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A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans
ArticleAbstract: Male infertility is a prevalent condition, affecting 5-10% of men. So far, few genetic factors havePalabras claves:Autores:Arciero E., Grigorova M., Hallast P., Jobling M.A., Kibena L., Korrovits P., Laan M., Pomm K., Poolamets O., Punab M., Rodrigo Flores, Rootsi S., Rull K., Tyler-Smith C., Xue Y.Fuentes:scopusPunctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
ArticleAbstract: We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26 worldwide populatiPalabras claves:Autores:Adam Auton, Andrea Massaia, Ankit Malhotra, Anthony Marcketta, Ayub Q., Bustamante C.D., Charles Lee, Chengsheng Zhang, Daniel R. Zerbino, David Mittelman, Eliza Cerveira, Erik Garrison, Fengtang Yang, G. David Poznik, Gonçalo Abecasis, Graham R.S. Ritchie, Haojing Shao, Juan L. Rodriguez-Flores, Lachlan Coin, Laura Clarke, Mallory Romanovitch, Maria Cerezo, Melissa A. Wilson Sayres, Melissa Gymrek, Méndez F.L., Narechania A., Paul Flicek, Rob Desalle, Robert E. Handsaker, Ruby Banerjee, Sandra Louzada, Seva Kashin, Shane A. McCarthy, Steve McCarroll, Thomas F. Willems, Tomas W. Fitzgerald, Tyler-Smith C., Underhill P.A., Xiangqun Zheng-Bradley, Xue Y., Yaniv Erlich, Yuan ChenFuentes:scopusGenomic evidence for the Pleistocene and recent population history of Native Americans
ArticleAbstract: How and when the Americas were populated remains contentious. Using ancient and modern genome-wide dPalabras claves:Autores:Anders Albrechtsen, Anders Eriksson, Andrea Manica, Anna Sapfo Malaspinas, Ávila-Arcos M.C., Balanovska E., Balanovsky O., Balloux F., Barbara Petzelt, Benjamin T. Fuller, Bergström A., Bernardo Arriaza, Boris Malyarchuk, Brian M. Kemp, Bustamante C.D., Campos P.F., Celeste Henrickson, Cornejo O.E., David Archer, David Glenn Smith, David J. Meltzer, Davide Pettener, DeGiorgio M., Evelyne Heyer, Friend A.D., Helena Malmstöm, Ilán Leboreiro, J. Víctor Moreno-Mayar, Jakobsson M., Jeff Wall, Jerome Cybulski, John R. Johnson, Jose Luis Vera, Josefina Mansilla, Joy Singarayer, Joycelynn Mitchell, Julian R. Homburger, Karmin M., Kelley Harris, Kelly Anne Pike, Khusnutdinova E.K., Kivisild T., Lindo J., Litvinov S., Loren G. Davis, Ludmila Osipova, Luiselli D., M. J. Mosher, Maanasa Raghavan, Manjinder S. Sandhu, Marcia S. Ponce De León, Maria F. Luz, Maria Lavryashina, Marina Gubina, Matthias Steinrücken, Metspalu E., Metspalu M., Michael Crawford, Michael Deal, Michael R. Waters, Mikhail I. Voevoda, Miroslava Derenko, Moltke I., Moreno-Estrada A., Morten E. Allentoft, Niede Guidon, Olga L. Posukh, Paul J. Norman, Paul Valdes, Peter De Barros Damgaard, Peter Parham, Rangel-Villalobos H., Rasmus Nielsen, Rasmussen M., Rasmussen S., Ricardo Rodríguez-Varela, Ricaut F.X., Richard M. Durbin, Ripan S. Malhi, Rosita Worl, Sardana Fedorova, Schiffels S., Seguin-Orlando A., Smith C., Suyash Shringarpure, Tambets K., Ted Goebel, Thomas Stafford, Thorfinn S. Korneliussen, Tracey Pierre, Tyler-Smith C., Valdiosera C., Vaughan Grimes, Vera Warmuth, Villems R., Vivien Standen, Xue Y., Yun S. Song, Yuri Bogunov, Zollikofer C.Fuentes:scopusHuman genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences
