A decade's perspective on DNA sequencing technology

被引：553

作者：

Mardis, Elaine R. ^{[1
]}

机构：

[1] Washington Univ, Sch Med, Dept Genet, Genome Ctr, St Louis, MO 63108 USA

来源：

NATURE | 2011年 / 470卷 / 7333期

关键词：

HUMAN GENOME; STRUCTURAL VARIATION; COPY NUMBER; COLORECTAL CANCERS; HAPLOTYPE MAP; HUMAN BREAST; EVOLUTION; INHIBITORS; MUTATIONS; INSIGHTS;

D O I：

10.1038/nature09796

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The decade since the Human Genome Project ended has witnessed a remarkable sequencing technology explosion that has permitted a multitude of questions about the genome to be asked and answered, at unprecedented speed and resolution. Here I present examples of how the resulting information has both enhanced our knowledge and expanded the impact of the genome on biomedical research. New sequencing technologies have also introduced exciting new areas of biological endeavour. The continuing upward trajectory of sequencing technology development is enabling clinical applications that are aimed at improving medical diagnosis and treatment.

引用

页码：198 / 203

页数：6

共 46 条

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Finkbeiner, Stacy R. ;

Li, Yan ;

Ruone, Susan ;

Conrardy, Christina ;

Gregoricus, Nicole ;

Toney, Denise ;

Virgin, Herbert W. ;

Anderson, Larry J. ;

Vinje, Jan ;

Wang, David ;

Tong, Suxiang .

JOURNAL OF VIROLOGY, 2009, 83 (20) :10836-10839

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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 .

NATURE, 2007, 449 (7164) :851-U3

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Gibbs, RA ;

Weinstock, GM ;

Metzker, ML ;

Muzny, DM ;

Sodergren, EJ ;

Scherer, S ;

Scott, G ;

Steffen, D ;

Worley, KC ;

Burch, PE ;

Okwuonu, G ;

Hines, S ;

Lewis, L ;

DeRamo, C ;

Delgado, O ;

Dugan-Rocha, S ;

Miner, G ;

Morgan, M ;

Hawes, A ;

Gill, R ;

Holt, RA ;

Adams, MD ;

Amanatides, PG ;

Baden-Tillson, H ;

Barnstead, M ;

Chin, S ;

Evans, CA ;

Ferriera, S ;

Fosler, C ;

Glodek, A ;

Gu, ZP ;

Jennings, D ;

Kraft, CL ;

Nguyen, T ;

Pfannkoch, CM ;

Sitter, C ;

Sutton, GG ;

Venter, JC ;

Woodage, T ;

Smith, D ;

Lee, HM ;

Gustafson, E ;

Cahill, P ;

Kana, A ;

Doucette-Stamm, L ;

Weinstock, K ;

Fechtel, K ;

Weiss, RB ;

Dunn, DM ;

Green, ED .

NATURE, 2004, 428 (6982) :493-521

[14] The International HapMap Project [J].

Gibbs, RA ;

Belmont, JW ;

Hardenbol, P ;

Willis, TD ;

Yu, FL ;

Yang, HM ;

Ch'ang, LY ;

Huang, W ;

Liu, B ;

Shen, Y ;

Tam, PKH ;

Tsui, LC ;

Waye, MMY ;

Wong, JTF ;

Zeng, CQ ;

Zhang, QR ;

Chee, MS ;

Galver, LM ;

Kruglyak, S ;

Murray, SS ;

Oliphant, AR ;

Montpetit, A ;

Hudson, TJ ;

Chagnon, F ;

Ferretti, V ;

Leboeuf, M ;

Phillips, MS ;

Verner, A ;

Kwok, PY ;

Duan, SH ;

Lind, DL ;

Miller, RD ;

Rice, JP ;

Saccone, NL ;

Taillon-Miller, P ;

Xiao, M ;

Nakamura, Y ;

Sekine, A ;

Sorimachi, K ;

Tanaka, T ;

Tanaka, Y ;

Tsunoda, T ;

Yoshino, E ;

Bentley, DR ;

Deloukas, P ;

Hunt, S ;

Powell, D ;

Altshuler, D ;

Gabriel, SB ;

Qiu, RZ .

NATURE, 2003, 426 (6968) :789-796

[15] Evolutionary and biomedical insights from the rhesus macaque genome [J].

