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CAMBRIDGE, Mass.--([ BUSINESS WIRE ])--Knome Inc. announced today that it is taking orders for the knoSYSa"100, 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 knoSYSa"100 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.

"There are close to 2,000 next gen sequencers in labs around the world generating enormous amounts of data"

Starting at $125,000, the knoSYSa"100 is based on Knomeas big data informatics technology. The system will accept next generation sequence data from leading sequencers, including those sold by Illumina (NASDAQ: ILMN), Life Technologies (NASDAQ: LIFE), and Complete Genomics (NASDAQ: 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 knoSYSa"100 eliminates the current informatics bottleneck in whole genome interpretationa"matching the speed of todayas fastest sequencers.

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

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

An in silico genetic testing alab in a boxa

In addition to providing geneticists with query and visualization applications for conducting in-depth research into sets of whole genomes, the knoSYSa"100 ships with tools and libraries that allow developers to create in silico gene tests that can be run at the push of a button.

aThe advent of fast and affordable whole genome interpretation will fundamentally change the genetic testing landscape,a said George Church, PhD, professor of genetics at Harvard University and co-founder of Knome. aThe genetic testing lab of the future is a software platform where gene tests are apps. This will shift genetic testing from a fixed, lengthy process to a rapid and highly dynamic one that makes full use of the data contained in the entire genome.a

Developers can use the tools and libraries included with the knoSYSa"100 to replicate existing single gene tests in software. They can also go further, creating next generation superpanels that examine thousands of genes, as well as incorporate artificial intelligence algorithms; deep reference data on protein interaction and expression; statistical functions; and the power of kindred, population, and tumor/non-tumor comparison.

aIn silico superpanels allow hundreds of conditions to be tested simultaneously and open the door to the development of a new class of molecular diagnostics for complex, multi-gene disorders,a said Dr. Church. aMoving from a world of assays to apps will expand the definition of what a gene atesta actually is, raising important questions but also presenting tremendous opportunities to help improve human well-being.a

As a demonstration of capability, the knoSYSa"100 will include several superpanels for research into cancer, epilepsy, heart disorders, and other conditions.

The system

The knoSYSa"100 is an integrated hardware and software system constructed around Knomeas core big data informatics technology, used since 2008 to interpret thousands of whole human genomes and exomes for medical, pharmaceutical, and academic research projects. The components of the knoSYSa"100 include:

• State-of-the-art informatics engine: a robust and scalable informatics engine (kGAPa") that quickly transforms sequence data produced by different sequencing platforms into standardized, richly annotated, and easily comparable data sets. kGAP draws on an ever-growing, Knome-curated and harmonized knowledge base of reference information from more than a dozen different third-party data sources.
• Advanced genome interpretation applications: query and data visualization applications that allow power users to access kGAP-enhanced genomes in order to conduct in-depth research to find the variants, genes, gene sets, and pathways that underlie disease, drug response and tumor growth.
• Functionality for developing next generation gene tests: tools and scripting libraries that enable medical researchers to create and share next generation, in silico gene panels on whole genomes and exomes processed through kGAP.
• Genomics supercomputer: the knoSYSa"100 is optimized for the intensive processing and I/O requirements of whole genome informatics. At nearly 600 lbs. and running at over 1.2 teraFLOPS, it includes four 2.4GHz 8-core/16 thread Intel Xeon E5-2665 processors, and 18TB to 54TB of useable disk storage and Gigabit Etherneta"all contained in a secure, sound-proofed enclosure that can be placed in a laboratory environment.

Since the knoSYSa"100 is installed on-premises and is maintained behind the clientas firewall, it is well-suited for institutions that do not wish to send genome data to third parties or the cloud due to privacy, consent, or confidentiality concerns.

aThere are close to 2,000 next gen sequencers in labs around the world generating enormous amounts of data,a said Knome Chief Executive Officer Martin Tolar, MD, PhD. aEvery one of those sequencers should have a knoSYSa"100 right next to it. To further facilitate the application of genomics in patient care, we are investing over $50 million in R&D over the next several years. This is where we intend to make a lasting contribution to molecular-based, precision medicine.a

About Knome

Knome Inc. is a leading provider of human genome interpretation systems and services. We help clients in two dozen countries identify the genetic basis of disease, tumor growth, and drug response. Designed to accelerate and industrialize the process of interpreting whole genomes, Knomeas big data technologies are helping to pave the healthcare industryas transition to molecular-based, precision medicine.

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