Saphyr is emerging as the tool that will lead the modernization of the cytogenetics laboratory
SAN DIEGO, June 14, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (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 announces presentations of initial results of two key clinical studies at the European Human Genetics Conference, the annual conference of the European Society of Human Genetics (ESHG), taking place June 15 to 18 in Gothenburg, Sweden.
In a workshop on June 16, speakers from leading clinical research hospitals in Europe who are evaluating Bionano optical mapping with the Saphyr system against traditional cytogenetics workflows, will present initial results that demonstrate Saphyr's ability to modernize existing workflows.
Dr. Alexander Hoischen, PhD, from Radboud University Medical Center in the Netherlands, will provide an update on their study comparing Bionano optical mapping with Saphyr to the current clinical testing workflows for Chronic Myelogenous Leukemia (CML) and Acute Lymphoblastic Leukemia (ALL) among other hematologic malignancies and some genetic disorders.
In a second presentation, Dr. Laila El-Khattabi, PharmD, PhD, from Hopital Cochin - Paris Descartes University, will present results where the Saphyr system has been used to detect a wide variety of balanced and unbalanced chromosomal abnormalities that occur in reproductive disorders, such as those causing recurrent pregnancy loss.
The workflow based on the Saphyr system has the potential to dramatically simplify patient testing by consolidating the traditional approach into a single workflow compared to current practice, which relies on multiple platforms and can be cumbersome, slow and costly. In addition, compared to existing methods like karyotyping, Bionano optical mapping with Saphyr has significantly higher resolution of the breakpoints of the chromosomal rearrangements that are detected, which makes it possible to more definitively identify the genes affected by the mutation and could improve patient management and therapy selection.
Erik Holmlin, PhD, CEO of Bionano, commented, "The progress we are seeing in these studies is impressive. Based on results that will be described in the workshop on Sunday, researchers and clinicians around the world are now showing a path to digital cytogenetics with the Saphyr system. Such a modernization of the traditional workflow has long been sought after and was the hope when microarrays and next-generation sequencing emerged. Now with Saphyr, the transformation of patient testing as we know it has the potential to finally become reality. We are very grateful to such prominent scientists from world-renowned hospitals who have committed themselves to making this work happen."
More information about Bionano Genomics is available at www.bionanogenomics.com
About Bionano Genomics
Bionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to drive the adoption of digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools.
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Source: Bionano Genomics