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Science DOI:10.1126/science.1183863

A composite of multiple signals distinguishes causal variants in regions of positive selection.

Publication TypeJournal Article
Year of Publication2010
AuthorsGrossman, SR, Shlyakhter, I, Shylakhter, I, Karlsson, EK, Byrne, EH, Morales, S, Frieden, G, Hostetter, E, Angelino, E, Garber, M, Zuk, O, Lander, ES, Schaffner, SF, Sabeti, PC
Date Published2010 Feb 12
KeywordsComputational Biology, DNA, Intergenic, Evolution, Molecular, Genetic Loci, Genetic Variation, Genome, Human, Haplotypes, Humans, Polymorphism, Genetic, Population Groups, Regulatory Sequences, Nucleic Acid, Selection, Genetic, Software

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.


Alternate JournalScience
PubMed ID20056855