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19 Emerging Technologies in DNA Sequencing

Michael L. Metzker


More than just a mapping and sequencing endeavor, the Human Genome Project (HGP) has altered the mindset and approach to many basic and applied research efforts. Early skepticism and controversy (Koshland 1989; Luria et al. 1989; Roberts 1989b; Fox et al. 1990) were soon laid to rest by well-developed strategies (Roberts 1989a; Collins and Galas 1993; Collins et al. 1998) that led to the successful execution of mankind’s largest biology project. At the core of the HGP was technology development that advanced the pace of sequencing a mammalian-size genome from years to months. Along the way, numerous strategies emerged that hold promise for rapid, efficient, and inexpensive delivery of DNA sequence information. For the HGP, a brute-force approach was adopted for completing the job by coupling the core technologies of Sanger sequencing and fluorescence detection. The completion of the sequencing phase could not have been accomplished without major innovations in recombinant protein engineering, fluorescent dye development, capillary electrophoresis, automation, robotics, informatics, and process management. The result was completion of a high-quality, reference sequence of the human genome in April, 2003 (Collins et al. 2003), marking the 50-year anniversary of the discovery of the double-helix structure. For many outside the genome community, that heroic milestone signaled the end of this international scientific project, but for the rest of us, it only marked the beginning of things to come.

The need for sequencing has never been greater than it is today, with applications spanning diverse research sectors including comparative genomics and evolution...

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