Genoox and Bionano Genomics Partner for DNA Structural Variant Disease Detection

Genoox, Bionano Genomics Partner for DNA Structural Variant Disease Detection

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.

Co-founder and CEO of Genoox, Amir Trabelsi said that Genoox and Bionano are solving some of the biggest problems in genomics with their new integrated platform. Till date NGS technology has been a powerful tool to detect smaller DNA mutations. The Genoox and Bionano collaboration now allows researchers, such as the team at Children’s National, to quickly and easily detect smaller, SNV type mutations, as well as larger, structural variants on one software platform. 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.

Mark Borodkin, Chief Operations Officer of Bionano Genomics said they are delighted to collaborate with Genoox to provide a new way to integrate Bionano and NGS data. Bionano’s unprecedented ability to discover structural variants has led to broader adoption in human health research. While Bionano’s SV calls are sufficient for many applications, some more complex indications require a tight integration with the smaller NGS-called variants. They believe the Genoox integrated platform with Bionano data will provide an important tool in disease research.

About Genoox

Genoox is a genomic analysis company on a mission to make clinical genetic sequencing more accessible and affordable. Using its cloud based platform, Genoox manages the entire genetic sequencing process from raw data collection to the delivery of clinical actionable insights. By automating data interpretation and providing millions of in-house and public data points through a proprietary search engine, Genoox aims to improve patient outcomes with increased accuracy and efficiency, enabling personalized medicine. Users across research, clinical and medical facilities can then securely share complex clinical research using a set of customizable tools developed to analyze data and generate actionable reports.

About Bionano Genomics

Bionano Genomics, Inc. offers whole genome analysis tools to better understand the genome and its structure. Its high-throughput system Saphyr builds de novo maps of the genome by massively parallel imaging of the longest single DNA molecules in the industry. Bionano genome mapping provides comprehensive structural variation (SV) calls, identifying all types of SVs with sensitivities that far exceed those based on next-generation sequencing. When combined with orthogonal sequencing data, Bionano maps can provide the correct structure, order, and orientation to assemble reference-quality genomes.