Benzinga | Oct 21, 2020 08:17AM EDT

Bionano Genomics Releases Update To Its Suite Of Software Tools

Reduced compute time, faster variant analysis, more comprehensive clinical annotation and streamlined workflow for non-human model genomes used in drug development improve Saphyr's best in class structural variation analysis even further

SAN DIEGO, Oct. 21, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics (NASDAQ:BNGO) announces the most significant update to its suite of software tools for data analysis since the launch of Saphyr in 2017. This version of Bionano Access contains over 100 new features and revisions designed to simplify and accelerate every step in the data analysis workflow and make Bionano data easier to interpret. The update is available now as a free download and will be included with Saphyr systems going forward. With these enhancements, it is expected that clinical labs that adopt Saphyr can more readily develop assays for a wide range of genetic diseases, including tests for pediatric neuro-developmental disorders, liquid biopsies for blood cancers like leukemias, lymphomas and multiple myeloma and tests for solid tumors as well.

Current clinical standards of care for diagnostic testing in genetic disease and cancer are based on a series of medical guidelines that recommend structural variation (SV) analysis as first-tier testing. For genetic disease, chromosomal microarray (CMA) analysis is first tier and karyotyping (KT) and fluorescence in-situ hybridization (FISH) are used as reflex tests. Medical guidelines for testing in heme malignancies recommend using KT as first tier testing, alongside some rapid FISH assays and FISH panels, and recommend using CMA as reflex tests. In multiple publications and presentations, Saphyr has been shown to provide a single test that is 100% concordant with the testing methods currently recommended by these guidelines, which requires the use of three different technologies. To-date, this capability has not been shown by any other genome analysis platform. Saphyr has been shown to be significantly more sensitive and specific for SVs than next-generation sequencing (NGS) and to outperform long-read sequencing platforms from PacBio and Oxford Nanopore Technologies. This software updates further enhance Saphyr's unique advantages for customers.

Building on the success of Bionano EnFocus(tm) FSHD Analysis tools that automate the analysis of variants in a form of muscular dystrophy, this update is expected to be a key step forward in finalizing other EnFocus panels that automate analysis of variants in patients with genetic diseases, including autism spectrum disorder, developmental delay and repeat expansion disorders, patients with various heme malignancies, such as AML and CLL leukemias, and patients with solid tumors. This new version of the software makes it possible for Bionano EnFocus FSHD to run on the PC that ships with the Saphyr instrument without the need for cloud-based analysis or costly compute clusters. However, for analysis run on Bionano's cloud-based Compute On Demand, the updated software is more efficient, expands capacity and reduces the analysis time, in some cases by threefold. For discovery research, like in cancer research where exceptional sensitivity is essential, cloud-based analysis now finishes in hours rather than in days.

Mark Oldakowski, Chief Operating Officer of Bionano Genomics, who led the development of the software commented: "With the improvements to our analysis and visualization software announced today, Saphyr continues to increase its lead as the most powerful genome analysis platform for the detection of structural variants and copy number variations in human genomes and complex cancer samples. Saphyr's unique ability to detect structural variants down to 1% allele fraction, genome-wide and unbiased, without enrichment or amplification and with the highest sensitivities and lowest false positives is unmatched by current short or long-read sequencing technologies. The new capabilities and improvements to our software further simplify and speed up the analysis and interpretation of clinical samples and we believe that these updates may help accelerate Saphyr's adoption for Next-Generation Cytogenomics in the estimated 2,500 cytogenetics labs around the world."

Bionano Solve v3.6 and Bionano Access v1.6 are available for download at https://bionanogenomics.com/support/software-downloads/