Nucleic Acids Research Advance Access published online on September 12, 2007
Nucleic Acids Research, doi:10.1093/nar/gkm688
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Survey and Summary |
DNA sequencing: bench to bedside and beyond
J. Craig Venter Institute, 9704 Medical Center Drive, Rockville, MD 20850, USA
*To whom correspondence should be addressed. Tel: +1 301 795 7306; Fax: +1 240 268 4004; Email: chutchison{at}jcvi.org
Received June 30, 2007. Revised August 21, 2007. Accepted August 21, 2007.
Fifteen years elapsed between the discovery of the double helix (1953) and the first DNA sequencing (1968). Modern DNA sequencing began in 1977, with development of the chemical method of Maxam and Gilbert and the dideoxy method of Sanger, Nicklen and Coulson, and with the first complete DNA sequence (phage 
X174), which demonstrated that sequence could give profound insights into genetic organization. Incremental improvements allowed sequencing of molecules >200 kb (human cytomegalovirus) leading to an avalanche of data that demanded computational analysis and spawned the field of bioinformatics. The US Human Genome Project spurred sequencing activity. By 1992 the first ‘sequencing factory’ was established, and others soon followed. The first complete cellular genome sequences, from bacteria, appeared in 1995 and other eubacterial, archaebacterial and eukaryotic genomes were soon sequenced. Competition between the public Human Genome Project and Celera Genomics produced working drafts of the human genome sequence, published in 2001, but refinement and analysis of the human genome sequence will continue for the foreseeable future. New ‘massively parallel’ sequencing methods are greatly increasing sequencing capacity, but further innovations are needed to achieve the ‘thousand dollar genome’ that many feel is prerequisite to personalized genomic medicine. These advances will also allow new approaches to a variety of problems in biology, evolution and the environment.
A paper by Levy, S., Sutton, G., Ng, P.C., Feuk, L., Halpern, A.L., et al. titled ‘The Diploid Genome Sequence of an Individual Human’ appeared in PLoS Biology Vol. 5, No. 10, e254 doi:10.1371/journal.pbio.0050254 since the acceptance of this article. That paper reports the diploid genome sequence of J. Craig Venter.
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