Gibbs, Richard A. ;

Rogers, Jeffrey ;

Katze, Michael G. ;

Bumgarner, Roger ;

Weinstock, George M. ;

Mardis, Elaine R. ;

Remington, Karin A. ;

Strausberg, Robert L. ;

Venter, J. Craig ;

Wilson, Richard K. ;

Batzer, Mark A. ;

Bustamante, Carlos D. ;

Eichler, Evan E. ;

Hahn, Matthew W. ;

Hardison, Ross C. ;

Makova, Kateryna D. ;

Miller, Webb ;

Milosavljevic, Aleksandar ;

Palermo, Robert E. ;

Siepel, Adam ;

Sikela, James M. ;

Attaway, Tony ;

Bell, Stephanie ;

Bernard, Kelly E. ;

Buhay, Christian J. ;

Chandrabose, Mimi N. ;

Dao, Marvin ;

Davis, Clay ;

Delehaunty, Kimberly D. ;

Ding, Yan ;

Dinh, Huyen H. ;

Dugan-Rocha, Shannon ;

Fulton, Lucinda A. ;

Gabisi, Ramatu Ayiesha ;

Garner, Toni T. ;

Godfrey, Jennifer ;

Hawes, Alicia C. ;

Hernandez, Judith ;

Hines, Sandra ;

Holder, Michael ;

Hume, Jennifer ;

Jhangiani, Shalini N. ;

Joshi, Vandita ;

Khan, Ziad Mohid ;

Kirkness, Ewen F. ;

Cree, Andrew ;

Fowler, R. Gerald ;

Lee, Sandra ;

Lewis, Lora R. ;

Li, Zhangwan .

SCIENCE, 2007, 316 (5822) :222-234

[16] Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome [J].

Gilissen, Christian ;

Arts, Heleen H. ;

Hoischen, Alexander ;

Spruijt, Liesbeth ;

Mans, Dorus A. ;

Arts, Peer ;

van Lier, Bart ;

Steehouwer, Marloes ;

van Reeuwijk, Jeroen ;

Kant, Sarina G. ;

Roepman, Ronald ;

Knoers, Nine V. A. M. ;

Veltman, Joris A. ;

Brunner, Han G. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (03) :418-423

[17] Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level [J].

Harismendy, Olivier ;

Bansal, Vikas ;

Bhatia, Gaurav ;

Nakano, Masakazu ;

Scott, Michael ;

Wang, Xiaoyun ;

Dib, Colette ;

Turlotte, Edouard ;

Sipe, Jack C. ;

Murray, Sarah S. ;

Deleuze, Jean Francois ;

Bafna, Vineet ;

Topol, Eric J. ;

Frazer, Kelly A. .

GENOME BIOLOGY, 2010, 11 (11)

[18] Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution [J].

Hillier, LW ;

Miller, W ;

Birney, E ;

Warren, W ;

Hardison, RC ;

Ponting, CP ;

Bork, P ;

Burt, DW ;

Groenen, MAM ;

Delany, ME ;

Dodgson, JB ;

Chinwalla, AT ;

Cliften, PF ;

Clifton, SW ;

Delehaunty, KD ;

Fronick, C ;

Fulton, RS ;

Graves, TA ;

Kremitzki, C ;

Layman, D ;

Magrini, V ;

McPherson, JD ;

Miner, TL ;

Minx, P ;

Nash, WE ;

Nhan, MN ;

Nelson, JO ;

Oddy, LG ;

Pohl, CS ;

Randall-Maher, J ;

Smith, SM ;

Wallis, JW ;

Yang, SP ;

Romanov, MN ;

Rondelli, CM ;

Paton, B ;

Smith, J ;

Morrice, D ;

Daniels, L ;

Tempest, HG ;

Robertson, L ;

Masabanda, JS ;

Griffin, DK ;

Vignal, A ;

Fillon, V ;

Jacobbson, L ;

Kerje, S ;

Andersson, L ;

Crooijmans, RPM ;

Aerts, J .

NATURE, 2004, 432 (7018) :695-716

[19] Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors [J].

