Accurate whole human genome sequencing using reversible terminator chemistry.
Accurate whole human genome sequencing using reversible terminator chemistry.
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DOI：
10.1038/nature07517
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发表时间：
2008-11-06
期刊：
影响因子：
64.8
通讯作者：
Smith AJ
中科院分区：
文献类型：
--
作者：
Bentley DR;Balasubramanian S;Swerdlow HP;Smith GP;Milton J;Brown CG;Hall KP;Evers DJ;Barnes CL;Bignell HR;Boutell JM;Bryant J;Carter RJ;Keira Cheetham R;Cox AJ;Ellis DJ;Flatbush MR;Gormley NA;Humphray SJ;Irving LJ;Karbelashvili MS;Kirk SM;Li H;Liu X;Maisinger KS;Murray LJ;Obradovic B;Ost T;Parkinson ML;Pratt MR;Rasolonjatovo IM;Reed MT;Rigatti R;Rodighiero C;Ross MT;Sabot A;Sankar SV;Scally A;Schroth GP;Smith ME;Smith VP;Spiridou A;Torrance PE;Tzonev SS;Vermaas EH;Walter K;Wu X;Zhang L;Alam MD;Anastasi C;Aniebo IC;Bailey DM;Bancarz IR;Banerjee S;Barbour SG;Baybayan PA;Benoit VA;Benson KF;Bevis C;Black PJ;Boodhun A;Brennan JS;Bridgham JA;Brown RC;Brown AA;Buermann DH;Bundu AA;Burrows JC;Carter NP;Castillo N;Chiara E Catenazzi M;Chang S;Neil Cooley R;Crake NR;Dada OO;Diakoumakos KD;Dominguez-Fernandez B;Earnshaw DJ;Egbujor UC;Elmore DW;Etchin SS;Ewan MR;Fedurco M;Fraser LJ;Fuentes Fajardo KV;Scott Furey W;George D;Gietzen KJ;Goddard CP;Golda GS;Granieri PA;Green DE;Gustafson DL;Hansen NF;Harnish K;Haudenschild CD;Heyer NI;Hims MM;Ho JT;Horgan AM;Hoschler K;Hurwitz S;Ivanov DV;Johnson MQ;James T;Huw Jones TA;Kang GD;Kerelska TH;Kersey AD;Khrebtukova I;Kindwall AP;Kingsbury Z;Kokko-Gonzales PI;Kumar A;Laurent MA;Lawley CT;Lee SE;Lee X;Liao AK;Loch JA;Lok M;Luo S;Mammen RM;Martin JW;McCauley PG;McNitt P;Mehta P;Moon KW;Mullens JW;Newington T;Ning Z;Ling Ng B;Novo SM;O'Neill MJ;Osborne MA;Osnowski A;Ostadan O;Paraschos LL;Pickering L;Pike AC;Pike AC;Chris Pinkard D;Pliskin DP;Podhasky J;Quijano VJ;Raczy C;Rae VH;Rawlings SR;Chiva Rodriguez A;Roe PM;Rogers J;Rogert Bacigalupo MC;Romanov N;Romieu A;Roth RK;Rourke NJ;Ruediger ST;Rusman E;Sanches-Kuiper RM;Schenker MR;Seoane JM;Shaw RJ;Shiver MK;Short SW;Sizto NL;Sluis JP;Smith MA;Ernest Sohna Sohna J;Spence EJ;Stevens K;Sutton N;Szajkowski L;Tregidgo CL;Turcatti G;Vandevondele S;Verhovsky Y;Virk SM;Wakelin S;Walcott GC;Wang J;Worsley GJ;Yan J;Yau L;Zuerlein M;Rogers J;Mullikin JC;Hurles ME;McCooke NJ;West JS;Oaks FL;Lundberg PL;Klenerman D;Durbin R;Smith AJ
DNA序列信息是遗传研究的基础，使重要的生物或医学利益的发现成为可能。测序项目传统上使用长（400-800个碱基对）读段，但人类和许多其他基因组的参考序列的存在使得开发新的快速重新测序方法成为可能，从而将较短的读段与参考进行比较以鉴定种内遗传变异。在这里，我们报告了一种方法，产生几十亿个碱基的准确的核苷酸序列，每个实验在低成本。单分子DNA附着在一个平面上，原位固定，并用作荧光可逆终止脱氧核糖核苷酸合成测序的模板。分析表面图像以生成高质量序列。我们展示了应用这种方法对流式分选的X染色体进行人类基因组测序，然后将该方法扩展到确定来自尼日利亚伊巴丹的男性约鲁巴人的基因组序列。我们从>30×配对的35个碱基读段的平均深度构建准确的共有序列。我们描述了400万个单核苷酸多态性和40万个结构变异，其中许多是以前未知的。我们的方法是有效的准确，快速和经济的全基因组重测序和许多其他生物医学应用。
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence of reference sequences for the human and many other genomes makes it possible to develop new, fast approaches to re-sequencing, whereby shorter reads are compared to a reference to identify intraspecies genetic variation. Here we report an approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost. Single molecules of DNA are attached to a flat surface, amplifiedin situand used as templates for synthetic sequencing with fluorescent reversible terminator deoxyribonucleotides. Images of the surface are analysed to generate high-quality sequence. We demonstrate application of this approach to human genome sequencing on flow-sorted X chromosomes and then scale the approach to determine the genome sequence of a male Yoruba from Ibadan, Nigeria. We build an accurate consensus sequence from >30× average depth of paired 35-base reads. We characterize four million single-nucleotide polymorphisms and four hundred thousand structural variants, many of which were previously unknown. Our approach is effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications.
