing human genetic variation and caution against the oversimplified interpretations of genetic data prevalent in contemporary discussions of race and ancestry.
Michael C Grundler, Jonathan Terhorst, Gideon S Bradburd
doi: https://doi.org/10.1101/2024.03.27.586858
https://www.biorxiv.org/content/10.1101/...7.586858v1
Abstract
Describing the distribution of genetic variation across individuals is a fundamental goal of population genetics. In humans, traditional approaches for describing population genetic variation often rely on discrete genetic ancestry labels, which, despite their utility, can obscure the complex, multifaceted nature of human genetic history. These labels risk oversimplifying ancestry by ignoring its temporal depth and geographic continuity, and may therefore conflate notions of race, ethnicity, geography, and genetic ancestry. Here, we present a method that capitalizes on the rich genealogical information encoded in genomic tree sequences to infer the geographic locations of the shared ancestors of a sample of sequenced individuals. We use this method to infer the geographic history of genetic ancestry of a set of human genomes sampled from Europe, Asia, and Africa, accurately recovering major population movements on those continents. Our findings demonstrate the importance of defining the spatial-temporal context of genetic ancestry to describing human genetic variation and caution against the oversimplified interpretations of genetic data prevalent in contemporary discussions of race and ancestry.