Please use this identifier to cite or link to this item:
https://hdl.handle.net/1959.11/20607
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.aab3761 | Handle Link: | https://hdl.handle.net/1959.11/20607 | Open Access Link: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568308 | 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 (AAAS) | Place of Publication: | United States of America | ISSN: | 1095-9203 0036-8075 |
Fields of Research (FoR) 2008: | 200206 Globalisation and Culture | Fields of Research (FoR) 2020: | 470210 Globalisation and culture | Socio-Economic Objective (SEO) 2008: | 950599 Understanding Past Societies not elsewhere classified | Socio-Economic Objective (SEO) 2020: | 130799 Understanding past societies not elsewhere classified | Peer Reviewed: | Yes | HERDC Category Description: | C1 Refereed Article in a Scholarly Journal |
---|---|
Appears in Collections: | Journal Article |
Files in This Item:
File | Description | Size | Format |
---|
SCOPUSTM
Citations
232
checked on Mar 9, 2024
Page view(s)
998
checked on Jun 11, 2023
Items in Research UNE are protected by copyright, with all rights reserved, unless otherwise indicated.