Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.
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DOI：
10.1038/nature11236
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发表时间：
2012-07-11
期刊：
影响因子：
64.8
通讯作者：
Drmanac, Radoje
中科院分区：
文献类型：
--
作者：
Peters, Brock A.;Kermani, Bahram G.;Sparks, Andrew B.;Alferov, Oleg;Hong, Peter;Alexeev, Andrei;Jiang, Yuan;Dahl, Fredrik;Tang, Y. Tom;Haas, Juergen;Robasky, Kimberly;Zaranek, Alexander Wait;Lee, Je-Hyuk;Ball, Madeleine Price;Peterson, Joseph E.;Perazich, Helena;Yeung, George;Liu, Jia;Chen, Linsu;Kennemer, Michael I.;Pothuraju, Kaliprasad;Konvicka, Karel;Tsoupko-Sitnikov, Mike;Pant, Krishna P.;Ebert, Jessica C.;Nilsen, Geoffrey B.;Baccash, Jonathan;Halpern, Aaron L.;Church, George M.;Drmanac, Radoje
全基因组测序的最新进展使个人基因组学和基因组医学的愿景更接近现实。然而，目前的方法缺乏临床准确性和描述基因组变异以成本效益的方式共同出现的背景（单倍型）的能力。在这里，我们描述了一种低成本的DNA测序和单倍型分析过程，长片段读取（LFR）技术，类似于测序长的单个DNA分子，而无需克隆或分离中期染色体。在这项研究中，每个样品仅使用约100 pg的人DNA制备了10个LFR文库。高达97%的杂合单核苷酸变体（SNV）组装成长单倍型重叠群。去除未被多个LFR单倍型定相的假阳性SNV导致最终基因组错误率为1/10 Mb。如本文所示，从10-20个人类细胞中进行具有成本效益和准确的基因组测序和单体型分析，将使全面的遗传研究和多样化的临床应用成为可能。
Recent advances in whole genome sequencing have brought the vision of personal genomics and genomic medicine closer to reality. However, current methods lack clinical accuracy and the ability to describe the context (haplotypes) in which genome variants co-occur in a cost-effective manner. Here we describe a low-cost DNA sequencing and haplotyping process, Long Fragment Read (LFR) technology, similar to sequencing long single DNA molecules without cloning or separation of metaphase chromosomes. In this study, ten LFR libraries were made using only ~100 pg of human DNA per sample. Up to 97% of the heterozygous single nucleotide variants (SNVs) were assembled into long haplotype contigs. Removal of false positive SNVs not phased by multiple LFR haplotypes resulted in a final genome error rate of 1 in 10 Mb. Cost-effective and accurate genome sequencing and haplotyping from 10-20 human cells, as demonstrated here, will enable comprehensive genetic studies and diverse clinical applications.
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DOI：
10.1126/science.1215040
发表时间：
2012-02-17
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
MacArthur DG;Balasubramanian S;Frankish A;Huang N;Morris J;Walter K;Jostins L;Habegger L;Pickrell JK;Montgomery SB;Albers CA;Zhang ZD;Conrad DF;Lunter G;Zheng H;Ayub Q;DePristo MA;Banks E;Hu M;Handsaker RE;Rosenfeld JA;Fromer M;Jin M;Mu XJ;Khurana E;Ye K;Kay M;Saunders GI;Suner MM;Hunt T;Barnes IH;Amid C;Carvalho-Silva DR;Bignell AH;Snow C;Yngvadottir B;Bumpstead S;Cooper DN;Xue Y;Romero IG;1000 Genomes Project Consortium;Wang J;Li Y;Gibbs RA;McCarroll SA;Dermitzakis ET;Pritchard JK;Barrett JC;Harrow J;Hurles ME;Gerstein MB;Tyler-Smith C
通讯作者：
Tyler-Smith C
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：
1.7
作者：
Carnevali, Paolo;Baccash, Jonathan;Drmanac, Radoje
通讯作者：
Drmanac, Radoje
影响因子：
9.8
作者：
Roach, Jared C.;Glusman, Gustavo;Smit, Arian F. A.
通讯作者：
Smit, Arian F. A.
影响因子：
64.8
作者：
Ley, Timothy J.;Mardis, Elaine R.;Ding, Li;Fulton, Bob;McLellan, Michael D.;Chen, Ken;Dooling, David;Dunford-Shore, Brian H.;McGrath, Sean;Hickenbotham, Matthew;Cook, Lisa;Abbott, Rachel;Larson, David E.;Koboldt, Dan C.;Pohl, Craig;Smith, Scott;Hawkins, Amy;Abbott, Scott;Locke, Devin;Hillier, LaDeana W.;Miner, Tracie;Fulton, Lucinda;Magrini, Vincent;Wylie, Todd;Glasscock, Jarret;Conyers, Joshua;Sander, Nathan;Shi, Xiaoqi;Osborne, John R.;Minx, Patrick;Gordon, David;Chinwalla, Asif;Zhao, Yu;Ries, Rhonda E.;Payton, Jacqueline E.;Westervelt, Peter;Tomasson, Michael H.;Watson, Mark;Baty, Jack;Ivanovich, Jennifer;Heath, Sharon;Shannon, William D.;Nagarajan, Rakesh;Walter, Matthew J.;Link, Daniel C.;Graubert, Timothy A.;DiPersio, John F.;Wilson, Richard K.
通讯作者：
Wilson, Richard K.