Complete Genomics Bundles Ingenuity Variant Analysis software

By Bio-IT World Staff

July 26, 2012 | Complete Genomics announced that it will bundle Ingenuity Systems’ Variant Analysis application with its research whole genome sequencing services.

This bundled solution should enable customers to rapidly analyze and interpret biologically relevant genetic variations and provide researchers with a fully integrated workflow.

“With Ingenuity Variant Analysis as an integrated component of our sequencing service, what was the laborious task of identifying, annotating and prioritizing variants can be done within hours,” said Clifford Reid, chairman, president and CEO of Complete Genomics.

The news was part of a busy summer for Complete Genomics capped by two noteworthy peer-review publications. In July, it published an important paper in Nature detailing the company’s Long Fragment Read Technology, which produces long contiguous reads at high accuracy. It also contributed to a major paper in Cell from researchers at Princeton and elsewhere reporting the sequencing of three African populations, raising interesting questions about recent human evolution.   

As for the Ingenuity bundle, Complete says that its customers will now have an end-to-end solution for the analysis and interpretation of their DNA sequencing data, allowing them to rapidly identify and prioritize DNA variants in hours, rather than days or weeks. Variant Analysis leverages the Ingenuity Knowledge Base and analytics to speed the identification and prioritization of variants through the application of relevant biological information and additional variant-specific content. All orders for new research genomes placed henceforth will include access to Ingenuity Variant Analysis for six months.

“The combination of Ingenuity and Complete Genomics yields a powerful workflow for the analysis of whole genome data,” said 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. The expert-curated biological content and flexible filtering method make it very convenient for exploring genomes. 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.”

 “The downstream analysis of next generation sequencing data continues to be a critical rate-limiting factor in our ability to gain insights,” said Leonard Sender, clinical professor of medicine, University of California, Irvine. “Ingenuity and Complete have addressed that challenge by providing an integrated solution that will dramatically accelerate and simplify our research and help us identify disease-causing variants in a fraction of the time.”

Customers of Complete’s using Ingenuity Variant Analysis will receive access to the Wellderly whole genome sequence data set that Complete is developing in collaboration with Scripps Health. This data set, which will eventually include 1,000 healthy volunteers’ genomes, will be an ideal 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 be as easy as selecting a single check box to remove the common variants found in the Wellderly data set.