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Genoox, Bionano Genomics Partner for DNA Structural Variant Disease Detection

NEW YORK (GenomeWeb) – Genoox announced today that it has partnered with Bionano Genomics to develop a genome informatics workflow, which will integrate and annotate Bionano's structural variant calls with sequencing data within the Genoox platform.

The integrated platform will perform multiple functions: identify structural variant breakpoints to single base-pair resolution if matching next-generation sequencing reads are available; cross-validate the Bionano and NGS variant calls, which the firms believe will increase calling confidence; detect a detailed set of both single nucleotide variant and structural variant mutations on a single platform; and use Genoox's platform for automatic processing, annotation, data integration, and reporting of results.

Bionano said its Saphyr system, combined with its new DLS labeling chemistry and analysis tools, calls structural variants better than sequencing-based methods. By applying Genoox's variant classification technology to align short read sequence data to its structural variant calls, the high sensitivity of Bionano calls will be combined with the base-pair precision of NGS, the firms added.

The Center for Genetic Medicine Research at Children's National Health System will be the initial user of Genoox's integrated platform, the companies said. Genoox and Bionano both plan to sell and market the integrated platform for research and future clinical applications.

"The Genoox and Bionano collaboration now allows researchers... to quickly and easily detect smaller, SNV type mutations, as well as larger, structural variants on one software platform," Genoox Cofounder and CEO Amir Trabelsi said in a statement. "This will empower researchers and clinicians to gain a deeper understanding of the human genome, more accurately assess impact on biological function, and enable personalized medicine and treatment."