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Two parallel, terminal Pleistocene lineages gave rise to Californian, Central, and South American populations.
By Anders Bergström, Stephen J. Oppenheimer, Alexander J. Mentzer, Kathryn Auckland, Kathryn Robson, Robert Attenborough, Michael P. Alpers, George Koki, William Pomat, Peter Siba, Yali Xue, Manjinder S. Sandhu, Chris Tyler-Smith
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The population structure in Papua New Guinea reflects a Neolithic transition with high present-day genetic differentiation.
By Marc de Manuel, Martin Kuhlwilm, Peter Frandsen, Vitor C. Sousa, Tariq Desai, Javier Prado-Martinez, Jessica Hernandez-Rodriguez, Isabelle Dupanloup, Oscar Lao, Pille Hallast, Joshua M. Schmidt, José María Heredia-Genestar, Andrea Benazzo, Guido Barbujani, Benjamin M. Peter, Lukas F. K. Kuderna, Ferran Casals, Samuel Angedakin, Mimi Arandjelovic, Christophe Boesch, Hjalmar Kühl, Linda Vigilant, Kevin Langergraber, John Novembre, Marta Gut, Ivo Gut, Arcadi Navarro, Frands Carlsen, Aida M. Andrés, Hans. R. Siegismund, Aylwyn Scally, Laurent Excoffier, Chris Tyler-Smith, Sergi Castellano, Yali Xue, Christina Hvilsom, Tomas Marques-Bonet
Science : 477-481 Full AccessRestricted Access
Genome sequences reveal ancient interbreeding between chimpanzees and bonobos.
By Vagheesh M. Narasimhan, Karen A. Hunt, Dan Mason, Christopher L. Baker, Konrad J. Karczewski, Michael R. Barnes, Anthony H. Barnett, Chris Bates, Srikanth Bellary, Nicholas A. Bockett, Kristina Giorda, Christopher J. Griffiths, Harry Hemingway, Zhilong Jia, M. Ann Kelly, Hajrah A. Khawaja, Monkol Lek, Shane McCarthy, Rosie McEachan, Anne O’Donnell-Luria, Kenneth Paigen, Constantinos A. Parisinos, Eamonn Sheridan, Laura Southgate, Louise Tee, Mark Thomas, Yali Xue, Michael Schnall-Levin, Petko M. Petkov, Chris Tyler-Smith, Eamonn R. Maher, Richard C. Trembath, Daniel G. MacArthur, John Wright, Richard Durbin, David A. van Heel
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The total loss of protein-coding genes, even those with the potential to confer genetic diseases, can be tolerated.
By Peter H. Sudmant, Swapan Mallick, Bradley J. Nelson, Fereydoun Hormozdiari, Niklas Krumm, John Huddleston, Bradley P. Coe, Carl Baker, Susanne Nordenfelt, Michael Bamshad, Lynn B. Jorde, Olga L. Posukh, Hovhannes Sahakyan, W. Scott Watkins, Levon Yepiskoposyan, M. Syafiq Abdullah, Claudio M. Bravi, Cristian Capelli, Tor Hervig, Joseph T. S. Wee, Chris Tyler-Smith, George van Driem, Irene Gallego Romero, Aashish R. Jha, Sena Karachanak-Yankova, Draga Toncheva, David Comas, Brenna Henn, Toomas Kivisild, Andres Ruiz-Linares, Antti Sajantila, Ene Metspalu, Jüri Parik, Richard Villems, Elena B. Starikovskaya, George Ayodo, Cynthia M. Beall, Anna Di Rienzo, Michael F. Hammer, Rita Khusainova, Elza Khusnutdinova, William Klitz, Cheryl Winkler, Damian Labuda, Mait Metspalu, Sarah A. Tishkoff, Stanislav Dryomov, Rem Sukernik, Nick Patterson, David Reich, Evan E. Eichler
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Copy-number variation reveals how selection affects the human genome across the globe.
