Abstract：
Although it is well known that the ancestors of modern humans and Neanderthals admixed, the effects of gene flow on the Neanderthal genome are not well understood. We develop methods to estimate the amount of human-introgressed sequences in Neanderthals and apply it to whole-genome sequence data from 2000 modern humans and three Neanderthals. We estimate that Neanderthals have 2.5 to 3.7% human ancestry, and we leverage human-introgressed sequences in Neanderthals to revise estimates of Neanderthal ancestry in modern humans, show that Neanderthal population sizes were significantly smaller than previously estimated, and identify two distinct waves of modern human gene flow into Neanderthals. Our data provide insights into the genetic legacy of recurrent gene flow between modern humans and Neanderthals.
摘要：
尽管众所周知，现代人的祖先和尼安德特人混合在一起，基因流动对尼安德特人基因组的影响尚不清楚。我们开发了估算尼安德特人中人类渗入序列数量的方法，并将其应用于2000年现代人和三个尼安德特人的全基因组序列数据。我们估计尼安德特人有2.5%到3.7%的人类祖先，我们利用尼安德特人的人类渗入序列来修正现代人对尼安德特人祖先的估计，表明尼安德特人的人口规模明显小于先前的估计，并识别出两种不同的现代人类基因流进入尼安德特人。我们的数据提供了对现代人和尼安德特人之间反复基因流动的遗传遗产的见解。
