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有时隐藏但始终存在:遗传推断人口历史所依据的假设。

Sometimes hidden but always there: the assumptions underlying genetic inference of demographic histories.

机构信息

Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, UK.

出版信息

Philos Trans R Soc Lond B Biol Sci. 2021 Jan 18;376(1816):20190719. doi: 10.1098/rstb.2019.0719. Epub 2020 Nov 30.

Abstract

Demographic processes directly affect patterns of genetic variation within contemporary populations as well as future generations, allowing for demographic inference from patterns of both present-day and past genetic variation. Advances in laboratory procedures, sequencing and genotyping technologies in the past decades have resulted in massive increases in high-quality genome-wide genetic data from present-day populations and allowed retrieval of genetic data from archaeological material, also known as ancient DNA. This has resulted in an explosion of work exploring past changes in population size, structure, continuity and movement. However, as genetic processes are highly stochastic, patterns of genetic variation only indirectly reflect demographic histories. As a result, past demographic processes need to be reconstructed using an inferential approach. This usually involves comparing observed patterns of variation with model expectations from theoretical population genetics. A large number of approaches have been developed based on different population genetic models that each come with assumptions about the data and underlying demography. In this article I review some of the key models and assumptions underlying the most commonly used approaches for past demographic inference and their consequences for our ability to link the inferred demographic processes to the archaeological and climate records. This article is part of the theme issue 'Cross-disciplinary approaches to prehistoric demography'.

摘要

人口过程直接影响当代群体以及未来几代人的遗传变异模式,允许从当今和过去的遗传变异模式中进行人口推断。过去几十年中,实验室程序、测序和基因分型技术的进步,使得来自当代人群的高质量全基因组遗传数据大量增加,并允许从考古材料中提取遗传数据,也称为古 DNA。这导致了大量探索过去人口规模、结构、连续性和迁移变化的工作。然而,由于遗传过程具有高度随机性,遗传变异模式只能间接反映人口历史。因此,需要通过推理方法来重建过去的人口过程。这通常涉及将观察到的变异模式与理论种群遗传学的模型预期进行比较。已经开发了大量基于不同种群遗传模型的方法,这些方法都对数据和潜在人口统计学有假设。在本文中,我回顾了过去人口推断中最常用方法的一些关键模型和假设,以及它们对我们将推断出的人口过程与考古和气候记录联系起来的能力的影响。本文是主题为“史前人口学的跨学科方法”的一部分。

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