作者
Simon Gravel, Brenna M Henn, Ryan N Gutenkunst, Amit R Indap, Gabor T Marth, Andrew G Clark, Fuli Yu, Richard A Gibbs, Carlos D Bustamante, David L Altshuler, Richard M Durbin, Gonçalo R Abecasis, David R Bentley, Aravinda Chakravarti, Francis S Collins, M Francisco, Peter Donnelly, Michael Egholm, Paul Flicek, Stacey B Gabriel, Bartha M Knoppers, Eric S Lander, Hans Lehrach, Elaine R Mardis, Gil A McVean, Debbie A Nickerson, Leena Peltonen, Alan J Schafer, Stephen T Sherry, Jun Wang, Richard K Wilson, David Deiros, Mike Metzker, Donna Muzny, Jeff Reid, David Wheeler, Jingxiang Li, Min Jian, Guoqing Li, Ruiqiang Li, Huiqing Liang, Geng Tian, Bo Wang, Jian Wang, Wei Wang, Huanming Yang, Xiuqing Zhang, Huisong Zheng, Lauren Ambrogio, Toby Bloom, Kristian Cibulskis, Tim J Fennell, David B Jaffe, Erica Shefler, Carrie L Sougnez, Niall Gormley, Sean Humphray, Zoya Kingsbury, Paula Koko-Gonzales, Jennifer Stone, Kevin J McKernan, Gina L Costa, Jeffry K Ichikawa, Clarence C Lee, Ralf Sudbrak, Tatiana A Borodina, Andreas Dahl, Alexey N Davydov, Peter Marquardt, Florian Mertes, Wilfiried Nietfeld, Philip Rosenstiel, Stefan Schreiber, Aleksey V Soldatov, Bernd Timmermann, Marius Tolzmann, Jason Affourtit, Dana Ashworth, Said Attiya, Melissa Bachorski, Eli Buglione, Adam Burke, Amanda Caprio, Christopher Celone, Shauna Clark, David Conners, Brian Desany, Lisa Gu, Lorri Guccione, Kalvin Kao, Andrew Kebbel, Jennifer Knowlton, Matthew Labrecque, Louise McDade, Craig Mealmaker, Melissa Minderman, Anne Nawrocki, Faheem Niazi, Kristen Pareja, Ravi Ramenani, David Riches, Wanmin Song, Cynthia Turcotte, Shally Wang, David Dooling, Lucinda Fulton, Robert Fulton, George Weinstock, John Burton, David M Carter, Carol Churcher, Alison Coffey, Anthony Cox, Aarno Palotie, Michael Quail, Tom Skelly, James Stalker, Harold P Swerdlow, Daniel Turner, Anniek De Witte, Shane Giles, Matthew Bainbridge, Danny Challis, Aniko Sabo, Jin Yu, Xiaodong Fang, Xiaosen Guo, Yingrui Li, Ruibang Luo, Shuaishuai Tai, Honglong Wu, Hancheng Zheng, Xiaole Zheng, Yan Zhou, Erik P Garrison, Weichun Huang, Amit Indap, Deniz Kural, Wan-Ping Lee, Wen Fung Leong, Aaron R Quinlan, Chip Stewart, Michael P Stromberg, Alistair N Ward, Jiantao Wu, Charles Lee, Ryan E Mills, Xinghua Shi, Mark J Daly, Mark A DePristo
发表日期
2011/7/19
期刊
Proceedings of the National Academy of Sciences
卷号
108
期号
29
页码范围
11983-11988
出版商
National Acad Sciences
简介
High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental human populations and present an approach for combining complementary aspects of whole-genome, low-coverage data and targeted high-coverage data. We apply this approach to data generated by the pilot phase of the Thousand Genomes Project, including whole-genome 2–4× coverage data for 179 samples from HapMap European, Asian, and African panels as well as high-coverage target sequencing of the exons of 800 genes from 697 individuals in seven populations. We use the site frequency spectra obtained from these data to infer demographic parameters for an Out-of-Africa model for populations of African, European, and Asian descent and to predict, by a jackknife-based approach, the amount of genetic diversity that will …
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S Gravel, BM Henn, RN Gutenkunst, AR Indap… - Proceedings of the National Academy of Sciences, 2011