A decade's perspective on DNA sequencing technology

被引:544
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
  • [1] Personalized copy number and segmental duplication maps using next-generation sequencing
    Alkan, Can
    Kidd, Jeffrey M.
    Marques-Bonet, Tomas
    Aksay, Gozde
    Antonacci, Francesca
    Hormozdiari, Fereydoun
    Kitzman, Jacob O.
    Baker, Carl
    Malig, Maika
    Mutlu, Onur
    Sahinalp, S. Cenk
    Gibbs, Richard A.
    Eichler, Evan E.
    [J]. NATURE GENETICS, 2009, 41 (10) : 1061 - U29
  • [2] A haplotype map of the human genome
    Altshuler, D
    Brooks, LD
    Chakravarti, A
    Collins, FS
    Daly, MJ
    Donnelly, P
    Gibbs, RA
    Belmont, JW
    Boudreau, A
    Leal, SM
    Hardenbol, P
    Pasternak, S
    Wheeler, DA
    Willis, TD
    Yu, FL
    Yang, HM
    Zeng, CQ
    Gao, Y
    Hu, HR
    Hu, WT
    Li, CH
    Lin, W
    Liu, SQ
    Pan, H
    Tang, XL
    Wang, J
    Wang, W
    Yu, J
    Zhang, B
    Zhang, QR
    Zhao, HB
    Zhao, H
    Zhou, J
    Gabriel, SB
    Barry, R
    Blumenstiel, B
    Camargo, A
    Defelice, M
    Faggart, M
    Goyette, M
    Gupta, S
    Moore, J
    Nguyen, H
    Onofrio, RC
    Parkin, M
    Roy, J
    Stahl, E
    Winchester, E
    Ziaugra, L
    Shen, Y
    [J]. NATURE, 2005, 437 (7063) : 1299 - 1320
  • [3] A map of human genome variation from population-scale sequencing
    Altshuler, David
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Collins, Francis S.
    De la Vega, Francisco M.
    Donnelly, Peter
    Egholm, Michael
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Knoppers, Bartha M.
    Lander, Eric S.
    Lehrach, Hans
    Mardis, Elaine R.
    McVean, Gil A.
    Nickerson, DebbieA.
    Peltonen, Leena
    Schafer, Alan J.
    Sherry, Stephen T.
    Wang, Jun
    Wilson, Richard K.
    Gibbs, Richard A.
    Deiros, David
    Metzker, Mike
    Muzny, Donna
    Reid, Jeff
    Wheeler, David
    Wang, Jun
    Li, Jingxiang
    Jian, Min
    Li, Guoqing
    Li, Ruiqiang
    Liang, Huiqing
    Tian, Geng
    Wang, Bo
    Wang, Jian
    Wang, Wei
    Yang, Huanming
    Zhang, Xiuqing
    Zheng, Huisong
    Lander, Eric S.
    Altshuler, David L.
    Ambrogio, Lauren
    Bloom, Toby
    Cibulskis, Kristian
    Fennell, Tim J.
    Gabriel, Stacey B.
    [J]. NATURE, 2010, 467 (7319) : 1061 - 1073
  • [4] Integrating common and rare genetic variation in diverse human populations
    Altshuler, David M.
    Gibbs, Richard A.
    Peltonen, Leena
    Dermitzakis, Emmanouil
    Schaffner, Stephen F.
    Yu, Fuli
    Bonnen, Penelope E.
    de Bakker, Paul I. W.
    Deloukas, Panos
    Gabriel, Stacey B.
    Gwilliam, Rhian
    Hunt, Sarah
    Inouye, Michael
    Jia, Xiaoming
    Palotie, Aarno
    Parkin, Melissa
    Whittaker, Pamela
    Chang, Kyle
    Hawes, Alicia
    Lewis, Lora R.
    Ren, Yanru
    Wheeler, David
    Muzny, Donna Marie
    Barnes, Chris
    Darvishi, Katayoon
    Hurles, Matthew
    Korn, Joshua M.
    Kristiansson, Kati
    Lee, Charles
    McCarroll, Steven A.
    Nemesh, James
    Keinan, Alon
    Montgomery, Stephen B.
    Pollack, Samuela
    Price, Alkes L.
    Soranzo, Nicole
    Gonzaga-Jauregui, Claudia
    Anttila, Verneri
    Brodeur, Wendy
    Daly, Mark J.
    Leslie, Stephen
    McVean, Gil
    Moutsianas, Loukas
    Nguyen, Huy
    Zhang, Qingrun
    Ghori, Mohammed J. R.
    McGinnis, Ralph
    McLaren, William
    Takeuchi, Fumihiko
    Grossman, Sharon R.
    [J]. NATURE, 2010, 467 (7311) : 52 - 58
  • [5] Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
    Birney, Ewan
    Stamatoyannopoulos, John A.
    Dutta, Anindya
    Guigo, Roderic
    Gingeras, Thomas R.
    Margulies, Elliott H.
