The Estonian Biocentre Human Genome Diversity Panel (EGDP). EGDP

Previous human genetic studies, based on sampling small numbers of populations, have supported a recent out-of-Africa dispersal model with minor additional input from archaic humans. Here, we present a novel dataset of 377 (two additional genomes are accessible through EGA through managed access program) high-coverage human genomes from 125 populations worldwide. The combination of high spatial and genomic coverage enabled us to refine current knowledge of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size. The examined Papuan genomes (hereafter taken as representative of the broader Sahul region) show an excess of haplotype sharing with Africans. This is compatible with traces of an early and otherwise extinct non-African lineage in the Papuan genome, evidence of which was so far only available in the Western Asian fossil record. Our tests of positive and balancing selection highlight a number of new metabolism- and immunity-related loci as candidates for local adaptation.

既往基于少量人群采样的人类遗传学研究，均支持近期走出非洲的扩散模型，并伴有少量古人类的基因输入。本研究发布了一套全新的数据集，包含来自全球125个人群的377份高覆盖度人类基因组（另有2份基因组可通过欧洲基因组档案（European Genome Archive，EGA）的受控访问计划获取）。高空间覆盖度与高基因组覆盖度的结合，使得我们得以细化当前对各大洲范围内杂合性模式、长距离与短距离基因流、古人类基因渐渗以及有效种群规模变化的认知。本次研究中的巴布亚基因组（下文将其作为更广泛萨胡尔区域的代表）与非洲人群存在过量的单倍型共享现象。这一现象与巴布亚基因组中存在早期已灭绝的非非洲血统的痕迹相符，而此前这类证据仅见于西亚化石记录中。我们针对正选择与平衡选择的检测，筛选出多个与代谢和免疫相关的全新基因座，可作为局部适应性的候选位点。