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Accurate whole human genome sequencing using reversible terminator chemistry

David R. Bentley (), Shankar Balasubramanian, Harold P. Swerdlow, Geoffrey P. Smith, John Milton, Clive G. Brown, Kevin P. Hall, Dirk J. Evers, Colin L. Barnes, Helen R. Bignell, Jonathan M. Boutell, Jason Bryant, Richard J. Carter, R. Keira Cheetham, Anthony J. Cox, Darren J. Ellis, Michael R. Flatbush, Niall A. Gormley, Sean J. Humphray, Leslie J. Irving, Mirian S. Karbelashvili, Scott M. Kirk, Heng Li, Xiaohai Liu, Klaus S. Maisinger, Lisa J. Murray, Bojan Obradovic, Tobias Ost, Michael L. Parkinson, Mark R. Pratt, Isabelle M. J. Rasolonjatovo, Mark T. Reed, Roberto Rigatti, Chiara Rodighiero, Mark T. Ross, Andrea Sabot, Subramanian V. Sankar, Aylwyn Scally, Gary P. Schroth, Mark E. Smith, Vincent P. Smith, Anastassia Spiridou, Peta E. Torrance, Svilen S. Tzonev, Eric H. Vermaas, Klaudia Walter, Xiaolin Wu, Lu Zhang, Mohammed D. Alam, Carole Anastasi, Ify C. Aniebo, David M. D. Bailey, Iain R. Bancarz, Saibal Banerjee, Selena G. Barbour, Primo A. Baybayan, Vincent A. Benoit, Kevin F. Benson, Claire Bevis, Phillip J. Black, Asha Boodhun, Joe S. Brennan, John A. Bridgham, Rob C. Brown, Andrew A. Brown, Dale H. Buermann, Abass A. Bundu, James C. Burrows, Nigel P. Carter, Nestor Castillo, Maria Chiara E. Catenazzi, Simon Chang, R. Neil Cooley, Natasha R. Crake, Olubunmi O. Dada, Konstantinos D. Diakoumakos, Belen Dominguez-Fernandez, David J. Earnshaw, Ugonna C. Egbujor, David W. Elmore, Sergey S. Etchin, Mark R. Ewan, Milan Fedurco, Louise J. Fraser, Karin V. Fuentes Fajardo, W. Scott Furey, David George, Kimberley J. Gietzen, Colin P. Goddard, George S. Golda, Philip A. Granieri, David E. Green, David L. Gustafson, Nancy F. Hansen, Kevin Harnish, Christian D. Haudenschild, Narinder I. Heyer, Matthew M. Hims, Johnny T. Ho, Adrian M. Horgan, Katya Hoschler, Steve Hurwitz, Denis V. Ivanov, Maria Q. Johnson, Terena James, T. A. Huw Jones, Gyoung-Dong Kang, Tzvetana H. Kerelska, Alan D. Kersey, Irina Khrebtukova, Alex P. Kindwall, Zoya Kingsbury, Paula I. Kokko-Gonzales, Anil Kumar, Marc A. Laurent, Cynthia T. Lawley, Sarah E. Lee, Xavier Lee, Arnold K. Liao, Jennifer A. Loch, Mitch Lok, Shujun Luo, Radhika M. Mammen, John W. Martin, Patrick G. McCauley, Paul McNitt, Parul Mehta, Keith W. Moon, Joe W. Mullens, Taksina Newington, Zemin Ning, Bee Ling Ng, Sonia M. Novo, Michael J. O’Neill, Mark A. Osborne, Andrew Osnowski, Omead Ostadan, Lambros L. Paraschos, Lea Pickering, Andrew C. Pike, Alger C. Pike, D. Chris Pinkard, Daniel P. Pliskin, Joe Podhasky, Victor J. Quijano, Come Raczy, Vicki H. Rae, Stephen R. Rawlings, Ana Chiva Rodriguez, Phyllida M. Roe, John Rogers, Maria C. Rogert Bacigalupo, Nikolai Romanov, Anthony Romieu, Rithy K. Roth, Natalie J. Rourke, Silke T. Ruediger, Eli Rusman, Raquel M. Sanches-Kuiper, Martin R. Schenker, Josefina M. Seoane, Richard J. Shaw, Mitch K. Shiver, Steven W. Short, Ning L. Sizto, Johannes P. Sluis, Melanie A. Smith, Jean Ernest Sohna Sohna, Eric J. Spence, Kim Stevens, Neil Sutton, Lukasz Szajkowski, Carolyn L. Tregidgo, Gerardo Turcatti, Stephanie vandeVondele, Yuli Verhovsky, Selene M. Virk, Suzanne Wakelin, Gregory C. Walcott, Jingwen Wang, Graham J. Worsley, Juying Yan, Ling Yau, Mike Zuerlein, Jane Rogers, James C. Mullikin, Matthew E. Hurles, Nick J. McCooke, John S. West, Frank L. Oaks, Peter L. Lundberg, David Klenerman, Richard Durbin and Anthony J. Smith
Additional contact information
David R. Bentley: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Shankar Balasubramanian: University of Cambridge, The University Chemical Laboratory, Lensfield Road, Cambridge CB2 1EW, UK.
Harold P. Swerdlow: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Geoffrey P. Smith: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
John Milton: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Clive G. Brown: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Kevin P. Hall: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Dirk J. Evers: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Colin L. Barnes: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Helen R. Bignell: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Jonathan M. Boutell: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Jason Bryant: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Richard J. Carter: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
R. Keira Cheetham: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Anthony J. Cox: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Darren J. Ellis: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Michael R. Flatbush: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Niall A. Gormley: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Sean J. Humphray: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Leslie J. Irving: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Mirian S. Karbelashvili: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Scott M. Kirk: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Heng Li: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Xiaohai Liu: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Klaus S. Maisinger: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Lisa J. Murray: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Bojan Obradovic: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Tobias Ost: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Michael L. Parkinson: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Mark R. Pratt: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Isabelle M. J. Rasolonjatovo: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Mark T. Reed: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Roberto Rigatti: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Chiara Rodighiero: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Mark T. Ross: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Andrea