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Sarah Ng, Emily Turner, P. Robertson, Steven Flygare, A. Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan Eichler, Michael Bamshad, Deborah Nickerson, Jay Shendure (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
F. Hormozdiari, I. Hajirasouliha, Phuong Dao, Faraz Hach, Deniz Yörükoglu, C. Alkan, E. Eichler, S. Sahinalp (2010)
Next-generation VariationHunter: combinatorial algorithms for transposon insertion discoveryBioinformatics, 26
Li Ma, Yan Xiao, Hui-yuan Huang, Qingwei Wang, W. Rao, Yue Feng, Kui Zhang, Qing Song (2010)
Direct determination of molecular haplotypes by chromosome microdissectionNature methods, 7
J. Shendure, Hanlee Ji (2008)
Next-generation DNA sequencingNature Biotechnology, 26
Peter Sudmant, J. Kitzman, F. Antonacci, C. Alkan, M. Malig, A. Tsalenko, N. Sampas, L. Bruhn, J. Shendure, E. Eichler (2010)
Diversity of Human Copy Number Variation and Multicopy GenesScience, 330
(2010)
Human genome: Genomes by the thousandNature, 467
V. Bansal, V. Bafna (2008)
HapCUT: an efficient and accurate algorithm for the haplotype assembly problemBioinformatics, 24 16
C. Alkan, C. Alkan, J. Kidd, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Gozde Aksay, F. Antonacci, F. Hormozdiari, J. Kitzman, Carl Baker, M. Malig, O. Mutlu, S. Sahinalp, R. Gibbs, E. Eichler, E. Eichler (2009)
Personalized Copy-Number and Segmental Duplication Maps using Next-Generation SequencingNature genetics, 41
Andrew Adey, H. Morrison, Asan name), Xu Xun, J. Kitzman, Emily Turner, B. Stackhouse, Alexandra MacKenzie, N. Caruccio, Xiuqing Zhang, J. Shendure (2010)
Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transpositionGenome Biology, 11
B. Tycko (2010)
Allele-specific DNA methylation: beyond imprinting.Human molecular genetics, 19 R2
(2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
R. Green, J. Krause, Adrian Briggs, T. Maricic, U. Stenzel, Martin Kircher, N. Patterson, Heng Li, W. Zhai, Markus Fritz, N. Hansen, E. Durand, Anna-Sapfo Malaspinas, J. Jensen, Tomàs Marquès-Bonet, C. Alkan, Kay Prüfer, M. Meyer, H. Burbano, J. Good, R. Schultz, Ayinuer Aximu-Petri, Anne Butthof, Barbara Höber, Barbara Höffner, M. Siegemund, A. Weihmann, C. Nusbaum, E. Lander, C. Russ, Nathaniel Novod, J. Affourtit, M. Egholm, C. Verna, P. Rudan, D. Brajković, Ž. Kućan, I. Gusic, V. Doronichev, L. Golovanova, C. Lalueza-Fox, M. Rasilla, J. Fortea, A. Rosas, R. Schmitz, Philip Johnson, E. Eichler, D. Falush, E. Birney, J. Mullikin, M. Slatkin, R. Nielsen, J. Kelso, M. Lachmann, D. Reich, S. Pääbo (2010)
A Draft Sequence of the Neandertal GenomeScience, 328
V. Bansal, A. Halpern, Nelson Axelrod, V. Bafna (2008)
An MCMC algorithm for haplotype assembly from whole-genome sequence data.Genome research, 18 8
Sarah Ng, K. Buckingham, Choli Lee, A. Bigham, H. Tabor, K. Dent, C. Huff, P. Shannon, E. Jabs, D. Nickerson, J. Shendure, M. Bamshad (2009)
Exome sequencing identifies the cause of a Mendelian disorderNature genetics, 42
C. Raymond, S. Subramanian, Marcia Paddock, R. Qiu, Chloe Deodato, A. Palmieri, Jean Chang, Tana Radke, E. Haugen, A. Kas, David Waring, Donald Bovee, R. Stacy, R. Kaul, M. Olson (2005)
Targeted, haplotype-resolved resequencing of long segments of the human genome.Genomics, 86 6
M. Zody, Zhaoshi Jiang, H. Fung, F. Antonacci, L. Hillier, M. Cardone, T. Graves, J. Kidd, Ze Cheng, Amr Abouelleil, Lin Chen, J. Wallis, Jarret Glasscock, R. Wilson, A. Reily, J. Duckworth, M. Ventura, J. Hardy, W. Warren, E. Eichler (2008)
