Bionano and Genoox Launch Integrated Platform for Identification of Structural Variants in DNA

Bionano Genomics (NASDAQ:BNGO), a life sciences instrumentation company that develops and markets Saphyr, a platform for ultra-sensitive and ultra-specific structural variation detection in genome analysis, and Genoox, the healthcare technology company on a mission to make it easier for doctors, clinicians and researchers to run clinical genetic applications and act on genetic sequencing results, announced today the launch of the Genoox Integrated Platform for identification of structural variants.

As quoted in the press release:

While Next-Generation Sequencing (NGS) made the detection of single nucleotide variants (SNV) affordable and straightforward, identifying structural variants (SVs) from NGS data has proven much harder. Despite large scale efforts, algorithmically inferring SVs has limited sensitivity and typically generates large numbers of false positives. Bionano’s Saphyr system combined with its new DLS labeling chemistry and a suite of analysis tools performs much better at calling structural variants of all types than sequencing based methods. By using Genoox technology for aligning short read sequence data with Bionano’s SV calls, the high sensitivity of Bionano calls will be combined with the basepair precision of NGS. The Genoox Integrated Platform further automatically validates and confirms SV calls and integrates and annotates SVs with smaller sequence variants in the same genome. It provides sensitive, accurate detection of structural variation and genetic mutations, not previously possible, helping to speed genetic diagnosis.

The new platform combines raw NGS read data with Bionano-based SV calls from a single patient. Bionano’s SV data are used to guide the alignment of NGS reads. Evidence from both technologies is used simultaneously to provide increased breakpoint accuracy and confidence. Detected SVs, 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. A customizable clinical report on all variants is generated, including Bionano-only and NGS-only calls, reducing the complexity of determining and reporting the pathogenicity of genomic variants.

Click here to read the full press release.