Sabot: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Subramanian V. Sankar: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Aylwyn Scally: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Gary P. Schroth: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Mark E. Smith: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Vincent P. Smith: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Anastassia Spiridou: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Peta E. Torrance: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Svilen S. Tzonev: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Eric H. Vermaas: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Klaudia Walter: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Xiaolin Wu: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Lu Zhang: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Mohammed D. Alam: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Carole Anastasi: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Ify C. Aniebo: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
David M. D. Bailey: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Iain R. Bancarz: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Saibal Banerjee: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Selena G. Barbour: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Primo A. Baybayan: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Vincent A. Benoit: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Kevin F. Benson: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Claire Bevis: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Phillip J. Black: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Asha Boodhun: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Joe S. Brennan: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
John A. Bridgham: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Rob C. Brown: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Andrew A. Brown: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Dale H. Buermann: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Abass A. Bundu: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
James C. Burrows: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Nigel P. Carter: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Nestor Castillo: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Maria Chiara E. Catenazzi: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Simon Chang: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
R. Neil Cooley: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Natasha R. Crake: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Olubunmi O. Dada: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Konstantinos D. Diakoumakos: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Belen Dominguez-Fernandez: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
David J. Earnshaw: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Ugonna C. Egbujor: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
David W. Elmore: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Sergey S. Etchin: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Mark R. Ewan: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Milan Fedurco: Manteia Predictive Medicine S.A. Zone Industrielle, Coinsins, CH-1267, Switzerland.
Louise J. Fraser: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Karin V. Fuentes Fajardo: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
W. Scott Furey: University of Cambridge, The University Chemical Laboratory, Lensfield Road, Cambridge CB2 1EW, UK.
David George: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Kimberley J. Gietzen: Illumina Inc., Corporate Headquarters, 9883 Towne Centre Drive, San Diego, California 92121, USA.
Colin P. Goddard: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
George S. Golda: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Philip A. Granieri: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
David E. Green: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
David L. Gustafson: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Nancy F. Hansen: National Human Genome Research Institute, National Institutes of Health, 41 Center Drive, MSC 2132, 9000 Rockville Pike, Bethesda, Maryland 20892-2132, USA.
Kevin Harnish: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Christian D. Haudenschild: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Narinder I. Heyer: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Matthew M. Hims: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Johnny T. Ho: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Adrian M. Horgan: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Katya Hoschler: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Steve Hurwitz: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Denis V. Ivanov: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Maria Q. Johnson: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Terena James: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
T. A. Huw Jones: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Gyoung-Dong Kang: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Tzvetana H. Kerelska: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Alan D. Kersey: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Irina Khrebtukova: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Alex P. Kindwall: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Zoya Kingsbury: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Paula I. Kokko-Gonzales: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Anil Kumar: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Marc A. Laurent: Illumina Inc., Corporate Headquarters, 9883 Towne Centre Drive, San Diego, California 92121, USA.
Cynthia T. Lawley: Illumina Inc., Corporate Headquarters, 9883 Towne Centre Drive, San Diego, California 92121, USA.
