Scientific Publications

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

Publication TypeJournal Article
AuthorsGrossman, SR, Shylakhter I., Karlsson EK, Byrne EH, Morales S., Frieden G., Hostetter E., Angelino E., Garber M., Zuk O., Lander E. S., Schaffner SF, and Sabeti PC
AbstractThe 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.
Year of Publication2010
JournalScience (New York, N.Y.)
Volume327
Issue5967
Pages883-6
Date Published (YYYY/MM/DD)2010/02/12
ISSN Number0036-8075
DOI10.1126/science.1183863
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/20056855?dopt=Abstract