By Maanasa Raghavan, Matthias Steinrücken, Kelley Harris, Stephan Schiffels, Simon Rasmussen, Michael DeGiorgio, Anders Albrechtsen, Cristina Valdiosera, María C. Ávila-Arcos, Anna-Sapfo Malaspinas, Anders Eriksson, Ida Moltke, Mait Metspalu, Julian R. Homburger, Jeff Wall, Omar E. Cornejo, J. Víctor Moreno-Mayar, Thorfinn S. Korneliussen, Tracey Pierre, Morten Rasmussen, Paula F. Campos, Peter de Barros Damgaard, Morten E. Allentoft, John Lindo, Ene Metspalu, Ricardo Rodríguez-Varela, Josefina Mansilla, Celeste Henrickson, Andaine Seguin-Orlando, Helena Malmström, Thomas Stafford Jr., Suyash S. Shringarpure, Andrés Moreno-Estrada, Monika Karmin, Kristiina Tambets, Anders Bergström, Yali Xue, Vera Warmuth, Andrew D. Friend, Joy Singarayer, Paul Valdes, Francois Balloux, Ilán Leboreiro, Jose Luis Vera, Hector Rangel-Villalobos, Davide Pettener, Donata Luiselli, Loren G. Davis, Evelyne Heyer, Christoph P. E. Zollikofer, Marcia S. Ponce de León, Colin I. Smith, Vaughan Grimes, Kelly-Anne Pike, Michael Deal, Benjamin T. Fuller, Bernardo Arriaza, Vivien Standen, Maria F. Luz, Francois Ricaut, Niede Guidon, Ludmila Osipova, Mikhail I. Voevoda, Olga L. Posukh, Oleg Balanovsky, Maria Lavryashina, Yuri Bogunov, Elza Khusnutdinova, Marina Gubina, Elena Balanovska, Sardana Fedorova, Sergey Litvinov, Boris Malyarchuk, Miroslava Derenko, M. J. Mosher, David Archer, Jerome Cybulski, Barbara Petzelt, Joycelynn Mitchell, Rosita Worl, Paul J. Norman, Peter Parham, Brian M. Kemp, Toomas Kivisild, Chris Tyler-Smith, Manjinder S. Sandhu, Michael Crawford, Richard Villems, David Glenn Smith, Michael R. Waters, Ted Goebel, John R. Johnson, Ripan S. Malhi, Mattias Jakobsson, David J. Meltzer, Andrea Manica, Richard Durbin, Carlos D. Bustamante, Yun S. Song, Rasmus Nielsen, Eske Willerslev
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Genetic variation within ancient and extant Native American populations informs on their migration into the Americas.
By Yali Xue, Javier Prado-Martinez, Peter H. Sudmant, Vagheesh Narasimhan, Qasim Ayub, Michal Szpak, Peter Frandsen, Yuan Chen, Bryndis Yngvadottir, David N. Cooper, Marc de Manuel, Jessica Hernandez-Rodriguez, Irene Lobon, Hans R. Siegismund, Luca Pagani, Michael A. Quail, Christina Hvilsom, Antoine Mudakikwa, Evan E. Eichler, Michael R. Cranfield, Tomas Marques-Bonet, Chris Tyler-Smith, Aylwyn Scally
Science : 242-245 Full AccessRestricted Access
Inbreeding in mountain gorillas increases the threat from disease and environmental change but has purged deleterious mutations.
By Ekta Khurana, Yao Fu, Vincenza Colonna, Xinmeng Jasmine Mu, Hyun Min Kang, Tuuli Lappalainen, Andrea Sboner, Lucas Lochovsky, Jieming Chen, Arif Harmanci, Jishnu Das, Alexej Abyzov, Suganthi Balasubramanian, Kathryn Beal, Dimple Chakravarty, Daniel Challis, Yuan Chen, Declan Clarke, Laura Clarke, Fiona Cunningham, Uday S. Evani, Paul Flicek, Robert Fragoza, Erik Garrison, Richard Gibbs, Zeynep H. Gümüş, Javier Herrero, Naoki Kitabayashi, Yong Kong, Kasper Lage, Vaja Liluashvili, Steven M. Lipkin, Daniel G. MacArthur, Gabor Marth, Donna Muzny, Tune H. Pers, Graham R. S. Ritchie, Jeffrey A. Rosenfeld, Cristina Sisu, Xiaomu Wei, Michael Wilson, Yali Xue, Fuli Yu, 1000 Genomes Project Consortium, Emmanouil T. Dermitzakis, Haiyuan Yu, Mark A. Rubin, Chris Tyler-Smith, Mark Gerstein
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Regions under strong selection in the human genome identify noncoding regulatory elements with possible roles in disease.
By Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris, Klaudia Walter, Luke Jostins, Lukas Habegger, Joseph K. Pickrell, Stephen B. Montgomery, Cornelis A. Albers, Zhengdong D. Zhang, Donald F. Conrad, Gerton Lunter, Hancheng Zheng, Qasim Ayub, Mark A. DePristo, Eric Banks, Min Hu, Robert E. Handsaker, Jeffrey A. Rosenfeld, Menachem Fromer, Mike Jin, Xinmeng Jasmine Mu, Ekta Khurana, Kai Ye, Mike Kay, Gary Ian Saunders, Marie-Marthe Suner, Toby Hunt, If H. A. Barnes, Clara Amid, Denise R. Carvalho-Silva, Alexandra H. Bignell, Catherine Snow, Bryndis Yngvadottir, Suzannah Bumpstead, David N. Cooper, Yali Xue, Irene Gallego Romero, 1000 Genomes Project Consortium, Jun Wang, Yingrui Li, Richard A. Gibbs, Steven A. McCarroll, Emmanouil T. Dermitzakis, Jonathan K. Pritchard, Jeffrey C. Barrett, Jennifer Harrow, Matthew E. Hurles, Mark B. Gerstein, Chris Tyler-Smith
Science : 823-828 Full AccessRestricted Access
Validation of predicted nonfunctional alleles in the human genome affects the medical interpretation of genomic analyses.