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利用单倍型信息识别、确定和描述混合事件的有效方法。

An efficient method to identify, date, and describe admixture events using haplotype information.

机构信息

University College London Genetics Institute (UGI), Department of Genetics, Evolution and Environment, University College London, London, WC1E 6BT, United Kingdom.

National Biobank of Thailand, National Science and Technology Development Agency, Pathum Thani 12120, Thailand.

出版信息

Genome Res. 2022 Aug 25;32(8):1553-1564. doi: 10.1101/gr.275994.121.

Abstract

We present fastGLOBETROTTER, an efficient new haplotype-based technique to identify, date, and describe admixture events using genome-wide autosomal data. With simulations, we show how fastGLOBETROTTER reduces computation time by an order of magnitude relative to the related technique GLOBETROTTER without suffering loss of accuracy. We apply fastGLOBETROTTER to a cohort of more than 6000 Europeans from 10 countries, revealing previously unreported admixture signals. In particular, we infer multiple periods of admixture related to East Asian or Siberian-like sources, starting >2000 yr ago, in people living in countries north of the Baltic Sea. In contrast, we infer admixture related to West Asian, North African, and/or Southern European sources in populations south of the Baltic Sea, including admixture dated to ∼300-700 CE, overlapping the fall of the Roman Empire, in people from Belgium, France, and parts of Germany. Our new approach scales to analyzing hundreds to thousands of individuals from a putatively admixed population and, hence, is applicable to emerging large-scale cohorts of genetically homogeneous populations.

摘要

我们提出了 fastGLOBETROTTER,这是一种基于单倍型的高效新技术,可使用全基因组常染色体数据来识别、定年和描述混合事件。通过模拟,我们展示了 fastGLOBETROTTER 如何将计算时间相对于相关技术 GLOBETROTTER 减少一个数量级,而不会降低准确性。我们将 fastGLOBETROTTER 应用于来自 10 个国家的 6000 多名欧洲人的队列中,揭示了以前未报告的混合信号。特别是,我们推断出与东亚或西伯利亚来源有关的多个混合时期,始于 2000 多年前,发生在波罗的海以北国家的人群中。相比之下,我们推断出与西亚、北非和/或南欧来源有关的混合在波罗的海以南的人群中,包括可追溯到公元 300-700 年的混合,与罗马帝国的衰落重叠,发生在来自比利时、法国和德国部分地区的人群中。我们的新方法可扩展到分析来自假定混合人群的数百到数千个人,并因此适用于新兴的大规模遗传同质人群队列。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7714/9435750/d3119491e8c7/1553f01.jpg

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