Jones, Steven J. M. ;

Laskin, Janessa ;

Li, Yvonne Y. ;

Griffith, Obi L. ;

An, Jianghong ;

Bilenky, Mikhail ;

Butterfield, Yaron S. ;

Cezard, Timothee ;

Chuah, Eric ;

Corbett, Richard ;

Fejes, Anthony P. ;

Griffith, Malachi ;

Yee, John ;

Martin, Montgomery ;

Mayo, Michael ;

Melnyk, Nataliya ;

Morin, Ryan D. ;

Pugh, Trevor J. ;

Severson, Tesa ;

Shah, Sohrab P. ;

Sutcliffe, Margaret ;

Tam, Angela ;

Terry, Jefferson ;

Thiessen, Nina ;

Thomson, Thomas ;

Varhol, Richard ;

Zeng, Thomas ;

Zhao, Yongjun ;

Moore, Richard A. ;

Huntsman, David G. ;

Birol, Inanc ;

Hirst, Martin ;

Holt, Robert A. ;

Marra, Marco A. .

GENOME BIOLOGY, 2010, 11 (08) :R82

[20] Mapping and sequencing of structural variation from eight human genomes (Reprinted from Nature, vol 453, pg 56-64, 2008) [J].

Kidd, Jeffrey M. ;

Cooper, Gregory M. ;

Donahue, William F. ;

Hayden, Hillary S. ;

Sampas, Nick ;

Graves, Tina ;

Hansen, Nancy ;

Teague, Brian ;

Alkan, Can ;

Antonacci, Francesca ;

Haugen, Eric ;

Zerr, Troy ;

Yamada, N. Alice ;

Tsang, Peter ;

Newman, Tera L. ;

Tuzun, Eray ;

Cheng, Ze ;

Ebling, Heather M. ;

Tusneem, Nadeem ;

David, Robert ;

Gillett, Will ;

Phelps, Karen A. ;

Weaver, Molly ;

Saranga, David ;

Brand, Adrianne ;

Tao, Wei ;

Gustafson, Erik ;

McKernan, Kevin ;

Chen, Lin ;

Malig, Maika ;

Smith, Joshua D. ;

Korn, Joshua M. ;

McCarroll, Steven A. ;

Altshuler, David A. ;

Peiffer, Daniel A. ;

Dorschner, Michael ;

Stamatoyannopoulos, John ;

Schwartz, David ;

Nickerson, Deborah A. ;

Mullikin, James C. ;

Wilson, Richard K. ;

Bruhn, Laurakay ;

Olson, Maynard V. ;

Kaul, Rajinder ;

Smith, Douglas R. ;

Eichler, Evan E. .

NATURE GENETICS, 2009, :S22-S30

← 1 2 3 4 5 →

共 46 条

[11] Identification of a Novel Astrovirus (Astrovirus VA1) Associated with an Outbreak of Acute Gastroenteritis [J].

Finkbeiner, Stacy R. ;

Li, Yan ;

Ruone, Susan ;

Conrardy, Christina ;

Gregoricus, Nicole ;

Toney, Denise ;

Virgin, Herbert W. ;

Anderson, Larry J. ;

Vinje, Jan ;

Wang, David ;

Tong, Suxiang .

JOURNAL OF VIROLOGY, 2009, 83 (20) :10836-10839

[12] A second generation human haplotype map of over 3.1 million SNPs [J].

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 .

NATURE, 2007, 449 (7164) :851-U3

[13] Genome sequence of the Brown Norway rat yields insights into mammalian evolution [J].

Gibbs, RA ;

Weinstock, GM ;

Metzker, ML ;

Muzny, DM ;

Sodergren, EJ ;

Scherer, S ;

Scott, G ;

Steffen, D ;

Worley, KC ;

Burch, PE ;

Okwuonu, G ;

Hines, S ;

Lewis, L ;

DeRamo, C ;

Delgado, O ;

Dugan-Rocha, S ;

Miner, G ;

Morgan, M ;

Hawes, A ;

Gill, R ;

Holt, RA ;

Adams, MD ;

Amanatides, PG ;

Baden-Tillson, H ;

Barnstead, M ;

Chin, S ;

Evans, CA ;

Ferriera, S ;

Fosler, C ;

Glodek, A ;

Gu, ZP ;

Jennings, D ;

Kraft, CL ;

Nguyen, T ;

Pfannkoch, CM ;

Sitter, C ;

Sutton, GG ;

Venter, JC ;

Woodage, T ;

Smith, D ;

Lee, HM ;

Gustafson, E ;

Cahill, P ;

Kana, A ;

Doucette-Stamm, L ;

Weinstock, K ;

Fechtel, K ;

Weiss, RB ;

Dunn, DM ;

Green, ED .

