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Title: Global diversity, population stratification, and selection of human copy-number variation
Contributor(s): Sudmant, Peter H (author); Mallick, Swapan (author); Jorde, Lynn B (author); Posukh, Olga L (author); Sahakyan, Hovhannes (author); Watkins, W Scott (author); Yepiskoposyan, Levon (author); Abdullah, M Syafiq (author); Bravi, Claudio M (author); Capelli, Cristian (author); Hervig, Tor (author); Wee, Joseph T S (author); Nelson, Bradley J (author); Tyler-Smith, Chris (author); van Driem, George (author); Romero, Irene Gallego (author); Jha, Aashish R (author); Karachanak-Yankova, Sena (author); Toncheva, Draga (author); Comas, David (author); Henn, Brenna (author); Kivisild, Toomas (author); Ruiz-Linares, Andres (author); Hormozdiari, Fereydoun (author); Sajantila, Antti (author); Metspalu, Ene (author); Parik, Juri (author); Villems, Richard (author); Starikovskaya, Elena B (author); Ayodo, George (author); Beall, Cynthia M (author); Di Rienzo, Anna (author); Hammer, Michael F (author); Khusainova, Rita (author); Krumm, Niklas (author); Khusnutdinova, Elza (author); Klitz, William (author); Winkler, Cheryl (author); Labuda, Damian (author); Metspalu, Mait (author); Tishkoff, Sarah A (author); Dryomov, Stanislav (author); Sukernik, Rem (author); Patterson, Nick (author); Reich, David (author); Huddleston, John (author); Eichler, Evan E (author); Coe, Bradley P (author); Baker, Carl (author); Nordenfelt, Susanne (author); Bamshad, Michael (author)
Publication Date: 2015
Open Access: Yes
DOI: 10.1126/science.aab3761Open Access Link
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Abstract: 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 human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
Publication Type: Journal Article
Source of Publication: Science, 349(6253), p. 1-9
Publisher: American Association for the Advancement of Science
Place of Publication: United States of America
ISSN: 0036-8075
Field of Research (FOR): 200206 Globalisation and Culture
Socio-Economic Outcome Codes: 950599 Understanding Past Societies not elsewhere classified
Peer Reviewed: Yes
HERDC Category Description: C1 Refereed Article in a Scholarly Journal
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