By Julia Karow
Responding to demand from customers who want to hunt for candidate variants in human genomes on their own but lack the informatics tools to do so, Knome has launched KnomeBase, a service that formats raw sequence data and provides customers with its analysis and interpretation software (see New Products).
KnomeBase, which costs $750 per genome or exome, is a scaled-down version of the company's KnomeDiscovery service, which costs about $2,000 per sample and also provides a comprehensive findings report, in addition to the formatted data and analysis tools.
The company still offers a version of the KnomeDiscovery service that includes both the generation of sequence data, which it outsources to a sequencing service provider, and the interpretation and tools. That all-inclusive service costs $5,000 per genome and $2,500 per exome, sequenced at 30X coverage.
Knome has also started to offer special annotations as an add-on to KnomeDiscovery for cancer research — for example structural variants, copy number variants, and information from the COSMIC database — for an additional $1,000 per sample.
The company offers volume-based and academic discounts for these services.
According to CEO Jorge Conde, Knome started to diversify its service offerings in response to demand from different types of customers.
For example, Knome found that some customers who do not have a lot of bioinformatics capabilities but do possess "deep expertise" in genomics would like to search for candidate variants in genome data on their own. For these customers, the company will structure the data "in such a way that they can ask questions of it" and provide them with a series of interpretation tools under KnomeBase.
Another customer segment needs help with querying the data, and Knome provides them with a short list of the most interesting candidate variants for their study under KnomeDiscovery, in addition to the tools and structured data. "For some researchers, the findings report is the main thing they need," Conde said.
"In KnomeBase, the client uses the tools to get to an answer; in KnomeDiscovery, we use the same tools to get to an answer," he explained.
Conde said that Knome started to uncouple its sequencing service from its informatics and interpretation service around a year ago, as customers started to approach the company with human genome sequence data in hand.
"As sequencing becomes more and more commoditized, people have different options to get that data from somewhere, and we don't want to limit that unnecessarily," Conde said. "As long as it is in a format that we can consume for our informatics pipeline, we're happy to work with it."
"In the end, we want to make sure we're offering a range of interpretation services to meet what we feel are the needs in the marketplace right now."
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