NATURE, 2004, 428 (6982) :493-521

[14] The International HapMap Project [J].

Gibbs, RA ;

Belmont, JW ;

Hardenbol, P ;

Willis, TD ;

Yu, FL ;

Yang, HM ;

Ch'ang, LY ;

Huang, W ;

Liu, B ;

Shen, Y ;

Tam, PKH ;

Tsui, LC ;

Waye, MMY ;

Wong, JTF ;

Zeng, CQ ;

Zhang, QR ;

Chee, MS ;

Galver, LM ;

Kruglyak, S ;

Murray, SS ;

Oliphant, AR ;

Montpetit, A ;

Hudson, TJ ;

Chagnon, F ;

Ferretti, V ;

Leboeuf, M ;

Phillips, MS ;

Verner, A ;

Kwok, PY ;

Duan, SH ;

Lind, DL ;

Miller, RD ;

Rice, JP ;

Saccone, NL ;

Taillon-Miller, P ;

Xiao, M ;

Nakamura, Y ;

Sekine, A ;

Sorimachi, K ;

Tanaka, T ;

Tanaka, Y ;

Tsunoda, T ;

Yoshino, E ;

Bentley, DR ;

Deloukas, P ;

Hunt, S ;

Powell, D ;

Altshuler, D ;

Gabriel, SB ;

Qiu, RZ .

NATURE, 2003, 426 (6968) :789-796

[15] Evolutionary and biomedical insights from the rhesus macaque genome [J].

Gibbs, Richard A. ;

Rogers, Jeffrey ;

Katze, Michael G. ;

Bumgarner, Roger ;

Weinstock, George M. ;

Mardis, Elaine R. ;

Remington, Karin A. ;

Strausberg, Robert L. ;

Venter, J. Craig ;

Wilson, Richard K. ;

Batzer, Mark A. ;

Bustamante, Carlos D. ;

Eichler, Evan E. ;

Hahn, Matthew W. ;

Hardison, Ross C. ;

Makova, Kateryna D. ;

Miller, Webb ;

Milosavljevic, Aleksandar ;

Palermo, Robert E. ;

Siepel, Adam ;

Sikela, James M. ;

Attaway, Tony ;

Bell, Stephanie ;

Bernard, Kelly E. ;

Buhay, Christian J. ;

Chandrabose, Mimi N. ;

Dao, Marvin ;

Davis, Clay ;

Delehaunty, Kimberly D. ;

Ding, Yan ;

Dinh, Huyen H. ;

Dugan-Rocha, Shannon ;

Fulton, Lucinda A. ;

Gabisi, Ramatu Ayiesha ;

Garner, Toni T. ;

Godfrey, Jennifer ;

Hawes, Alicia C. ;

Hernandez, Judith ;

Hines, Sandra ;

Holder, Michael ;

Hume, Jennifer ;

Jhangiani, Shalini N. ;

Joshi, Vandita ;

Khan, Ziad Mohid ;

Kirkness, Ewen F. ;

Cree, Andrew ;

Fowler, R. Gerald ;

Lee, Sandra ;

Lewis, Lora R. ;

Li, Zhangwan .

SCIENCE, 2007, 316 (5822) :222-234

[16] Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome [J].

Gilissen, Christian ;

Arts, Heleen H. ;

Hoischen, Alexander ;

Spruijt, Liesbeth ;

Mans, Dorus A. ;

Arts, Peer ;

van Lier, Bart ;

Steehouwer, Marloes ;

van Reeuwijk, Jeroen ;

Kant, Sarina G. ;

Roepman, Ronald ;

Knoers, Nine V. A. M. ;

Veltman, Joris A. ;

Brunner, Han G. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (03) :418-423

[17] Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level [J].

Harismendy, Olivier ;

Bansal, Vikas ;

Bhatia, Gaurav ;

Nakano, Masakazu ;

Scott, Michael ;

Wang, Xiaoyun ;

Dib, Colette ;

Turlotte, Edouard ;

Sipe, Jack C. ;

Murray, Sarah S. ;

Deleuze, Jean Francois ;

Bafna, Vineet ;

Topol, Eric J. ;

Frazer, Kelly A. .

