[HTML][HTML] Genome sequencing in microfabricated high-density picolitre reactors

M Margulies, M Egholm, WE Altman, S Attiya, JS Bader… - Nature, 2005 - nature.com
M Margulies, M Egholm, WE Altman, S Attiya, JS Bader, LA Bemben, J Berka
Nature, 2005nature.com
The proliferation of large-scale DNA-sequencing projects in recent years has driven a
search for alternative methods to reduce time and cost. Here we describe a scalable, highly
parallel sequencing system with raw throughput significantly greater than that of state-of-the-
art capillary electrophoresis instruments. The apparatus uses a novel fibre-optic slide of
individual wells and is able to sequence 25 million bases, at 99% or better accuracy, in one
four-hour run. To achieve an approximately 100-fold increase in throughput over current …
Abstract
The proliferation of large-scale DNA-sequencing projects in recent years has driven a search for alternative methods to reduce time and cost. Here we describe a scalable, highly parallel sequencing system with raw throughput significantly greater than that of state-of-the-art capillary electrophoresis instruments. The apparatus uses a novel fibre-optic slide of individual wells and is able to sequence 25 million bases, at 99% or better accuracy, in one four-hour run. To achieve an approximately 100-fold increase in throughput over current Sanger sequencing technology, we have developed an emulsion method for DNA amplification and an instrument for sequencing by synthesis using a pyrosequencing protocol optimized for solid support and picolitre-scale volumes. Here we show the utility, throughput, accuracy and robustness of this system by shotgun sequencing and de novo assembly of the Mycoplasma genitalium genome with 96% coverage at 99.96% accuracy in one run of the machine.
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