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利用全基因组关联研究(GWAS)复杂性状来检测人类自然选择的特征。

Leveraging GWAS for complex traits to detect signatures of natural selection in humans.

机构信息

Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia.

Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland 4072, Australia.

出版信息

Curr Opin Genet Dev. 2018 Dec;53:9-14. doi: 10.1016/j.gde.2018.05.012. Epub 2018 Jun 16.

DOI:10.1016/j.gde.2018.05.012
PMID:29913353
Abstract

Natural selection can shape the genetic architecture of complex traits. In human populations, signals of positive selection at genetic loci have been detected through a variety of genome-wide scanning approaches without the knowledge of how genes affect traits or fitness. In the past decade, genome-wide association studies (GWAS) have provided unprecedented insights into the genetic basis of quantitative variation in complex traits. Summary statistics generated from these GWAS have been shown to be an extraordinary data source that can be utilized to detect and quantify natural selection in the genetic architecture of complex traits. In this review, we focus on recent discoveries about selection on genetic variants associated with human complex traits based on GWAS-facilitated methods.

摘要

自然选择可以塑造复杂性状的遗传结构。在人类群体中,通过各种全基因组扫描方法,在不知道基因如何影响性状或适应性的情况下,已经检测到遗传位点的正选择信号。在过去的十年中,全基因组关联研究(GWAS)为复杂性状数量变异的遗传基础提供了前所未有的见解。这些 GWAS 产生的汇总统计数据已被证明是一种非凡的数据来源,可用于检测和量化复杂性状遗传结构中的自然选择。在这篇综述中,我们重点介绍了基于 GWAS 辅助方法发现的与人类复杂性状相关的遗传变异选择的最新发现。

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