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Complete Genomics Launches Genomic Discovery Software Partners Program
Product News

Complete Genomics Launches Genomic Discovery Software Partners Program

Complete Genomics Launches Genomic Discovery Software Partners Program
Product News

Complete Genomics Launches Genomic Discovery Software Partners Program

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Complete Genomics Inc. has introduced its Genomic Discovery Software Partners Program. Ingenuity(R) Systems, Golden Helix and DNAnexus have been chosen as initial partners because they have offerings that complement the information supplied with Complete Genomics' sequencing service and can expedite the genetic research of its customers.

"Researchers have been using advanced analysis, storage and visualization capabilities from our partners to complement our mapping, genome assembly, variant calling and annotation capabilities," said Dr. Clifford Reid, chairman, president and CEO of Complete Genomics. "We are launching this program to let the entire genetic research community know that these partners offer solutions compatible with Complete Genomics' data that can accelerate the pace of biological discoveries."

Ingenuity Variant Analysis(TM) is a new software product focused on enabling rapid filtering and annotation of variants from human re-sequencing studies. It helps researchers prioritize among millions of variants and identify those that are most likely to be biologically significant. This tool leverages Ingenuity's Knowledge Base, a database of more than 4 million findings gleaned from peer-reviewed journals and literature and other public genomic data sources, to more easily make connections between genomic variants and biological pathways. It can identify causal variants for a rare disease, driver variants for a particular cancer, or variants associated with response or non-response to a therapeutic or rare adverse event.

"Accurate biological interpretation is critical to efficiently identify causal variants from DNA re-sequencing studies," stated Professor Peter van der Spek, Ph.D., Erasmus University Medical Center. "The partnership between Complete Genomics and Ingenuity Systems creates an easy, powerful way for researchers to quickly prioritize and identify biologically relevant and actionable variants that are most relevant to disease progression or drug response."

Dr. van der Spek's recent work with Complete Genomics and Ingenuity Systems resulted in the identification of a novel causal variant for craniosynostosis,1 a congenital malformation of the skull.
Golden Helix's SNP and Variation Suite (SVS) is a desktop solution that combines powerful variant classification, bioinformatic filtering, functional annotation, visualization and statistical analysis capabilities into one flexible product. By allowing customers to take control of individual steps within the analysis process, SVS empowers them to quickly uncover statistically significant genotype-phenotype associations or causal variants in large-scale data.

DNAnexus, which previously partnered with Complete Genomics, is joining the program to provide an instant genomics data and analysis center with its cloud-based solutions for customers' human genome sequencing data. DNAnexus offers feature-rich data visualization and interpretation tools to view and filter variant, CNV, SV and read data through a user-friendly Web service that requires no additional software or hardware investment. The secure and scalable platform provides a collaborative environment between researchers across different institutions.

Complete Genomics will continue to expand its group of Genomic Discovery Software Partners as other companies demonstrate significant value to its customers.

Attendees at the Advances in Genome Biology and Technology Annual Meeting in Marco Island, Fla., will be able to see Complete Genomics' Genomic Discovery Software Partners demonstrating how to use their solutions with Complete Genomics data in the Complete Suite in the Everglades Room from 5-7 p.m. ET on Thursday, Feb. 16.