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
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
收藏
页码:198 / 203
页数:6
相关论文
共 46 条
[21]  
Korbel JO, 2007, SCIENCE, V318, P420, DOI 10.1126/science.1149504
[22]   Initial sequencing and analysis of the human genome [J].
Lander, ES ;
Int Human Genome Sequencing Consortium ;
Linton, LM ;
Birren, B ;
Nusbaum, C ;
Zody, MC ;
Baldwin, J ;
Devon, K ;
Dewar, K ;
Doyle, M ;
FitzHugh, W ;
Funke, R ;
Gage, D ;
Harris, K ;
Heaford, A ;
Howland, J ;
Kann, L ;
Lehoczky, J ;
LeVine, R ;
McEwan, P ;
McKernan, K ;
Meldrim, J ;
Mesirov, JP ;
Miranda, C ;
Morris, W ;
Naylor, J ;
Raymond, C ;
Rosetti, M ;
Santos, R ;
Sheridan, A ;
Sougnez, C ;
Stange-Thomann, N ;
Stojanovic, N ;
Subramanian, A ;
Wyman, D ;
Rogers, J ;
Sulston, J ;
Ainscough, R ;
Beck, S ;
Bentley, D ;
Burton, J ;
Clee, C ;
Carter, N ;
Coulson, A ;
Deadman, R ;
Deloukas, P ;
Dunham, A ;
Dunham, I ;
Durbin, R ;
French, L .
NATURE, 2001, 409 (6822) :860-921
[23]  
Ley TJ, 2008, NATURE, V456, P66, DOI 10.1038/nature07485
[24]   Genome sequence, comparative analysis and haplotype structure of the domestic dog [J].
Lindblad-Toh, K ;
Wade, CM ;
Mikkelsen, TS ;
Karlsson, EK ;
Jaffe, DB ;
Kamal, M ;
Clamp, M ;
Chang, JL ;
Kulbokas, EJ ;
Zody, MC ;
Mauceli, E ;
Xie, XH ;
Breen, M ;
Wayne, RK ;
Ostrander, EA ;
Ponting, CP ;
Galibert, F ;
Smith, DR ;
deJong, PJ ;
Kirkness, E ;
Alvarez, P ;
Biagi, T ;
Brockman, W ;
Butler, J ;
Chin, CW ;
Cook, A ;
Cuff, J ;
Daly, MJ ;
DeCaprio, D ;
Gnerre, S ;
Grabherr, M ;
Kellis, M ;
Kleber, M ;
Bardeleben, C ;
Goodstadt, L ;
Heger, A ;
Hitte, C ;
Kim, L ;
Koepfli, KP ;
Parker, HG ;
Pollinger, JP ;
Searle, SMJ ;
Sutter, NB ;
Thomas, R ;
Webber, C ;
Lander, ES .
NATURE, 2005, 438 (7069) :803-819
[25]   Detection of Novel Sequences Related to African Swine Fever Virus in Human Serum and Sewage [J].
Loh, Joy ;
Zhao, Guoyan ;
Presti, Rachel M. ;
Holtz, Lori R. ;
Finkbeiner, Stacy R. ;
Droit, Lindsay ;
Villasana, Zoilmar ;
Todd, Collin ;
Pipas, James M. ;
Calgua, Byron ;
Girones, Rosina ;
Wang, David ;
Virgin, Herbert W. .
JOURNAL OF VIROLOGY, 2009, 83 (24) :13019-13025
[26]   Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy. [J].
Lupski, James R. ;
Reid, Jeffrey G. ;
Gonzaga-Jauregui, Claudia ;
Deiros, David Rio ;
Chen, David C. Y. ;
Nazareth, Lynne ;
Bainbridge, Matthew ;
Dinh, Huyen ;
Jing, Chyn ;
Wheeler, David A. ;
McGuire, Amy L. ;
Zhang, Feng ;
Stankiewicz, Pawel ;
Halperin, John J. ;
Yang, Chengyong ;
Gehman, Curtis ;
Guo, Danwei ;
Irikat, Rola K. ;
Tom, Warren ;
Fantin, Nick J. ;
Muzny, Donna M. ;
Gibbs, Richard A. .
NEW ENGLAND JOURNAL OF MEDICINE, 2010, 362 (13) :1181-1191
[27]   The $1,000 genome, the $100,000 analysis? [J].
Mardis, Elaine R. .
GENOME MEDICINE, 2010, 2
[28]   Cancer genomics identifies determinants of tumor biology [J].
Mardis, Elaine R. .
GENOME BIOLOGY, 2010, 11 (05)
[29]   New strategies and emerging technologies for massively parallel sequencing: applications in medical research [J].
Mardis, Elaine R. .
GENOME MEDICINE, 2009, 1
[30]   APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation [J].
Metzker, Michael L. .
NATURE REVIEWS GENETICS, 2010, 11 (01) :31-46