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BTA 是一种新型试剂，用于将 DNA 附着在玻璃上并有效生成固相扩增 DNA 菌落。
影响因子：
14.9
作者：
Fedurco, M;Romieu, A;Williams, S;Lawrence, I;Turcatti, G
通讯作者：
Turcatti, G
影响因子：
64.8
作者：
Frazer, Kelly A.;Ballinger, Dennis G.;Cox, David R.;Hinds, David A.;Stuve, Laura L.;Gibbs, Richard A.;Belmont, John W.;Boudreau, Andrew;Hardenbol, Paul;Leal, Suzanne M.;Pasternak, Shiran;Wheeler, David A.;Willis, Thomas D.;Yu, Fuli;Yang, Huanming;Zeng, Changqing;Gao, Yang;Hu, Haoran;Hu, Weitao;Li, Chaohua;Lin, Wei;Liu, Siqi;Pan, Hao;Tang, Xiaoli;Wang, Jian;Wang, Wei;Yu, Jun;Zhang, Bo;Zhang, Qingrun;Zhao, Hongbin;Zhao, Hui;Zhou, Jun;Gabriel, Stacey B.;Barry, Rachel;Blumenstiel, Brendan;Camargo, Amy;Defelice, Matthew;Faggart, Maura;Goyette, Mary;Gupta, Supriya;Moore, Jamie;Nguyen, Huy;Onofrio, Robert C.;Parkin, Melissa;Roy, Jessica;Stahl, Erich;Winchester, Ellen;Ziaugra, Liuda;Altshuler, David;Shen, Yan;Yao, Zhijian;Huang, Wei;Chu, Xun;He, Yungang;Jin, Li;Liu, Yangfan;Shen, Yayun;Sun, Weiwei;Wang, Haifeng;Wang, Yi;Wang, Ying;Xiong, Xiaoyan;Xu, Liang;Waye, Mary M. Y.;Tsui, Stephen K. W.;Wong, J. Tze-Fei;Galver, Luana M.;Fan, Jian-Bing;Gunderson, Kevin;Murray, Sarah S.;Oliphant, Arnold R.;Chee, Mark S.;Montpetit, Alexandre;Chagnon, Fanny;Ferretti, Vincent;Leboeuf, Martin;Olivier, Jean-Franccois;Phillips, Michael S.;Roumy, Stephanie;Sallee, Clementine;Verner, Andrei;Hudson, Thomas J.;Kwok, Pui-Yan;Cai, Dongmei;Koboldt, Daniel C.;Miller, Raymond D.;Pawlikowska, Ludmila;Taillon-Miller, Patricia;Xiao, Ming;Tsui, Lap-Chee;Mak, William;Song, You Qiang;Tam, Paul K. H.;Nakamura, Yusuke;Kawaguchi, Takahisa;Kitamoto, Takuya;Morizono, Takashi;Nagashima, Atsushi;Ohnishi, Yozo;Sekine, Akihiro;Tanaka, Toshihiro;Tsunoda, Tatsuhiko;Deloukas, Panos;Bird, Christine P.;Delgado, Marcos;Dermitzakis, Emmanouil T.;Gwilliam, Rhian;Hunt, Sarah;Morrison, Jonathan;Powell, Don;Stranger, Barbara E.;Whittaker, Pamela;Bentley, David R.;Daly, Mark J.;de Bakker, Paul I. W.;Barrett, Jeff;Chretien, Yves R.;Maller, Julian;McCarroll, Steve;Patterson, Nick;Pe'er, Itsik;Price, Alkes;Purcell, Shaun;Richter, Daniel J.;Sabeti, Pardis;Saxena, Richa;Schaffner, Stephen F.;Sham, Pak C.;Varilly, Patrick;Altshuler, David;Stein, Lincoln D.;Krishnan, Lalitha;Smith, Albert Vernon;Tello-Ruiz, Marcela K.;Thorisson, Gudmundur A.;Chakravarti, Aravinda;Chen, Peter E.;Cutler, David J.;Kashuk, Carl S.;Lin, Shin;Abecasis, Goncalo R.;Guan, Weihua;Li, Yun;Munro, Heather M.;Qin, Zhaohui Steve;Thomas, Daryl J.;McVean, Gilean;Auton, Adam;Bottolo, Leonardo;Cardin, Niall;Eyheramendy, Susana;Freeman, Colin;Marchini, Jonathan;Myers, Simon;Spencer, Chris;Stephens, Matthew;Donnelly, Peter;Cardon, Lon R.;Clarke, Geraldine;Evans, David M.;Morris, Andrew P.;Weir, Bruce S.;Tsunoda, Tatsuhiko;Johnson, Todd A.;Mullikin, James C.;Sherry, Stephen T.;Feolo, Michael;Skol, Andrew
通讯作者：
Skol, Andrew
影响因子：
14.9
作者：
Hubbard, T;Barker, D;Clamp, M
通讯作者：
Clamp, M
影响因子：
7
作者：
Li, Heng;Ruan, Jue;Durbin, Richard
通讯作者：
Durbin, Richard
影响因子：
30.8
作者：
Campbell, Peter J.;Stephens, Philip J.;Pleasance, Erin D.;O'Meara, Sarah;Li, Heng;Santarius, Thomas;Stebbings, Lucy A.;Leroy, Catherine;Edkins, Sarah;Hardy, Claire;Teague, Jon W.;Menzies, Andrew;Goodhead, Ian;Turner, Daniel J.;Clee, Christopher M.;Quail, Michael A.;Cox, Antony;Brown, Clive;Durbin, Richard;Hurles, Matthew E.;Edwards, Paul A. W.;Bignell, Graham R.;Stratton, Michael R.;Futreal, P. Andrew
通讯作者：
Futreal, P. Andrew