Characterizing the Major Structural Variant Alleles of the Human Genome

作者: Peter A. Audano , Arvis Sulovari , Tina A. Graves-Lindsay , Stuart Cantsilieris , Melanie Sorensen

DOI: 10.1016/J.CELL.2018.12.019

关键词:

摘要: In order to provide a comprehensive resource for human structural variants (SVs), we generated long-read sequence data and analyzed SVs for fifteen human genomes. We …

参考文章(69)
Konstantin Berlin, Sergey Koren, Chen-Shan Chin, James P Drake, Jane M Landolin, Adam M Phillippy, Assembling large genomes with single-molecule sequencing and locality-sensitive hashing Nature Biotechnology. ,vol. 33, pp. 623- 630 ,(2015) , 10.1038/NBT.3238
Chimpanzee Sequencing and Analysis Consortium Waterson Robert H. waterston@ gs. washington. edu Lander Eric S. lander@ broad. mit. edu Wilson Richard K. rwilson@ watson. wustl. edu, None, Initial sequence of the chimpanzee genome and comparison with the human genome Nature. ,vol. 437, pp. 69- 87 ,(2005) , 10.1038/NATURE04072
Matthew Pendleton, Robert Sebra, Andy Wing Chun Pang, Ajay Ummat, Oscar Franzen, Tobias Rausch, Adrian M Stütz, William Stedman, Thomas Anantharaman, Alex Hastie, Heng Dai, Markus Hsi-Yang Fritz, Han Cao, Ariella Cohain, Gintaras Deikus, Russell E Durrett, Scott C Blanchard, Roger Altman, Chen-Shan Chin, Yan Guo, Ellen E Paxinos, Jan O Korbel, Robert B Darnell, W Richard McCombie, Pui-Yan Kwok, Christopher E Mason, Eric E Schadt, Ali Bashir, Assembly and diploid architecture of an individual human genome via single-molecule technologies Nature Methods. ,vol. 12, pp. 780- 786 ,(2015) , 10.1038/NMETH.3454
Ngan Nguyen, Glenn Hickey, Daniel R. Zerbino, Brian Raney, Dent Earl, Joel Armstrong, W. James Kent, David Haussler, Benedict Paten, Building a Pan-Genome Reference for a Population Journal of Computational Biology. ,vol. 22, pp. 387- 401 ,(2015) , 10.1089/CMB.2014.0146
Peter H Sudmant, Tobias Rausch, Eugene J Gardner, Robert E Handsaker, Alexej Abyzov, John Huddleston, Yan Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz, Miriam K Konkel, Ankit Malhotra, Adrian M Stütz, Xinghua Shi, Francesco Paolo Casale, Jieming Chen, Fereydoun Hormozdiari, Gargi Dayama, Ken Chen, Maika Malig, Mark JP Chaisson, Klaudia Walter, Sascha Meiers, Seva Kashin, Erik Garrison, Adam Auton, Hugo YK Lam, Xinmeng Jasmine Mu, Can Alkan, Danny Antaki, Taejeong Bae, Eliza Cerveira, Peter Chines, Zechen Chong, Laura Clarke, Elif Dal, Li Ding, Sarah Emery, Xian Fan, Madhusudan Gujral, Fatma Kahveci, Jeffrey M Kidd, Yu Kong, Eric-Wubbo Lameijer, Shane McCarthy, Paul Flicek, Richard A Gibbs, Gabor Marth, Christopher E Mason, Androniki Menelaou, Donna M Muzny, Bradley J Nelson, Amina Noor, Nicholas F Parrish, Matthew Pendleton, Andrew Quitadamo, Benjamin Raeder, Eric E Schadt, Mallory Romanovitch, Andreas Schlattl, Robert Sebra, Andrey A Shabalin, Andreas Untergasser, Jerilyn A Walker, Min Wang, Fuli Yu, Chengsheng Zhang, Jing Zhang, Xiangqun Zheng-Bradley, Wanding Zhou, Thomas Zichner, Jonathan Sebat, Mark A Batzer, Steven A McCarroll, Ryan E Mills, Mark B Gerstein, Ali Bashir, Oliver Stegle, Scott E Devine, Charles Lee, Evan E Eichler, Jan O Korbel, 1000 Genomes Project Consortium, None, An integrated map of structural variation in 2,504 human genomes Nature. ,vol. 526, pp. 75- 81 ,(2015) , 10.1038/NATURE15394
Laurent C Francioli, Paz P Polak, Amnon Koren, Androniki Menelaou, Sung Chun, Ivo Renkens, Genome of the Netherlands Consortium, Cornelia M van Duijn, Morris Swertz, Cisca Wijmenga, Gertjan van Ommen, P Eline Slagboom, Dorret I Boomsma, Kai Ye, Victor Guryev, Peter F Arndt, Wigard P Kloosterman, Paul IW de Bakker, Shamil R Sunyaev, None, Genome-wide patterns and properties of de novo mutations in humans Nature Genetics. ,vol. 47, pp. 822- 826 ,(2015) , 10.1038/NG.3292
Corey T. Watson, Karyn M. Steinberg, John Huddleston, Rene L. Warren, Maika Malig, Jacqueline Schein, A. Jeremy Willsey, Jeffrey B. Joy, Jamie K. Scott, Tina A. Graves, Richard K. Wilson, Robert A. Holt, Evan E. Eichler, Felix Breden, Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation. American Journal of Human Genetics. ,vol. 92, pp. 530- 546 ,(2013) , 10.1016/J.AJHG.2013.03.004
Hillary S. Hayden, Maika Malig, Joelle Kallicki, Rajinder Kaul, Richard K. Wilson, Evan E. Eichler, Jeffrey M. Kidd, Tina Graves, Tera L. Newman, Robert Fulton, A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms Cell. ,vol. 143, pp. 837- 847 ,(2010) , 10.1016/J.CELL.2010.10.027
Chen-Shan Chin, David H Alexander, Patrick Marks, Aaron A Klammer, James Drake, Cheryl Heiner, Alicia Clum, Alex Copeland, John Huddleston, Evan E Eichler, Stephen W Turner, Jonas Korlach, Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data Nature Methods. ,vol. 10, pp. 563- 569 ,(2013) , 10.1038/NMETH.2474
K. Brick, P. Khil, F. Smagulova, G. V. Petukhova, R. D. Camerini-Otero, F. Pratto, Recombination initiation maps of individual human genomes Science. ,vol. 346, pp. 1256442- 1256442 ,(2014) , 10.1126/SCIENCE.1256442