GENOME BIOLOGY, 2010, 11 (11)

[18] Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution [J].

Hillier, LW ;

Miller, W ;

Birney, E ;

Warren, W ;

Hardison, RC ;

Ponting, CP ;

Bork, P ;

Burt, DW ;

Groenen, MAM ;

Delany, ME ;

Dodgson, JB ;

Chinwalla, AT ;

Cliften, PF ;

Clifton, SW ;

Delehaunty, KD ;

Fronick, C ;

Fulton, RS ;

Graves, TA ;

Kremitzki, C ;

Layman, D ;

Magrini, V ;

McPherson, JD ;

Miner, TL ;

Minx, P ;

Nash, WE ;

Nhan, MN ;

Nelson, JO ;

Oddy, LG ;

Pohl, CS ;

Randall-Maher, J ;

Smith, SM ;

Wallis, JW ;

Yang, SP ;

Romanov, MN ;

Rondelli, CM ;

Paton, B ;

Smith, J ;

Morrice, D ;

Daniels, L ;

Tempest, HG ;

Robertson, L ;

Masabanda, JS ;

Griffin, DK ;

Vignal, A ;

Fillon, V ;

Jacobbson, L ;

Kerje, S ;

Andersson, L ;

Crooijmans, RPM ;

Aerts, J .

NATURE, 2004, 432 (7018) :695-716

[19] Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors [J].

Jones, Steven J. M. ;

Laskin, Janessa ;

Li, Yvonne Y. ;

Griffith, Obi L. ;

An, Jianghong ;

Bilenky, Mikhail ;

Butterfield, Yaron S. ;

Cezard, Timothee ;

Chuah, Eric ;

Corbett, Richard ;

Fejes, Anthony P. ;

Griffith, Malachi ;

Yee, John ;

Martin, Montgomery ;

Mayo, Michael ;

Melnyk, Nataliya ;

Morin, Ryan D. ;

Pugh, Trevor J. ;

Severson, Tesa ;

Shah, Sohrab P. ;

Sutcliffe, Margaret ;

Tam, Angela ;

Terry, Jefferson ;

Thiessen, Nina ;

Thomson, Thomas ;

Varhol, Richard ;

Zeng, Thomas ;

Zhao, Yongjun ;

Moore, Richard A. ;

Huntsman, David G. ;

Birol, Inanc ;

Hirst, Martin ;

Holt, Robert A. ;

Marra, Marco A. .

GENOME BIOLOGY, 2010, 11 (08) :R82

[20] Mapping and sequencing of structural variation from eight human genomes (Reprinted from Nature, vol 453, pg 56-64, 2008) [J].

Kidd, Jeffrey M. ;

Cooper, Gregory M. ;

Donahue, William F. ;

Hayden, Hillary S. ;

Sampas, Nick ;

Graves, Tina ;

Hansen, Nancy ;

Teague, Brian ;

Alkan, Can ;

Antonacci, Francesca ;

Haugen, Eric ;

Zerr, Troy ;

Yamada, N. Alice ;

Tsang, Peter ;

Newman, Tera L. ;

Tuzun, Eray ;

Cheng, Ze ;

Ebling, Heather M. ;

Tusneem, Nadeem ;

David, Robert ;

Gillett, Will ;

Phelps, Karen A. ;

Weaver, Molly ;

Saranga, David ;

Brand, Adrianne ;

Tao, Wei ;

Gustafson, Erik ;

McKernan, Kevin ;

Chen, Lin ;

Malig, Maika ;

Smith, Joshua D. ;

Korn, Joshua M. ;

McCarroll, Steven A. ;

Altshuler, David A. ;

Peiffer, Daniel A. ;

Dorschner, Michael ;

Stamatoyannopoulos, John ;

Schwartz, David ;

Nickerson, Deborah A. ;

Mullikin, James C. ;

Wilson, Richard K. ;

Bruhn, Laurakay ;

Olson, Maynard V. ;

Kaul, Rajinder ;

Smith, Douglas R. ;

Eichler, Evan E. .

NATURE GENETICS, 2009, :S22-S30

← 1 2 3 4 5 →