Article
Global diversity, population stratification, and selection of human copy-number variation.
Science (New York, N.Y.) - 11 Sept 2015
Sudmant Peter H, Mallick Swapan, Nelson Bradley J, Hormozdiari Fereydoun, Krumm Niklas, Huddleston John, Coe Bradley P, Baker Carl, Nordenfelt Susanne, Bamshad Michael, Jorde Lynn B, Posukh Olga L, Sahakyan Hovhannes, Watkins W Scott, Yepiskoposyan Levon, Abdullah M Syafiq, Bravi Claudio M, Capelli Cristian, Hervig Tor, Wee Joseph T S, Tyler-Smith Chris, van Driem George, Romero Irene Gallego, Jha Aashish R, Karachanak-Yankova Sena, Toncheva Draga, Comas David, Henn Brenna, Kivisild Toomas, Ruiz-Linares Andres, Sajantila Antti, Metspalu Ene, Parik Jüri, Villems Richard, Starikovskaya Elena B, Ayodo George, Beall Cynthia M, Di Rienzo Anna, Hammer Michael F, Khusainova Rita, Khusnutdinova Elza, Klitz William, Winkler Cheryl, Labuda Damian, Metspalu Mait, Tishkoff Sarah A, Dryomov Stanislav, Sukernik Rem, Patterson Nick, Reich David, Eichler Evan E
Abstract excerpt
In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral...
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