Knome automates analysis of NGS data, evolves in genomics field

Knome wants to take the labor-intensive process of analyzing some data on sequenced genomes off a researcher's plate. And the start-up this week revealed the release of its latest software for interpreting genomic data, another step in the firm's efforts to automate whole genome analysis.

The Cambridge, MA-based firm says that its "kGAP 2.0" software is the second version of its genome interpretation engine. With the ever-increasing scale of studies to analyze genomes to identify variants linked to disease, the firm's software taps computing resources in the cloud to automatically process up to 300 whole genomes at the same time and annotate them with known variants. The tool can also integrate data from major sequencing platforms from Illumina ($ILMN), Life Technologies ($LIFE) and Complete Genomics ($GNOM).

"We've essentially productized what we think is the heavy lifting piece of any whole genome study, which is (going) through the data, doing the annotations, and making sure that with any variants you find you understand what's known about those variants in the scientific literature--etcetera, etcetera," Jorge Conde, co-CEO of Knome, tells FierceBiotech IT in an interview.

The technology is a major part of Knome's evolution from mostly a provider of genome sequencing and analysis services for the rich in its early days to a company that delivers genomic analysis services mostly for research customers such as academic labs and biopharma outfits that are doing studies involving many genomes. Today, according to Conde, 95% of the privately held firm's revenue comes from research clients, with the remainder coming from consumers who pay to have their genomes sequenced and analyzed.

Still, Conde says that Knome wants to keep its consumer business alive, as at some point the price of whole genome sequencing--now as cheap as around $5,000 for an individual genome--drops to point where it's affordable to the masses. Of course, the price of sequencing has already fallen at a breakneck pace since it took 10 years and $3 billion to sequence the first whole genome about 11 years ago.

At Knome, which has sequenced the genomes of wealthy people and celebrities like Sharon and Ozzy Osborne, its price for sequencing and analyzing an individual's DNA has fallen from $350,000 at the time of the firm's start in 2007 to around $10,000 today, Conde tells FierceBiotech IT. While the speed and efficiency of next-generation sequencing platforms is to thank for most of that dramatic drop in cost at the firm, the company can now rely less heavily on geneticists and bioinformaticians than before because its software automates much of the analysis for its service.

- here's the Knome release

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