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Semiconductor Device Shows Accurate Genome Sequencing

Complementary metal-oxide semiconductor technology sequences bacterial, human genome

THURSDAY, July 21 (HealthDay News) -- The use of complementary metal-oxide semiconductor (CMOS) technology allows for more scalable methods of DNA sequencing of bacterial and human genomes, according to a study published in the July 21 issue of Nature.

Jonathan M. Rothberg, Ph.D., from Ion Torrent by Life Technologies in Guilford, Conn., and colleagues evaluated a DNA sequencing technology using an integrated ion chip circuit capable of performing non-optical genome sequences to sequence three bacterial genomes. To illustrate the scalability of the semiconductor technology, a human genome was also sequenced, and the accuracy of analysis and validity of heterozygous and homozygous genotypes was confirmed using Applied Biosystems (ABI) sequencing by oligonucleotide ligation and detection (SOLiD) to 15-fold coverage.

The investigators found that use of CMOS technology for constructing integrated circuits allows for low-cost, large-scale production and the scaling of the device to higher densities and larger array sizes. The investigators sequenced all three bacterial genomes five-fold to ten-fold in individual runs using the small ion chip, covering 96.80 to 99.99 percent of each genome, with genome-wide consensus accuracies as high as 99.99 percent. In the human genome, 2,598,983 single nucleotide polymorphisms were found, of which 3.08 percent were found to be novel, which was consistent with previous reports. Using ABO SOLiD sequencing, 99.95 percent of the heterozygous genotypes and 99.97 percent of the homozygous genotypes were validated.

"We have demonstrated the ability to produce and use a disposable integrated circuit fabricated in standard CMOS foundries to perform, for the first time, 'post-light' genome sequencing of bacterial and human genomes," the authors write.

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