A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection
A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection
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DOI：
10.1126/science.1183863
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发表时间：
2010-02-12
期刊：
影响因子：
56.9
通讯作者：
Sabeti, Pardis C.
中科院分区：
文献类型：
--
作者：
Grossman, Sharon R.;Shylakhter, Ilya;Sabeti, Pardis C.
人类基因组包含数百个区域，其遗传变异模式表明最近的积极自然选择，但对于大多数潜在的基因和有利的突变仍然未知。我们开发了一种方法，多信号复合（CMS），它结合了多个选择信号的测试，并将分辨率提高了100倍。通过将CMS应用于来自国际单倍型图的候选区域，我们将群体特异性选择信号定位于55个突变位点（中位数），鉴定出已知和新的致病变体。CMS不仅可以识别单个基因座，还可以识别进化选择的精确变体。
The human genome contains hundreds of regions whose patterns of genetic variation indicate recent positive natural selection, yet for most the underlying gene and the advantageous mutation remain unknown. We developed a method, composite of multiple signals (CMS), that combines tests for multiple signals of selection and increases resolution by up to 100-fold. By applying CMS to candidate regions from the International Haplotype Map, we localized population-specific selective signals to 55 kilobases (median), identifying known and novel causal variants. CMS can not just identify individual loci but implicates precise variants selected by evolution.