Accurate whole human genome sequencing using reversible terminator chemistry
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Accurate whole human genome sequencing using reversible terminator chemistry

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;;
Nature 2008 Vol. 456 pp. -
254
dr2008natureaccurate

Abstract

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 …

Keywords

National Center for Biotechnology Information NCBI NLM MEDLINE Nigeria humans pubmed abstract nih national institutes of health national library of medicine research support non-u.s. gov't male N.I.H. Sequence Analysis genome human / genetics* human genomics / methods* sensitivity and specificity Genotype Polymorphism DNA / methods* chromosomes genomics / economics dna / economics intramural single nucleotide / genetics pmid:18987734 pmc2581791 doi:10.1038/nature07517 david r bentley shankar balasubramanian anthony j smith x / genetics consensus sequence / genetics

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