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Demography, recombination hotspot intensity, and the block structure of linkage disequilibrium

机译:人口统计学,重组热点强度和连锁不平衡的嵌段结构

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Background: Effective gene mapping based on genetic association data will require detailed knowledge of patterns of linkage disequilibrium (LD) in human populations. It has been recently suggested that linkage disequilibrium in humans may be organized in a block-like structure, with islands of high LD separated by regions of rapid breakdown of LD due to recombination hotspots [1-3]. The experimental data to date, however, are limited, and fundamental questions remain about the implications of recombination rate heterogeneity. Here, we use computer simulations to evaluate how such heterogeneity influences patterns of LD, and we develop formal criteria to assess whether the patterns are functionally block like in the context of association mapping.
机译:背景:基于遗传关联数据的有效基因定位将需要详细了解人类连锁不平衡(LD)模式。最近有人提出,人体内的连锁不平衡可能以块状结构组织,由于重组热点,高LD的岛被LD快速分解的区域隔开[1-3]。然而,迄今为止的实验数据是有限的,关于重组率异质性的影响仍然存在基本问题。在这里,我们使用计算机模拟来评估这种异质性如何影响LD的模式,并且我们开发出正式的标准来评估这些模式是否在功能上受阻(例如在关联映射的情况下)。

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