Bionano Genomics and Genoox have launched the Genoox Integrated Platform for identification of structural variants. The companies announced in April that they had partnered to develop a genome informatics workflow, which would integrate and annotate Bionano's structural variant calls with sequencing data within the Genoox platform.
Bionano said its Saphyr system, combined with its new DLS labeling chemistry and analysis tools, calls structural variants better than sequencing-based methods, and that by applying Genoox's variant classification technology to align short read sequence data to its structural variant calls, the high sensitivity of Bionano calls would be combined with the base-pair precision of NGS. The Genoox Integrated Platform further automatically validates and confirms structural variant calls and integrates and annotates structural variants with smaller sequence variants in the same genome, the firms said. It provides sensitive, accurate detection of structural variation and genetic mutations, helping to speed genetic diagnosis.
The new platform combines raw NGS read data with Bionano-based structural variant calls from a single patient. Bionano's structural variant data are used to guide the alignment of NGS reads. Detected structural variants, copy number variants, indels, and single nucleotide variants are then annotated by aggregating data from multiple clinical and population frequency databases, and automated AI-based classification according to ACMG guidelines, according to the companies. The platform then generates a customizable clinical report on all variants, including Bionano-only and NGS-only calls.
Genoox and Bionano will co-sell and co-market the integrated platform.