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Research Institute, Osaka Medical Center for Cancer and Cardiovascular Diseases 1-3-3 Nakamichi, Higashinari-ku, Osaka, 537-8511, Japan.
New generation sequencers have been developed with a strong impact on genomics. These sequencers are based on a principle different from the Sanger method, and can sequence one to several million templates in a single run, albeit read length is relatively small. The current large-scale efforts are: 1) complete genome sequencing of 1,000 individuals, the primary objective of which is identification of rare SNP variants, not identified by the international HapMap project; 2) large-scale sequencing of cancer genomes to construct a complete catalog of genomic changes. These sequencers are also being applied in the identification of new infectious agents. Steady increase in data production capacity and decrease of cost will definitely make the sequencers a powerful diagnostic tool, especially for screening of all genetic diseases. On the contrary, statistical problems inherent to large data sets need to be solved before application to specific problems in medical science.
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