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Knome Launches First Platform-Agnostic Human Genome Sequencing and Analysis Service for Researchers

CAMBRIDGE, Mass., Nov. 18 /PRNewswire/ -- Knome, Inc., a recognized pioneer in the personal genomics field, today announced the launch of KnomeDISCOVERY, the first fully integrated human genome sequencing and data processing service for researchers. The new offering meets rapidly emerging demand from biomedical researchers for a one-stop service that bundles affordable, research-tailored access to a broad range of next-generation sequencing platforms with discovery-supportive data management and analysis. KnomeDISCOVERY is expected to catalyze important genetic insights into rare and common human diseases, and to accelerate the development of effective treatments.

In 2007, only three complete human genomes were available for research. In 2010, by contrast, Knome expects to see the sequencing of thousands of genomes as government and private foundations invest hundreds of millions of dollars in grants to leverage the empirical power of individual genome sequencing.

As the cost of sequencing drops, and the tide of genome data rises, data management and analysis are emerging as pressure points that require significant computational infrastructure and expertise. Through KnomeDISCOVERY, individual research groups can leverage Knome's unparalleled sequencing platform access and experience in whole genome and exome analysis.

The new service is ideal for two types of researchers:

  • Researchers with expertise in medical genomics who want to streamline data management and preliminary analysis in forthcoming mass sequencing projects - Leveraging high-volume access to sequencing platforms, Knome handles the logistical hurdles of rapid-turnaround sequencing, and carries out the important but computationally intensive process of "background" genome analysis, freeing researchers to focus on specific question-driven hypothesis testing that can yield novel discoveries in genetic medicine; and
  • Clinically trained researchers with extensive expertise in specific diseases, for whom mass sequencing approaches are novel and unfamiliar tools - Knome's expertise in analyzing whole genome data can directly help these researchers pinpoint novel alleles that contribute to a disease of interest. Knome takes a "fine-toothed" approach to genomic data analysis, grounded in a thorough understanding of genome structure and function; protein biochemistry; population/evolutionary genetics; statistical analysis; and basic disease etiology, as refined by close consultation with the researcher. This approach can quickly identify potentially disease-relevant candidate alleles for researchers to consider for follow-up empirical assessment.

"This is a pivotal moment for genetic research, as the pace of novel genotype-phenotype discovery accelerates," said Jorge Conde, CEO of Knome. "Scientists understand the value of whole-genome and exome sequencing, but few have requisite access to the full complement of state-of-the-art sequencing machinery, data management systems and bioinformatics expertise. Having sequenced and analyzed the genomes of more individuals than any company in the world, Knome is now offering the research community a fast and cost-efficient way to move from DNA to discovery."

Knome works with researchers to create solutions tailored to their scientific aims, as well as their budget, timing and volume requirements. Pricing for KnomeDISCOVERY starts at less than $12,000 per sample, depending on desired sequence coverage and degree of custom consultation required, with turn-around in as little as eight weeks.

Knome's bioinformaticians use kGAP, the company's proprietary analysis platform, to deliver a thorough accounting of both novel and previously known sequence variants. Knome's analysis includes annotation of published allele-disease associations, as well as sophisticated prediction of potential functional effects of newly discovered variants, helping guide researchers to regions of the genome that are potentially relevant to a disease of interest.

"We are excited to bring the scientific research community the type of genome sequencing and data analysis services that have previously only been available to a small number of individuals at large institutions," said George Church, Professor of Genetics at Harvard Medical School and co-founder of Knome. "It is our hope that by making these types of services broadly accessible to many more scientists, the process of discovery will be greatly accelerated."

About Knome, Inc.

Based in Cambridge, Mass., Knome is a leading human genomics company focused on providing secure, state-of-the-art sequencing, data management, and analysis solutions to researchers and individuals. Knome was the first company to offer complete genome (KnomeCOMPLETE) and exome (KnomeSELECT) sequencing and analysis services. Led by internationally-recognized geneticists, clinicians and bioinformaticians, Knome has been responsible for sequencing and interpreting more human genomes than any other company in the world. For more information, please visit

SOURCE Knome, Inc.

SOURCE Knome, Inc.
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