Decoding the human genome sequence

被引:12
作者
Bentley, DR [1 ]
机构
[1] Sanger Ctr, Cambridge CB10 1SA, England
关键词
D O I
10.1093/hmg/9.16.2353
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The year 2000 is marked by the production of the sequence of the human genome. A 'working draft' of high quality sequence covering 90% of the genome has been determined and a quarter is in finished form, including the first two completed chromosomes. All sequence data from the project is made freely available to the community via the Internet, for further analysis and exploitation. The challenge which lies ahead is to decipher the information. Knowledge of the human genome sequence will enable us to understand how the genetic information determines the development, structure and function of the human body. We will be able to explore how variations within our DNA sequence cause disease, how they affect our interaction with our environment and ultimately to develop new and effective ways to improve human health.
引用
收藏
页码:2353 / 2358
页数:6
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共 55 条
[11]  
COLLINS JE, 1995, NATURE, V377, P367
[12]   TOWARD A PHYSICAL MAP OF THE GENOME OF THE NEMATODE CAENORHABDITIS-ELEGANS [J].
COULSON, A ;
SULSTON, J ;
BRENNER, S ;
KARN, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (20) :7821-7825
[13]   GENOME LINKING WITH YEAST ARTIFICIAL CHROMOSOMES [J].
COULSON, A ;
WATERSTON, R ;
KIFF, J ;
SULSTON, J ;
KOHARA, Y .
NATURE, 1988, 335 (6186) :184-186
[14]   RADIATION HYBRID MAPPING - A SOMATIC-CELL GENETIC METHOD FOR CONSTRUCTING HIGH-RESOLUTION MAPS OF MAMMALIAN CHROMOSOMES [J].
COX, DR ;
BURMEISTER, M ;
PRICE, ER ;
KIM, S ;
MYERS, RM .
SCIENCE, 1990, 250 (4978) :245-250
[15]   A physical map of 30,000 human genes [J].
Deloukas, P ;
Schuler, GD ;
Gyapay, G ;
Beasley, EM ;
Soderlund, C ;
Rodriguez-Tomé, P ;
Hui, L ;
Matise, TC ;
McKusick, KB ;
Beckmann, JS ;
Bentolila, S ;
Bihoreau, MT ;
Birren, BB ;
Browne, J ;
Butler, A ;
Castle, AB ;
Chiannilkulchai, N ;
Clee, C ;
Day, PJR ;
Dehejia, A ;
Dibling, T ;
Drouot, N ;
Duprat, S ;
Fizames, C ;
Fox, S ;
Gelling, S ;
Green, L ;
Harrison, P ;
Hocking, R ;
Holloway, E ;
Hunt, S ;
Keil, S ;
Lijnzaad, P ;
Louis-Dit-Sully, C ;
Ma, J ;
Mendis, A ;
Miller, J ;
Morissette, J ;
Muselet, D ;
Nusbaum, HC ;
Peck, A ;
Rozen, S ;
Simon, D ;
Slonim, DK ;
Staples, R ;
Stein, LD ;
Stewart, EA ;
Suchard, MA ;
Thangarajah, T ;
Vega-Czarny, N .
SCIENCE, 1998, 282 (5389) :744-746
[16]   A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].
Dib, C ;
Faure, S ;
Fizames, C ;
Samson, D ;
Drouot, N ;
Vignal, A ;
Millasseau, P ;
Marc, S ;
Hazan, J ;
Seboun, E ;
Lathrop, M ;
Gyapay, G ;
Morissette, J ;
Weissenbach, J .
NATURE, 1996, 380 (6570) :152-154
[17]  
DOGGETT NA, 1995, NATURE, V377, P335
[18]   The DNA sequence of human chromosome 22 [J].
Dunham, I ;
Shimizu, N ;
Roe, BA ;
Chissoe, S ;
Dunham, I ;
Hunt, AR ;
Collins, JE ;
Bruskiewich, R ;
Beare, DM ;
Clamp, M ;
Smink, LJ ;
Ainscough, R ;
Almeida, JP ;
Babbage, A ;
Bagguley, C ;
Balley, J ;
Barlow, K ;
Bates, KN ;
Beasley, O ;
Bird, CP ;
Blakey, S ;
Bridgeman, AM ;
Buck, D ;
Burgess, J ;
Burrill, WD ;
Burton, J ;
Carder, C ;
Carter, NP ;
Chen, Y ;
Clark, G ;
Clegg, SM ;
Cobley, V ;
Cole, CG ;
Collier, RE ;
Connor, RE ;
Conroy, D ;
Corby, N ;
Coville, GJ ;
Cox, AV ;
Davis, J ;
Dawson, E ;
Dhami, PD ;
Dockree, C ;
Dodsworth, SJ ;
Durbin, RM ;
Ellington, A ;
Evans, KL ;
Fey, JM ;
Fleming, K ;
French, L .
NATURE, 1999, 402 (6761) :489-495
[19]   Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) [J].
Everett, LA ;
Glaser, B ;
Beck, JC ;
Idol, JR ;
Buchs, A ;
Heyman, M ;
Adawi, F ;
Hazani, E ;
Nassir, E ;
Baxevanis, AD ;
Sheffield, VC ;
Green, ED .
NATURE GENETICS, 1997, 17 (04) :411-422
[20]   Base-calling of automated sequencer traces using phred.: II.: Error probabilities [J].
Ewing, B ;
Green, P .
GENOME RESEARCH, 1998, 8 (03) :186-194