Global diversity, population stratification and selection of human copy number variation

Sudmant, Peter H.; Mallick, Swapan; Nelson, Bradley J.; Hormozdiari, Fereydoun; Krumm, Niklas; Huddleston, John; Coe, Bradley P.; Baker, Carl; Nordenfeldt, Susanne; Bamshad, Michael; Jorde, Lynn B.; Posukh, Olga L.; Sahakyan, Hovhannes; Watkins, W. Scott; Yepiskoposyan, Levon; Abdullah, M. Syafiq; Bravi, Claudio M.; Capelli, Christian; Hervig, Tor; Wee, Joseph T.S.; ... (2015). Global diversity, population stratification and selection of human copy number variation. Science, 349(6253), aab3761. American Association for the Advancement of Science 10.1126/science.aab3761

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

06 Faculty of Humanities > Department of Linguistics and Literary Studies > Institute of Linguistics
06 Faculty of Humanities > Department of Linguistics and Literary Studies > Institute of Linguistics > Comparative Linguistics

UniBE Contributor:

van Driem, George

Subjects:

400 Language > 410 Linguistics

ISSN:

0036-8075

Publisher:

American Association for the Advancement of Science

Language:

English

Submitter:

Nicolas Schorer

Date Deposited:

09 Dec 2015 15:47

Last Modified:

21 Dec 2015 07:53

Publisher DOI:

10.1126/science.aab3761

BORIS DOI:

10.7892/boris.73605

URI:

https://boris.unibe.ch/id/eprint/73605

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