Ion Torrent's Personal Genome Machine coupled with Fluidigm's Access Array Provides a Multiplexed Sample Approach to Rapid Evaluation of Novel Genomic Targets.

A multiplexed approach to sample processing is essential to maximize data return of a single run on a next generation sequencing platform. The ability to process hundreds of samples per day will undoubtedly lead to faster discovery of underlying genetic markers for many of today's current diseases. Ion Torrent has invented the first device capable of directly translating chemical signals into digital information. The first application of this paradigm-changing technology is sequencing DNA on Ion's semiconductor sequencing device. The device leverages decades of semiconductor technology advances, and in just a few years has brought the entire design, fabrication and supply chain infrastructure of that industry-a trillion dollar investment-to bear on the challenge of sequencing. The result is the first commercial sequencing technology that does not use light-The Personal Genome Machine, Ion's novel sequencer delivers unprecedented speed, scalability and low cost. With the increased speed (2 hour runtime) and accuracy provided by the PGM, we have leveraged our existing multiplexed sample approach using the Access Array from Fluidigm to amplify 48 samples across 1 to 48 amplicons, depending on the experiment in question. The ability to generate genomic information for 48 samples under 2 hours using the PGM is critical to quickly confirm whether or not a particular novel discovery observed through whole genome or exome evaluation is the “hit” you are looking for. For our initial experiments, we used amplicons from exons of p53 to demonstrate we could evaluate and differentiate known genetic markers between individual samples within a pool of barcoded samples. Using the Ion Torrent 314 chips, we ran a series of chips that included chips with a single sample up to chips with 48 samples.