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Bionano Genomics Releases Major Update to Its Suite of Software Tools That Simplifies Clinical Analysis, Reduces Time to Actionable Results and Makes Adoption by Clinical Labs Easier
Reduced compute time, faster variant analysis, more comprehensive clinical annotation and streamlined workflow for non-human model genomes used in drug
About this update from Bionano Genomics, Inc.
[{"type":"text","content":"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\nSAN 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.\n 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™ FSHD Analysis tools that automate the analysis of variants in a form of muscular dystrophy, ...