Bionano Genomics, Inc. (BNGO), developer of the Saphyr® system that uses optical genome mapping (OGM) for the detection and analysis of structural variants (SVs), today announced the release of Bionano Solve™ version 3.7 and Bionano Access™ version 1.7 as available data solution upgrades for Saphyr systems installed in laboratories worldwide. Included in these updates are significant improvements in variant detection, as well as workflow simplifications and other benefits designed to support clinical research in inherited genetic diseases and cancer. All new Saphyr system installations will include these versions.
New OGM capabilities include the means to detect more clinically-relevant variants such as absence of heterozygosity (AOH) and allelic imbalance, the first two classes of variations that are typically considered as sequence rather than structural variants. The updates will also enable users to visualize chromosomal AOH across the genome similarly to single nucleotide polymorphism (SNP) microarrays. In addition, OGM users will have the ability to detect uniparental isodisomy UPD, regions identical by decent (IBD), triploidy and improved characterization of mosaic SVs through variant allele fraction (VAF) plots.
Also as part of this release, the family of EnFocus™ targeted analysis panels now includes one for Fragile X, a repeast expansion disorder. EnFocus Fragile X is an analytical routine that automates the process of sizing the Fragile X repeat with high accuracy, precision and sensitivity, thereby reducing the time to results for researchers.
Bionano has streamlined the analytical workflow tied to OGM through this software release. The new workflow enables all SVs detected by Solve and analyzed with Access to be named and classified using standard terminology according to the 2020 International System for Human Cytogenomic Nomenclature (ISCN). This new classification is expected to simplify the reporting and interpretation of research findings, making it easier to compare information across other databases.
“These ongoing improvements in the performance of our software for detecting SVs, as well as the tools for interpreting and reporting calls, continue to impress me,” said Erik Holmlin, PhD, CEO of Bionano Genomics. “We believe this update is significant because of the AOH and allelic imbalance functionality we are introducing. With our acquisition of BioDiscovery now complete, we can begin work to integrate our variant detection technology with NxClinical’s visualization, interpretation and reporting capabilities to offer a potentially outstanding window through which researchers can obtain the data to drive their science.”