Sarah E. Lee: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Xavier Lee: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Arnold K. Liao: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Jennifer A. Loch: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Mitch Lok: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Shujun Luo: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Radhika M. Mammen: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
John W. Martin: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Patrick G. McCauley: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Paul McNitt: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Parul Mehta: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Keith W. Moon: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Joe W. Mullens: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Taksina Newington: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Zemin Ning: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Bee Ling Ng: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Sonia M. Novo: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Michael J. O’Neill: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Mark A. Osborne: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Andrew Osnowski: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Omead Ostadan: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Lambros L. Paraschos: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Lea Pickering: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Andrew C. Pike: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Alger C. Pike: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
D. Chris Pinkard: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Daniel P. Pliskin: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Joe Podhasky: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Victor J. Quijano: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Come Raczy: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Vicki H. Rae: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Stephen R. Rawlings: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Ana Chiva Rodriguez: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Phyllida M. Roe: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
John Rogers: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Maria C. Rogert Bacigalupo: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Nikolai Romanov: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Anthony Romieu: Manteia Predictive Medicine S.A. Zone Industrielle, Coinsins, CH-1267, Switzerland.
Rithy K. Roth: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Natalie J. Rourke: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Silke T. Ruediger: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Eli Rusman: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Raquel M. Sanches-Kuiper: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Martin R. Schenker: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Josefina M. Seoane: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Richard J. Shaw: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Mitch K. Shiver: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Steven W. Short: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Ning L. Sizto: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Johannes P. Sluis: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Melanie A. Smith: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Jean Ernest Sohna Sohna: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Eric J. Spence: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Kim Stevens: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Neil Sutton: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Lukasz Szajkowski: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Carolyn L. Tregidgo: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Gerardo Turcatti: Manteia Predictive Medicine S.A. Zone Industrielle, Coinsins, CH-1267, Switzerland.
Stephanie vandeVondele: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Yuli Verhovsky: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Selene M. Virk: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Suzanne Wakelin: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Gregory C. Walcott: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Jingwen Wang: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Graham J. Worsley: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
Juying Yan: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Ling Yau: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Mike Zuerlein: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Jane Rogers: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
James C. Mullikin: National Human Genome Research Institute, National Institutes of Health, 41 Center Drive, MSC 2132, 9000 Rockville Pike, Bethesda, Maryland 20892-2132, USA.
Matthew E. Hurles: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Nick J. McCooke: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.
John S. West: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Frank L. Oaks: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
Peter L. Lundberg: Illumina Hayward (Formerly Solexa Inc.), 23851 Industrial Boulevard, Hayward, California 94343, USA.
David Klenerman: University of Cambridge, The University Chemical Laboratory, Lensfield Road, Cambridge CB2 1EW, UK.
Richard Durbin: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Anthony J. Smith: Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.

Nature, 2008, vol. 456, issue 7218, 53-59

Abstract: 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 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, amplified in situ and 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.

Date: 2008
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DOI: 10.1038/nature07517

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