Saphyr Bionano’s data collection is essential in creating the most complete, diversely diverse collection of genome variants ever completed.

SAN DIEGO, February 25, 2021 (GLOBE NEWSWIRE) – Bionano Genomics, Inc. (Nasdaq: BNGO) published in Science of a study by the Human Genome Structural Modification Consortium (HGSVC) that used a combination of advanced sequence and optical genome mapping (OGM) by Saphyr to capture with high resolution and structural accuracy 64 human genomes arranged by haplotype from 32 individuals representing 25 different populations. . The peer-reviewed publication, which previously appeared on the bioRxiv preprinted server, builds on the original Human Genome Project to better capture genetic diversity by cataloging both single nucleotide modifications (SNVs) and structural changes (SVn) from each individual reference quality. genome aggregation compared to the normal human genome reference. The resulting collections and catalog of SNVs and SVs can be a diversity panel that researchers and clinicians can use to accelerate the discovery of new therapeutic targets and pathogenic genetic modifications by making it easier and faster. to make a filter that is representative of population diversity. They also enable population-specific studies of genetic predisposition to human diseases as well as the discovery of more complex forms of genetic variation.

In terms of the contribution of OGM to the identified variables, unparalleled OGM produced 5,590 large SV nodes lost by long-reading based genome assemblages, corresponding to 1,175 specific SV loci. Many of these major SVs involved more complex resection or involved large recurrent areas called regional duplications associated with developmental delay and neuropsychiatric disease. adult, highlighting the importance of OGM in genome structure study.

“Bionano is proud that OGM has made a significant contribution to this impressive work,” said Erik Holmlin, PhD, Head of Bionano Genomics. “OGM contributes to even the most advanced pacification technology and plays a vital role in identifying major structural changes, including those in the most complex parts of the genome, as the authors of the this study. We believe that the study with the HGSCV emphasizes the point, if you are doing a genome study without getting a proper structural picture, you are not doing a deep enough study. It also shows that, when it comes to looking for great SVs, OGM has an unparalleled sensitivity to Saphyr. ”

The work with HGSVC is an extension of the human genome project. In 2001, the International Consortium for Human Genome Classification announced the first version of the human genome reference series. This reference does not represent a single individual but instead is a mixture of people who could not properly grasp the complexity of human genetic change. Building on that reference, scientists have implemented many projects over the past 20 years to identify and catalog genetic differences between an individual and the reference genome. These projects typically focused on small single mutations and missing SVs, which are widely seen as more likely than smaller genetic differences to inhibit gene function. This article in Science published by an international research team and represent a major advance in the tools available to scientists and clinicians who want to discover new biology on the path to medicine and medicine. new diagnostics that will improve outcomes for patients.

The publication can be found at https://science.sciencemag.org/lookup/doi/10.1126/science.abf7117

In Bionano Genomics
Bionano is a genome analysis company that provides tools and services based on its Saphyr system to scientists and clinicians who perform genetic testing and patient testing, and provide diagnostic tests to them. with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through his Lineagen business. The Saphyr Bionano system is a research-only application platform for the detection of ultra-sensitive and ultra-specific structural differentiation that enables researchers and clinicians to accelerate research for new diagnostic and therapeutic targets and study smoothing changes in chromosomes, called cytogenetics. . The Saphyr system consists of an instrument, chip consumables, feedback and a series of data analysis tools. Bionano provides genome analysis services to provide access to data created by the Saphyr system for preferred researchers without the adoption of the Saphyr system in the work- lann aca. Lineagen has been providing genetic testing services to families and their health care providers for more than nine years and has performed more than 65,000 tests for those with neurodevelopmental concerns. For more information, visit www.bionanogenomics.com at www.lineagen.com.

Forward-looking statements
This press release contains forward-looking statements within the meaning of the Private Security Literature Reform Act 1995. Words such as “may,” “will,” “expect,” “plan,” “expect,” “ estimate, ”“ expectation ”And similar phrases (as well as other words or phrases referring to future events, conditions or situations) indicate uncertainty about future events or outcomes and are they intend to highlight these positive statements. Forward-looking statements include statements about our intentions, beliefs, projections, forecasts, analyzes or current expectations, among other things: the ability of OGM to Saphyr improves outcomes for patients by enabling the discovery of new medications and diagnostics; our beliefs about the potential benefits of Saphyr Bionano technology; the importance of large SVs in genetic research; and implementation of the Bionano strategy. Each of these positive statements contains risks and uncertainties. Actual results or improvements may differ significantly from those considered or described in these forward-looking statements. Factors that may make such a difference include the risks and uncertainties associated with: the impact of COVID-19 pandemics on our industry and the global economy; general market conditions; changes in a competitive landscape and the introduction of competitive outcomes; changes in our strategic and commercial plans; our ability to secure sufficient funding to fund our strategic plans and commercialization efforts; the ability of medical and research centers to access funding to support the adoption or continued use of our technologies; loss of key management members and our commercial team; and the risks and uncertainties associated with our overall business and financial position, including the risks and uncertainties outlined in our films with the Commission Securities and Exchange, including, without limitation, our Annual Report on Form 10-K for the year to 31 December. , 2019 and in other films we then made with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only from the date on which they were made and are based on regulatory assumptions and estimates from that date. We take no responsibility for the public updating of forward-looking statements, whether as a result of receiving new information, future events or otherwise.

CONTACTS
Contact the company:
Erik Holmlin, Chief Executive
Bionano Genomics, Inc.
+1 (858) 888-7610
[email protected]

Contact Investment Relations:
Ashley R. Robinson
LifeSci Consultants, LLC
+1 (617) 430-7577
[email protected]

Contact the media:
Darren Opland, PhD
LifeSci Communication
+1 (617) 733-7668
[email protected]

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