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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes.
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Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes.

机译:在完整的重测序数据集中询问变异的多个方面,以推断人口规模的变化。

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摘要

We present an expanded data set of 50 unlinked autosomal noncoding regions, resequenced in samples of Hausa from Cameroon, Italians, and Chinese. We use these data to make inferences about human demographic history by using a technique that combines multiple aspects of genetic data, including levels of polymorphism, the allele frequency spectrum, and linkage disequilibrium. We explore an extensive range of demographic parameters and demonstrate that our method of combining multiple aspects of the data results in a significant reduction of the compatible parameter space. In agreement with previous reports, we find that the Hausa data are compatible with demographic equilibrium as well as a set of recent population expansion models. In contrast to the Hausa, when multiple aspects of the data are considered jointly, the non-Africans depart from an equilibrium model of constant population size and are compatible with a range of simple bottleneck models, including a 50-90% reduction in effective population size occurring some time after the appearance of modern humans in Africa 160,000-120,000 years ago.
机译:我们提出了一个扩展的数据集,该数据集包含50个未链接的常染色体非编码区,这些数据在来自喀麦隆,意大利人和中国人的豪萨样品中重新排序。我们使用这些数据通过结合多种遗传数据的技术(包括多态水平,等位基因频谱和连锁不平衡)来推断人类的人口历史。我们探索了广泛的人口统计参数,并证明了我们结合数据多个方面的方法可导致兼容参数空间的显着减少。与以前的报告一致,我们发现豪萨数据与人口均衡以及一系列近期的人口膨胀模型兼容。与豪萨(Hausa)相比,当综合考虑数据的多个方面时,非非洲人会偏离恒定人口规模的均衡模型,并且与一系列简单的瓶颈模型兼容,包括有效人口减少50-90%在16万到12万年前非洲出现了现代人类之后的某个时期,这种现象就出现了。

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