Evolutionary toggling of the MAPT 17q21.31 inversion regionNature Genetics, 40
D. Altshuler, R. Gibbs, L. Peltonen, E. Dermitzakis, S. Schaffner, F. Yu, P. Bonnen, P. Bakker, P. Deloukas, S. Gabriel, R. Gwilliam, S. Hunt, M. Inouye, Xiaoming Jia, A. Palotie, Melissa Parkin, P. Whittaker, K. Chang, A. Hawes, L. Lewis, Yanru Ren, D. Wheeler, D. Muzny, Chris Barnes, K. Darvishi, M. Hurles, Joshua Korn, K. Kristiansson, Charles Lee, Steven McCarrol, J. Nemesh, A. Keinan, S. Montgomery, Samuela Pollack, A. Price, N. Soranzo, C. Gonzaga‐Jauregui, V. Anttila, W. Brodeur, M. Daly, S. Leslie, G. McVean, L. Moutsianas, Huy Nguyen, Qingrun Zhang, Mohammed Ghori, R. McGinnis, W. McLaren, F. Takeuchi, S. Grossman, I. Shlyakhter, E. Hostetter, Pardis Sabeti, C. Adebamowo, M. Foster, D. Gordon, J. Licinio, M. Manca, P. Marshall, I. Matsuda, D. Ngare, V. Wang, Deepa Reddy, C. Rotimi, C. Royal, R. Sharp, Changqing Zeng, L. Brooks, J. Mcewen (2010)
Integrating common and rare genetic variation in diverse human populationsNature, 467
Jun Wang, Wei Wang, Ruiqiang Li, Yingrui Li, G. Tian, L. Goodman, Wei Fan, Junqing Zhang, Jun Li, Juanbin Zhang, Yiran Guo, Binxiao Feng, Heng Li, Yao Lu, X. Fang, Huiqing Liang, Zhenglin Du, Dong Li, Yiqing Zhao, Yujie Hu, Zhenzhen Yang, Hancheng Zheng, Ines Hellmann, M. Inouye, J. Pool, X. Yi, J. Zhao, Jinjie Duan, Yan Zhou, J. Qin, Lijia Ma, Guoqing Li, Zhentao Yang, Guojie Zhang, Bin Yang, Chang Yu, Fang Liang, Wen-jie Li, Shaochuan Li, Dawei Li, Peixiang Ni, Jue Ruan, Qibin Li, Hong-mei Zhu, Dongyuan Liu, Zhike Lu, Ning Li, Guangwu Guo, Jianguo Zhang, Jia Ye, L. Fang, Qin Hao, Quan Chen, Yuxi Liang, Yeyang Su, A. San, Cuo Ping, Shuang Yang, Fang Chen, Li Li, Ke Zhou, Hongkun Zheng, Yuanyuan Ren, Ling Yang, Yang Gao, Guohua Yang, Zhuo Li, Xiaoli Feng, K. Kristiansen, G. Wong, R. Nielsen, R. Durbin, L. Bolund, Xiuqing Zhang, Songgang Li, Huanming Yang, Jian Wang (2008)
The diploid genome sequence of an Asian individualNature, 456
J. Kidd, N. Sampas, F. Antonacci, T. Graves, R. Fulton, H. Hayden, C. Alkan, M. Malig, M. Ventura, G. Giannuzzi, Joelle Kallicki, Paige Anderson, A. Tsalenko, N. Yamada, P. Tsang, R. Kaul, R. Wilson, L. Bruhn, Evan Eichler, Evan Eichler (2010)
Characterization of Missing Human Genome Sequences and Copy-number Polymorphic InsertionsNature methods, 7
International Consortium (2001)
Initial sequencing and analysis of the human genomeNature, 409
D. Zerbino, E. Birney (2008)
Velvet: algorithms for de novo short read assembly using de Bruijn graphs.Genome research, 18 5
Jong Kim, M. Waterman, Lei Li (2007)
Diploid genome reconstruction of Ciona intestinalis and comparative analysis with Ciona savignyi.Genome research, 17 7
S. Levy, G. Sutton, P. Ng, L. Feuk, A. Halpern, B. Walenz, Nelson Axelrod, Jiaqi Huang, E. Kirkness, Gennady Denisov, Yuan Lin, J. MacDonald, Andy Wing, Chun Pang, M. Shago, Timothy Stockwell, Alexia Tsiamouri, V. Bafna, V. Bansal, S. Kravitz, D. Busam, K. Beeson, T. McIntosh, K. Remington, J. Abril, J. Gill, Jon Borman, Y. Rogers, M. Frazier, S. Scherer, R. Strausberg, J. Venter (2007)
The Diploid Genome Sequence of an Individual HumanPLoS Biology, 5
J. Roach, G. Glusman, Arian Smit, C. Huff, R. Hubley, P. Shannon, L. Rowen, K. Pant, N. Goodman, M. Bamshad, J. Shendure, R. Drmanac, L. Jorde, Leroy Hood, D. Galas (2010)
