多种信号的综合可区分正选择区域中的因果变异。
A composite of multiple signals distinguishes causal variants in regions of positive selection.
机构信息
Center for Systems Biology, Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
出版信息
Science. 2010 Feb 12;327(5967):883-6. doi: 10.1126/science.1183863. Epub 2010 Jan 7.
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.
人类基因组包含数百个区域,这些区域的遗传变异模式表明最近发生了正向自然选择,但对于大多数区域,其潜在基因和有利突变仍然未知。我们开发了一种名为综合多种信号(CMS)的方法,该方法结合了多种选择信号的测试,并将分辨率提高了 100 倍。通过将 CMS 应用于国际单体型图谱中的候选区域,我们将特定于群体的选择信号定位到 55 千碱基(中位数),确定了已知和新的因果变异。CMS 不仅可以识别单个基因座,还可以推断出进化选择的精确变异。