英国牛津大学Simon R. Myers研究组开发了一种全基因组谱估计方法。2019年9月2日出版的《自然—遗传学》发表了这一成果。

他们开发了一种在估计分支长度、突变年龄、可变历史种群大小、以及允许数据错误的同时，可以估计扩展到> 10000个序列的方法。将其应用于1000个基因组工程单倍型，产生26个人群的联合谱系历史。所有群体都存在高度分化的血统，但非洲最常见。除了非洲以外，这些主要反映了与尼安德特人和杰尼索瓦人有关的群体的古老渐渗，而非洲的信号却反映了该大陆独有的未知事件。他们的方法允许比以前更有力的自然选择推论。他们还鉴定了强阳性选择下的多个方面的种群特征，包括毛发颜色、体重指数和血压在内的多等位基因等，发现在不同人群中这些特征都表现出多样性，并为定向选择提供了的强有力证据。

据介绍，对数千个人的全基因组谱系的认知将简化人类和其他物种的多数进化分析过程，但这些在计算上仍然是不可行的。

附：英文原文

Title: A method for genome-wide genealogy estimation for thousands of samples

Author: Leo Speidel, Marie Forest, Sinan Shi, Simon R. Myers

Issue&Volume: Volume 51 Issue 9

Abstract: Knowledge of genome-wide genealogies for thousands of individuals would simplify most evolutionary analyses for humans and other species, but has remained computationally infeasible. We have developed a method, Relate, scaling to >10,000 sequences while simultaneously estimating branch lengths, mutational ages and variable historical population sizes, as well as allowing for data errors. Application to 1,000 Genomes Project haplotypes produces joint genealogical histories for 26 human populations. Highly diverged lineages are present in all groups, but most frequent in Africa. Outside Africa, these mainly reflect ancient introgression from groups related to Neanderthals and Denisovans, while African signals instead reflect unknown events unique to that continent. Our approach allows more powerful inferences of natural selection than has previously been possible. We identify multiple regions under strong positive selection, and multi-allelic traits including hair color, body mass index and blood pressure, showing strong evidence of directional selection, varying among human groups.

DOI: 10.1038/s41588-019-0484-x

Source:https://www.nature.com/articles/s41588-019-0484-x