Illumina, Inc. unveiled a development roadmap for its Genome Analyzer system that charts a path to generate greater than 95 Gigabases of high-quality data per run. This roadmap outlined advances in chemistry, algorithms, and hardware, which will substantially improve accuracy, read length, data density, and ease of use. These developments chart a clear and demonstrable path for researchers to generate 25x coverage of a human genome for less than $10,000 in 2009, according to Illumina.
‘The demonstrated pace of innovation on the Genome Analyzer has enabled us and end-users to embark on ambitious, new whole-genome sequencing projects that will have a major impact on human health, especially cancer,’ said David Bentley, Vice President and Chief Scientist of DNA Sequencing at Illumina. ‘Currently we can generate greater than 25x coverage of a human genome in three flow cells; a year ago, more than 40 flow cells were used to complete our first African genome. By year’s end, we anticipate generating the same 25x coverage on a single flow cell bringing the cost of acquiring a human genome sequence to below $10,000.’
The current configuration of the Genome Analyzer has the potential to generate in excess of 15 Gigabases of high-quality data per run. From this baseline, the performance of the Genome Analyzer is expected to increases greater than six-fold in 2009, according to the company. The advances to achieve this increase will be commercialized in several phases throughout the year and include the following elements: chemistry advancements, including new polymerases for sequencing and cluster generation to enable faster run times and paired reads in excess of 2×100 base pairs each; hardware upgrades, including improved flow cell holder and larger reagent cooler provide an increase in output and walk-away automation for reader of at least 100 cycles; algorithm improvements, including a new approach to cluster detection, which will increase output up to 80% on high-density flow cells; and data density will increase by use of semi-ordered arrays of one micron and subsequently sub-micron features.
The combination of these advances will not only increase the output and decrease the cost of sequencing on a Genome Analyzer, but also expand the menu of applications that researchers can perform on the system, according to the company. Notably, de novo sequencing and assembly of complex genomes, already possible with the Genome Analyzer, is considerably enhanced by the capability to completely sequence DNA fragments of up to 250 base pairs using the Illumina short-insert libraries and 150 base pair reads. The ability to generate contiguous 250 base pair sequences allows researchers to use a variety of existing long read assemblers for de novo sequencing and metagenomics.
Release Date: February 4, 2009
Source: Illumina, Inc.
Filed Under: Drug Discovery