Knome Introduces the knoSYS™100; First Plug-and-Play Human Genome Interpretation System

Posted: September 30, 2012 at 6:14 pm

CAMBRIDGE, Mass.--(BUSINESS WIRE)--

Knome Inc. announced today that it is taking orders for the knoSYS100, the first plug-and-play, fully integrated hardware and software system designed to help researchers in medical and academic institutions interpret human whole genomes. The knoSYS100 was developed to help geneticists discover relevant genetic variation, investigate diseases of unknown cause, and create next generation in silico gene tests. Units will begin shipping in Q4, 2012.

Starting at $125,000, the knoSYS100 is based on Knomes big data informatics technology. The system will accept next generation sequence data from leading sequencers, including those sold by Illumina (ILMN), Life Technologies (LIFE), and Complete Genomics (GNOM).

Breaking the genome interpretation bottleneck

The difficulty and cost associated with human genome sequencing has largely been addressed, with the cost of sequencing a whole genome expected to decline to under $1,000 in 2013. But it still takes a team of researchers weeks to months to annotate, compare, and interpret genome data. This slow pace and the lack of robust tools have significantly limited the ability of researchers to scale the process of interpreting human genomes.

With an average throughput of one genome per day, the knoSYS100 eliminates the current informatics bottleneck in whole genome interpretationmatching the speed of todays fastest sequencers.

In the first half of this year, we saw the demand for genome interpretation surge as researchers in many of the worlds leading medical institutions started preparing for the broad utilization of whole genome interpretation for patient care, said Martin Tolar, MD, PhD, Chief Executive Officer of Knome. All of these institutions face the same issuehow to industrialize genome interpretation so that it is not only accurate, but fast.

More than a dozen of the worlds top medical institutions have joined an early access program to pilot Knomes genome interpretation technology, including: ARUP Laboratories, Cedars-Sinai Medical Center, Cincinnati Childrens Hospital, The Hospital for Sick Children (SickKids) in Toronto, Hyundai Cancer Institute at CHOC Childrens, University of Liverpool, and University of Verona.

An in silico genetic testing lab in a box

In addition to providing geneticists with query and visualization applications for conducting in-depth research into sets of whole genomes, the knoSYS100 ships with tools and libraries that allow developers to create in silico gene tests that can be run at the push of a button.

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Knome Introduces the knoSYS™100; First Plug-and-Play Human Genome Interpretation System

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