MiSeq™, Illumina’s new low-cost personal sequencing system, leverages the same TruSeq™ sequencing chemistry that drives the company’s flagship HiSeq™ platform. MiSeq can take purified DNA and generate analyzed sequence data in about eight hours and, in just over a day’s time produce more than one gigabase at a cost of $400–$750 per run. Illumina plans to ship the first commercial MiSeq units this summer.
Key advantages of MiSeq are its fast turnaround time, ease of use, and simple sample prep, said David Bentley, Ph.D. Dr. Bentley, chief scientist at Illumina, envisions customers using the system for various types of applications: to check a small amount of sample before running it on HiSeq, to analyze large numbers of poor-quality DNA samples isolated from FFPE tissues, and to detect specific mutations in patient samples from clinical trial populations.
Illumina has doubled the yield from the HiSeq system to 600 gigabases, increasing the instrument’s capacity to 4–5 sequenced genomes in a 10-day run. Sufficient scale and throughput are now available to allow users to analyze and compare hundreds of samples, and these improvements are requiring users “to set up more sophisticated automation platforms,” said Dr. Bentley.
Illumina recently reached an internal milestone, completing a terabase run more than once. The company is nearing completion of work to validate HiSeq in its in-house CLIA sequencing laboratory in preparation for introducing the system into the clinical arena.
Although the capability of next-gen sequencing technology continues to outstrip available computing power, “these problems are tractable,” said Dr. Bentley, and the need for more powerful informatics tools is systematically being addressed. “We are drastically reducing the amount of storage space needed to store the same amount of information,” he explained, pointing to positive signs for the future including Cloud-based initiatives for centralizing data analysis and the development of increasingly sophisticated and diverse informatics strategies for analyzing sequence data and extracting new and focused information.
Dr. Bentley emphasized the need for software tools designed for “less expert users or experts in a different field.” As sequencing technology moves beyond the research laboratory, for example, it become increasingly important to design tools that will allow clinicians to extract and analyze the types of information most useful to them.