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GEN News Highlights : Jul 25, 2012

Speeding Up Whole-Genome Sequencing

Complete Genomics will bundle Ingenuity Systems' Variant Analysis application with its research whole-genome sequencing services. The firms say this bundled solution will enable research customers to analyze and interpret biologically relevant genetic variations and provide scientists with a fully integrated sample-to-insight workflow.

Researchers using Complete’s services will now be able to identify and prioritize variants in hours, a process that otherwise can take weeks to months. Variant Analysis leverages the Ingenuity Knowledge Base and advanced analytics to speed the identification and prioritization of variants through the application of relevant biological information and additional variant-specific content.

“The combination of Ingenuity and Complete Genomics yields a powerful workflow for the analysis of whole-genome data,” says Gustavo Glusman, senior research scientist at the Institute for Systems Biology. “It makes it very easy and fast to go all the way from DNA samples to insights about disease-causing variants. . . . Using the Ingenuity Variant Analysis system, we quickly identified novel candidate variants for a rare hereditary disease that we studied using Complete Genomics’ whole-genome sequence data.”

As part of this agreement, Complete’s customers using Ingenuity Variant Analysis will receive access to the Wellderly whole-genome sequence dataset being developed in collaboration with Scripps Health. This dataset, which will eventually include 1,000 healthy volunteers’ genomes, will be a control for genetic studies of late-onset diseases such as various cancers, heart disease, Alzheimer’s disease, and Parkinson’s disease. Access to this control data set will involve selecting a single check box to remove the common variants found in the Wellderly dataset.