ArticleAbstract: Background: Population differentiation has proved to be effective for identifying loci under geograpPalabras claves:Autores:A. Chakravarti, A. Kolb-Kokocinski, Adam Auton, Andrew G. Clark, Ayub Q., B. Wang, Bartha M. Knoppers, Bernd Timmermann, Bustamante C.D., C. Lee, Christie L. Kovar, David M. Altshuler, David R. Bentley, Deborah A. Nickerson, Elaine R. Mardis, Eric D. Green, Erik Garrison, Evan E. Eichler, Florian Mertes, G. A. McVean, G. Li, G. M. Weinstock, G. Wang, Gabor T. Marth, Gabriel S.B., Gibbs R.A., Gonçalo Abecasis, H. Dinh, H. Wu, Hans Lehrach, Hui Jiang, Hyun Min Kang, J. Burton, J. Li, J. Stalker, J. Wang, Jan O. Korbel, Jeanette P. Schmidt, Jeffrey G. Reid, Jiao Zhao, L. Lewis, Lander E., Laura Clarke, Li Z., Lisa D. Brooks, Lucinda A. Fulton, M. Pybus, M. Tang, M. Wang, M. Zhao, Marc Sultan, Marcus W. Albrecht, Marie Laure Yaspo, Mark A. DePristo, Matthew E. Hurles, Matthias Lienhard, Min Jian, Muzny D.M., N. Gupta, P. Danecek, Pagani L., Paul Flicek, Peter Donnelly, Pierre Luisi, R. Wu, Ralf Sudbrak, Rasko Leinonen, Richard E. Smith, Richard M. Durbin, Robert E. Handsaker, Robert S. Fulton, Russell Grocock, S. Balasubramaniam, S. Lee, S. Tai, Sean Humphray, Shane A. McCarthy, Stephen T. Sherry, T. M. Keane, Tatiana A. Borodina, Terena James, Tyler-Smith C., V. Colonna, Vyacheslav S. Amstislavskiy, W. Zhang, Wilson R.K., X. Fang, X. Guo, X. Jin, X. Ma, X. Zheng, Xiangqun Zheng-Bradley, Xiao Liu, Xue Y., Y. Li, Y. Lu, Y. Yin, Y. Zhou, Yuan Chen, Z. Su, Zoya KingsburyFuentes:scopusIntegrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
ArticleAbstract: A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide associatPalabras claves:Autores:A. Chakravarti, A. Kolb-Kokocinski, Adam Frankish, Adrian Tan, Alison J. Coffey, Alon Keinan, Andrea Maschio, Andy Rimmer, Angeliki Kerasidou, Anjali Gupta-Hinch, Aylwyn Scally, Ayub Q., Ben Blackburne, Bustamante C.D., Carlo Sidore, Chris Hartl, Christian Fuchsberger, Claire Churchhouse, Clark A.G., David M. Altshuler, David R. Bentley, Dionysia K. Xifara, Eleonora Porcu, Eric Banks, Evan E. Eichler, Fabio Busonero, Fiona Cunningham, Francisco M. De La Vega, Gabriel S.B., Gaurav Bhatia, Gerton Lunter, Gil A. McVeanh, Giulio Genovese, Gonçalo Abecasis, Goo Jun, Guillermo Del Angel, Heng Li, Huang N., Hyun Min Kang, J. Burton, J. Stalker, James C. Nemesh, Jennifer Harrow, Jeremiah Degenhardt, Jonathan Marchini, Juan L. Rodriguez-Flores, Kathryn Beal, Khalid Shakir, Klaudia Walter, Lander E., Laura Clarke, Lisa Murray, Luke Jostins, Mark A. DePristo, Mark Daly, Markus Bauer, Mary Kate Trost, Mathieson I., Matthew E. Hurles, Mauricio O. Carneiro, Michael Eberle, Michael Quail, Namrata Gupta, Olivier Delaneau, P. Danecek, Pardis C. Sabeti, Paul Anderson, Paul Flicek, Peter Donnelly, R. Keira Cheetham, Rasko Leinonen, Reich D., Richard E. Smith, Richard M. Durbin, Richard Shaw, Ridhi Tariyal, Robert E. Handsaker, Russell Grocock, Ryan Poplin, S. Balasubramaniam, S. Myers, Sarah J. Lindsay, Sean Humphray, Shane A. McCarthy, Sharon R. Grossman, Shervin Tabrizi, Stephen F. Schaffner, Steve McCarroll, T. M. Keane, Terena James, Thomas Blackwell, Tony Cox, Tyler S. Chris, V. Colonna, Xiangqun Zheng-Bradley, Xue Y., Yuan Chen, Yujun Zhang, Zamin Iqbal, Zemin Ning, Zoya KingsburyFuentes:scopusIntegrative annotation of variants from 1092 humans: Application to cancer genomics