    Weng, Zhiping
    Snyder, Michael
    Dermitzakis, Emmanouil T.
    Stamatoyannopoulos, John A.
    Thurman, Robert E.
    Kuehn, Michael S.
    Taylor, Christopher M.
    Neph, Shane
    Koch, Christoph M.
    Asthana, Saurabh
    Malhotra, Ankit
    Adzhubei, Ivan
    Greenbaum, Jason A.
    Andrews, Robert M.
    Flicek, Paul
    Boyle, Patrick J.
    Cao, Hua
    Carter, Nigel P.
    Clelland, Gayle K.
    Davis, Sean
    Day, Nathan
    Dhami, Pawandeep
    Dillon, Shane C.
    Dorschner, Michael O.
    Fiegler, Heike
    Giresi, Paul G.
    Goldy, Jeff
    Hawrylycz, Michael
    Haydock, Andrew
    Humbert, Richard
    James, Keith D.
    Johnson, Brett E.
    Johnson, Ericka M.
    Frum, Tristan T.
    Rosenzweig, Elizabeth R.
    Karnani, Neerja
    Lee, Kirsten
    Lefebvre, Gregory C.
    Navas, Patrick A.
    Neri, Fidencio
    Parker, Stephen C. J.
    Sabo, Peter J.
    Sandstrom, Richard
    Shafer, Anthony
    [J]. NATURE, 2007, 447 (7146) : 799 - 816
  • [6] Chen K, 2009, NAT METHODS, V6, P677, DOI [10.1038/NMETH.1363, 10.1038/nmeth.1363]
  • [7] The Origin of the Haitian Cholera Outbreak Strain.
    Chin, Chen-Shan
    Sorenson, Jon
    Harris, Jason B.
    Robins, William P.
    Charles, Richelle C.
    Jean-Charles, Roger R.
    Bullard, James
    Webster, Dale R.
    Kasarskis, Andrew
    Peluso, Paul
    Paxinos, Ellen E.
    Yamaichi, Yoshiharu
    Calderwood, Stephen B.
    Mekalanos, John J.
    Schadt, Eric E.
    Waldor, Matthew K.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (01) : 33 - 42
  • [8] Finishing the euchromatic sequence of the human genome
    Collins, FS
    Lander, ES
    Rogers, J
    Waterston, RH
    [J]. NATURE, 2004, 431 (7011) : 931 - 945
  • [9] Origins and functional impact of copy number variation in the human genome
    Conrad, Donald F.
    Pinto, Dalila
    Redon, Richard
    Feuk, Lars
    Gokcumen, Omer
    Zhang, Yujun
    Aerts, Jan
    Andrews, T. Daniel
    Barnes, Chris
    Campbell, Peter
    Fitzgerald, Tomas
    Hu, Min
    Ihm, Chun Hwa
    Kristiansson, Kati
    MacArthur, Daniel G.
    MacDonald, Jeffrey R.
    Onyiah, Ifejinelo
    Pang, Andy Wing Chun
    Robson, Sam
    Stirrups, Kathy
    Valsesia, Armand
    Walter, Klaudia
    Wei, John
    Tyler-Smith, Chris
    Carter, Nigel P.
    Lee, Charles
    Scherer, Stephen W.
    Hurles, Matthew E.
    [J]. NATURE, 2010, 464 (7289) : 704 - 712
  • [10] The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution
    Elsik, Christine G.
    Tellam, Ross L.
    Worley, Kim C.
    Gibbs, Richard A.
    Abatepaulo, Antonio R. R.
    Abbey, Colette A.
    Adelson, David L.
    Aerts, Jan
    Ahola, Virpi
    Alexander, Lee
    Alioto, Tyler
    Almeida, Iassudara G.
    Amadio, Ariel F.
    Anatriello, Elen
    Antonarakis, Stylianos E.
    Anzola, Juan M.
    Astashyn, Alex
    Bahadue, Suria M.
    Baldwin, Cynthia L.
    Barris, Wes
    Baxter, Rebecca
    Bell, Stephanie Nicole
    Bennett, Anna K.
    Bennett, Gary L.
    Biase, Fernando H.
    Boldt, Clayton R.
    Bradley, Daniel G.
    Brinkman, Fiona S. L.
    Brinkmeyer-Langford, Candice L.
    Brown, Wendy C.
    Brownstein, Michael J.
    Buhay, Christian
    Caetano, Alexandre R.
    Camara, Francisco
    Carroll, Jeffrey A.
    Carvalho, Wanessa A.
    Casey, Theresa
    Cervelatti, Elaine P.
    Chack, Joseph
    Chacko, Elsa
    Chandrabose, Mimi M.
    Chapin, Jennifer E.
    Chapple, Charles E.
    Chen, Hsiu-Chuan
    Chen, Lin
    Cheng, Ye
    Cheng, Ze
    Childers, Christopher P.
    Chitko-McKown, Carol G.
    Chiu, Readman
    [J]. SCIENCE, 2009, 324 (5926) : 522 - 528