Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation.

ABSTRACT: We conduct high coverage (>30×) whole-genome sequencing of 180 individuals from 12 indigenous African populations. We identify millions of unreported variants, many predicted to be functionally important. We observe that the ancestors of southern African San and central African rainforest hunter-gatherers (RHG) diverged from other populations >200 kya and maintained a large effective population size. We observe evidence for ancient population structure in Africa and for multiple introgression events from "ghost" populations with highly diverged genetic lineages. Although currently geographically isolated, we observe evidence for gene flow between eastern and southern Khoesan-speaking hunter-gatherer populations lasting until ∼12 kya. We identify signatures of local adaptation for traits re

SUBMITTER: Fan S 

PROVIDER: S-EPMC10568978 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature