Breakthrough Cloud-Based Genome Interpretation Engine Enables the Next Generation of Whole Genome Association Studies

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Knome, a life sciences company that interprets genomes to identify the genetic factors that influence disease risk, cancer progression and drug response, today announced the release of kGAP 2.0TM, the second version of the company's genome interpretation engine. kGAP 2.0 underlies the genome interpretation and comparison services that Knome provides researchers who seek to make genomic discoveries.

"Researchers have been waiting years for costs to reach a point where it was economically feasible to sequence the genome of hundreds of individuals afflicted with a given disease, compare them and identify the causal variants"

Re-engineered to harness the scalability of cloud-computing, kGAP 2.0 can now simultaneously parse, annotate and compare hundreds of genomes, completing in a day what would otherwise require months of effort and a team of specialized scientists. The platform's state-of-the-art curation integrates, reconciles and refines diverse streams of public and proprietary reference data, generating actionable insights from genome data.
With an initial capability to simultaneously process more than 300 genomes, kGAP 2.0 is the first commercial genome interpretation engine to meet the massive computing needs of the next generation of whole genome association studies. These studies - in which hundreds of human genomes are fully sequenced and compared in order to locate the variants likely to influence the disease being studied - are only now becoming economically feasible. They differ markedly from the prior generation of whole genome association studies that, due to the high cost of sequencing, relied on sampling small regions of the genome and ignored rare genetic variations (now suspected to be the cause of many common diseases).

"Researchers have been waiting years for costs to reach a point where it was economically feasible to sequence the genome of hundreds of individuals afflicted with a given disease, compare them and identify the causal variants," said Jorge Conde, co-CEO and co-founder of Knome. "Now that the cost of human genome sequencing has fallen from more than $1 million in 2006 to under $5,000 today, the Holy Grail of true whole genome association studies is within reach. kGAP 2.0 provides the missing piece of the puzzle-the information processing capabilities needed to quickly make sense of the incredible volume of data produced by these new studies."

kGAP 2.0's breakthrough level of throughput is made possible by harnessing the massive scalability of cloud computing. In addition, kGAP 2.0 is able to interpret and compare genome sequences from all major sequencing platforms. This allows researchers to incorporate sequence data from diverse sources in a single study - including from within their own organization or from cross-organization collaborations.

"As next-generation whole genome association studies begin to sprout in labs around the world, it is widely expected that the genetic basis of hundreds of both rare and common diseases will be uncovered in the next several years," said Mr. Conde. "Never before has a technique promised to reveal so much about such a wide variety of diseases so quickly. We look forward to efficiently meeting the critical compute and analytic needs of these new whole genome association studies through kGAP 2.0."

About kGAP 2.0

kGAP 2.0 is a cloud-based genome interpretation engine built to automate the process of finding the genetic variants that influence disease risk, cancer progression and drug response. kGAP 2.0 underlies the genome interpretation and comparison services that Knome provides researchers and private clients. Designed to simultaneously parse, annotate, test and compare hundreds of genomes, kGAP 2.0 can complete in a day what would otherwise require months of effort and a team of specialized scientists.

With an initial capability to process more than 300 genomes, kGAP 2.0 is the first commercially available genome interpretation engine able to handle the massive processing needs of the next generation of whole genome association studies, in which hundreds of genomes are fully sequenced and examined. In addition, kGAP 2.0 is able to interpret and compare genome sequences from all major sequencing platforms, thereby allowing researchers to collaborate on ever-larger studies by incorporating sequencing data from disparate sources.

About Knome

Based in Cambridge, Mass., Knome is a life sciences company that helps researchers and private clients interpret human genomes. Underlying Knome's services is kGAP 2.0, a proprietary genome interpretation engine that automates the process of finding the genetic variants that govern drug response, characterize cancer and influence disease risk. By automating the process of genome interpretation and comparison, Knome is able to derive actionable insights in record time. For more information, please visit www.knome.com.

Suggested Articles

Eli Lilly is combining the oncology team at Lilly Research Laboratories with Loxo Oncology and putting a trio of Loxo execs at the helm.

The failure of SAGE-217 to beat placebo wiped more than 50% off Sage’s share price as investors digested the implications of the data.

The data tee Aurinia up to file for FDA approval next year and go on to address a major unmet medical need.