ArticleAbstract: Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is chPalabras claves:Autores:A. Abyzov, A. Chakravarti, A. Sboner, Arif O. Harmanci, Bartha M. Knoppers, Bo Wang, Bustamante C.D., C. Sisu, Charles Lee, Christie L. Kovar, Clark A.G., D. Challis, D. Clarke, Daniel G. MacArthur, David M. Altshuler, David R. Bentley, Deborah A. Nickerson, Dimple Chakravarty, Ekta Khurana, Elaine R. Mardis, Emmanouil T. Dermitzakis, Eric D. Green, Erik Garrison, Evan E. Eichler, F. Yu, Fiona Cunningham, G. Li, G. Wang, Gabor T. Marth, Gabriel S.B., Gibbs R.A., Gil A. McVean, Gonçalo Abecasis, Graham R.S. Ritchie, H. Dinh, H. Jiang, H. Wu, H. Yu, Hans Lehrach, Hyun Min Kang, J. A. Rosenfeld, J. Chen, J. Das, J. Li, J. Wang, J. Zhao, Jan O. Korbel, Javier Herrero, Jeanette P. Schmidt, Jeffrey G. Reid, K. Lage, Kathryn Beal, Kong Y., L. Lewis, Lander E., Laura Clarke, Lucas Lochovsky, M. Tang, M. Wang, M. Zhao, Mark A. Rubin, Mark Gerstein, Matthew E. Hurles, Min Jian, Muzny D.M., N. Kitabayashi, Paul Flicek, Peter Donnelly, R. Fragoza, R. Wu, Richard M. Durbin, S. Balasubramanian, S. Lee, S. M. Lipkin, S. Tai, Stephen T. Sherry, T. H. Pers, Tuuli Lappalainen, Tyler-Smith C., U. S. Evani, V. Colonna, V. Liluashvili, W. Zhang, Wilson M.R., Wilson R.K., X. Fang, X. Guo, X. J. Mu, X. Jin, X. Liu, X. Ma, X. Wei, Xue Y., Y. Chen, Y. Fu, Y. Li, Y. Lu, Yin Y., Z. H. Gümüş, Z. Li, Z. SuFuentes:scopusThe functional spectrum of low-frequency coding variation
ArticleAbstract: Background: Rare coding variants constitute an important class of human genetic variation, but are uPalabras claves:Autores:Aarno Palotie, Alistair Ward, Amit R. Indap, Bustamante C.D., Carrie Sougnez, Chip Stewart, Chris Hartl, Clark A.G., D. Challis, David M. Altshuler, David N. Cooper, Edward V. Ball, Elaine R. Mardis, F. Yu, Gabor T. Marth, Gabriel S.B., Gibbs R.A., Jin Yu, Kiran Garimella, Koboldt D.C., Kristian Cibulskis, Laura Clarke, Mark A. DePristo, Mark Daly, Matthew Bainbridge, Muzny D.M., Paul Flicek, Richard E. Smith, Robert S. Fulton, Simon Gravel, Thomas Blackwell, Tyler-Smith C., Wen F. Leong, Xiangqun Zheng-Bradley, Xue Y., Yuan ChenFuentes:scopusY Chromosome Sequences Reveal a Short Beringian Standstill, Rapid Expansion, and early Population structure of Native American Founders
ArticleAbstract: The Americas were the last inhabitable continents to be occupied by humans, with a growing multidiscPalabras claves:Beringia, Native Americans, Phylogeography, pre-Columbian settlement of Americas, Y chromosome lineagesAutores:Ayub Q., Bawn M., Bergström A., Cesar Paz-y-Miño, Cuellar C., Dawtry K., Fabricio Gonzalez-Andrade, Fujita R., Geppert M., Jota M.S., Kate Reed, Kivisild T., Lacerda D.R., Norstedt J., Ohasi D., Pinotti T., Reed K., Revollo S., Roewer L., Sandoval J.R., Santos F.R., Santos J.E., Shi W., Solli A., Toomas Kivisild, Tyler-Smith C., Xue Y.Fuentes:googlescopus