@article {308460, title = {Global diversity, population stratification, and selection of human copy-number variation.}, journal = {Science}, volume = {349}, year = {2015}, note = {http://www.sciencemag.org/content/early/2015/08/05/science.aab3761.abstract?sid=03d8af7a-c793-49f2-a565-06c605b1a605}, month = {2015 Sep 11}, pages = {aab3761}, 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.

}, keywords = {African Continental Ancestry Group, Animals, DNA Copy Number Variations, Evolution, Molecular, Gene Duplication, Genome, Human, Hominidae, Humans, Oceanic Ancestry Group, Phylogeny, Polymorphism, Single Nucleotide, Population, Selection, Genetic, Sequence Deletion}, issn = {1095-9203}, doi = {10.1126/science.aab3761}, url = {http://www.ncbi.nlm.nih.gov/pubmed/26249230}, author = {Sudmant, Peter H and Mallick, Swapan and Nelson, Bradley J and Hormozdiari, Fereydoun and Krumm, Niklas and Huddleston, John and Coe, Bradley P and Baker, Carl and Nordenfelt, Susanne and Bamshad, Michael and Jorde, Lynn B and Posukh, Olga L and Sahakyan, Hovhannes and Watkins, W Scott and Yepiskoposyan, Levon and Abdullah, M Syafiq and Bravi, Claudio M and Capelli, Cristian and Hervig, Tor and Wee, Joseph T S and Tyler-Smith, Chris and van Driem, George and Romero, Irene Gallego and Jha, Aashish R and Karachanak-Yankova, Sena and Toncheva, Draga and Comas, David and Henn, Brenna and Kivisild, Toomas and Ruiz-Linares, Andres and Sajantila, Antti and Metspalu, Ene and Parik, J{\"u}ri and Villems, Richard and Starikovskaya, Elena B and Ayodo, George and Beall, Cynthia M and Di Rienzo, Anna and Hammer, Michael F and Khusainova, Rita and Khusnutdinova, Elza and Klitz, William and Winkler, Cheryl and Labuda, Damian and Metspalu, Mait and Tishkoff, Sarah A and Dryomov, Stanislav and Sukernik, Rem and Patterson, Nick and Reich, David and Eichler, Evan E} }