Genomic analyses inform on migration events during the peopling of Eurasia

Abstract

Here we present the Estonian Biocentre human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into Diversity and Selection Sets (ED1-2; SI1:1.1-7). We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time. We find a genetic signature in present-day Papuans suggesting that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMH) Out-of-Africa (xOoA). Together with evidence from the Western Asian fossil record11, and admixture between AMHs and Neanderthals predating the main Eurasian expansion12, our results contribute to the mounting evidence for the presence of AMH out of Africa earlier than 75kya. We also screen for signals of positive or balancing selection. The paths taken by AMHs out of Africa (OoA) have been the subject of considerable debate over the past two decades. Fossil and archaeological evidence13,14, and craniometric studies15 of African and Asian populations, demonstrate that Homo sapiens was present