Human genetic admixture through the lens of population genomics.

Human genetic admixture through the lens of population genomics.
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通过群体基因组学的透镜研究人类遗传混合体。

DOI:
10.1098/rstb.2020.0410
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发表时间:
2022-06-06
影响因子:
6.3
通讯作者:
Goldberg, Amy
Goldberg, Amy
中科院分区:
生物学1区
文献类型:
--
作者:
Gopalan, Shyamalika;Smith, Samuel Pattillo;Korunes, Katharine;Hamid, Iman;Ramachandran, Sohini;Goldberg, Amy

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在过去的50年里,遗传学家在理解我们物种的进化历史如何产生人类遗传多样性的当前模式方面取得了很大的进步,Lewontin在他1972年的论文《人类多样性的表现》中经典地总结了这一点。在群体遗传学和统计遗传学中需要特别关注的一个进化过程是混合:两个或多个先前分离的源群体之间的基因流动,形成一个新的混合群体。混合过程将基于祖先的结构引入种群内和种群间的遗传变异模式,这反过来又影响人口统计学历史的推断,选择的遗传目标的识别和复杂性状的预测。在这篇综述中,我们概述了混合群体遗传学的一些挑战,包括应用方法的局限性设计的人口没有最近的混合研究混合人口。我们强调了最近的研究和方法学进展,旨在克服这些挑战,利用过去几十代中发生的混合物的基因组特征,以深入了解人类历史,自然选择和复杂的性状结构。这篇文章是主题问题的一部分,“庆祝Lewontin对人类多样性的分配50周年”。
Over the past 50 years, geneticists have made great strides in understanding how our species' evolutionary history gave rise to current patterns of human genetic diversity classically summarized by Lewontin in his 1972 paper, ‘The Apportionment of Human Diversity’. One evolutionary process that requires special attention in both population genetics and statistical genetics is admixture: gene flow between two or more previously separated source populations to form a new admixed population. The admixture process introduces ancestry-based structure into patterns of genetic variation within and between populations, which in turn influences the inference of demographic histories, identification of genetic targets of selection and prediction of complex traits. In this review, we outline some challenges for admixture population genetics, including limitations of applying methods designed for populations without recent admixture to the study of admixed populations. We highlight recent studies and methodological advances that aim to overcome such challenges, leveraging genomic signatures of admixture that occurred in the past tens of generations to gain insights into human history, natural selection and complex trait architecture. This article is part of the theme issue ‘Celebrating 50 years since Lewontin's apportionment of human diversity’.
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