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome SequencingScience, 328
Ruiqiang Li, Yingrui Li, Hancheng Zheng, Ruibang Luo, Hong-mei Zhu, Qibin Li, W. Qian, Yuanyuan Ren, G. Tian, Jinxiang Li, Guangyu Zhou, Xuan Zhu, Honglong Wu, J. Qin, Xin Jin, Dongfang Li, H. Cao, Xueda Hu, H. Blanché, H. Cann, Xiuqing Zhang, Songgang Li, L. Bolund, K. Kristiansen, Huanming Yang, Jun Wang, Jian Wang (2010)
Building the sequence map of the human pan-genomeNature Biotechnology, 28
Jan Korbel, Alexander Urban, J. Affourtit, Brian Godwin, Fabian Grubert, Jan Simons, Philip Kim, D. Palejev, Nicholas Carriero, Lei Du, Bruce Taillon, Zhoutao Chen, Andrea Tanzer, C. A., Eugenia Saunders, Jianxiang Chi, Fengtang Yang, Nigel Carter, M. Hurles, Sherman Weissman, Timothy Harkins, Mark Gerstein, Michael Egholm, Michael Snyder (2007)
Paired-End Mapping Reveals Extensive Structural Variation in the Human GenomeScience, 318
G. Abecasis, D. Altshuler, A. Auton, L. Brooks, R. Durbin, R. Gibbs, M. Hurles, G. McVean (2010)
A map of human genome variation from population-scale sequencingNature, 467
J. Kidd, G. Cooper, W. Donahue, H. Hayden, N. Sampas, T. Graves, N. Hansen, Brian Teague, C. Alkan, F. Antonacci, E. Haugen, Troy Zerr, N. Yamada, P. Tsang, Tera Newman, Eray Tüzün, Ze Cheng, H. Ebling, N. Tusneem, R. David, W. Gillett, K. Phelps, M. Weaver, David Saranga, A. Brand, Wei Tao, E. Gustafson, K. McKernan, Lin Chen, M. Malig, Joshua Smith, Joshua Korn, S. Mccarroll, D. Altshuler, D. Peiffer, M. Dorschner, J. Stamatoyannopoulos, D. Schwartz, D. Nickerson, Jim Mullikin, R. Wilson, L. Bruhn, M. Olson, R. Kaul, Douglas Smith, E. Eichler (2008)
Mapping and sequencing of structural variation from eight human genomesNature, 453
M. Schatz, A. Delcher, S. Salzberg (2010)
Assembly of large genomes using second-generation sequencing.Genome research, 20 9
A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, M. DePristo (2010)
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.Genome research, 20 9
K. McKernan, H. Peckham, G. Costa, Stephen McLaughlin, Yutao Fu, Eric Tsung, C. Clouser, C. Duncan, J. Ichikawa, Clarence Lee, Zheng Zhang, S. Ranade, E. Dimalanta, F. Hyland, T. Sokolsky, Lei Zhang, A. Sheridan, Hao Fu, C. Hendrickson, Bin Li, L. Kotler, Jeremy Stuart, J. Malek, J. Manning, A. Antipova, D. Perez, Michael Moore, K. Hayashibara, Michael Lyons, Robert Beaudoin, B. Coleman, M. Laptewicz, Adam Sannicandro, Michael Rhodes, R. Gottimukkala, Shan Yang, V. Bafna, A. Bashir, A. MacBride, C. Alkan, J. Kidd, E. Eichler, M. Reese, Francisco Vega, A. Blanchard (2009)
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.Genome research, 19 9
Connie Drysdale, D. McGraw, Catharine Stack, J. Stephens, R. Judson, K. Nandabalan, Kevin Arnold, G. Ruaño, S. Liggett (2000)
Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness.Proceedings of the National Academy of Sciences of the United States of America, 97 19
D. Reich, K. Thangaraj, N. Patterson, A. Price, L. Singh (2009)
Reconstructing Indian Population HistoryNature, 461
Sequencing a human genome using next-generation methods does not distinguish between the two copies of each chromosome. Kitzman et al. determine a haplotype-resolved genome sequence by efficiently constructing and sequencing long-insert clones that cover the diploid genome with a low likelihood of overlap.
Nature Biotechnology – Springer Journals
Published: Dec 19, 2010
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