A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes
A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes
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DOI：
10.1086/497579
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发表时间：
2005-11-01
影响因子：
9.8
通讯作者：
Smith, NGC
中科院分区：
文献类型：
--
作者：
Fearnhead, P;Smith, NGC
我们引入了一种从群体遗传数据中检测重组热点的新方法。该方法基于（a）定义重组率如何随物理位置变化的（近似）惩罚可能性，以及（b）在可能的重组热点组上最大化该惩罚可能性。仿真结果表明，这是一种比现有方法更强大的热点检测方法。我们将该方法应用于非洲裔美国人和欧洲裔美国人群体中 89 个基因测序的数据。我们发现许多基因具有多个热点，并且一些热点显示出具有人群特异性的证据。我们的结果表明，热点在基因内随机定位，频率可能高达每 30 kb 一个。
We introduce a new method for detection of recombination hotspots from population genetic data. This method is based on (a) defining an (approximate) penalized likelihood for how recombination rate varies with physical position and (b) maximizing this penalized likelihood over possible sets of recombination hotspots. Simulation results suggest that this is a more powerful method for detection of hotspots than are existing methods. We apply the method to data from 89 genes sequenced in African American and European American populations. We find many genes with multiple hotspots, and some hotspots show evidence of being population-specific. Our results suggest that hotspots are randomly positioned within genes and could be as frequent as one per 30 kb.