Bionano Genomics and Genoox have launched the Genoox Integrated Platform for identification of structural variants. The companies said 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 that the Saphyr system, combined with the firm's 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 would be combined with the base-pair precision of NGS. The Genoox Integrated Platform further automatically validates and confirms structural variant calls, in addition to integrating and annotating structural variants with smaller sequence variants in the same genome, the firms said. The tool 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. Researchers then use Bionano's structural variant data 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, the companies said. The platform then generates a customized clinical report on all variants, including Bionano-only and NGS-only calls. Genoox and Bionano will co-sell and co-market the integrated platform.