A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection

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Science  07 Jan 2010:
DOI: 10.1126/science.1183863

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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. Applying CMS to candidate regions from the International Haplotype Map, we localized population-specific selective signals to 55 kb (median), identifying known and novel causal variants. CMS can identify not just individual loci but implicates precise variants selected by evolution.