Bionano Genomics announces consecutive publications in the


SAN DIEGO, July 07, 2021 (GLOBE NEWSWIRE) – Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that two peer-reviewed studies conducted by world-renowned scientists and clinicians from prestigious institutions in Europe, including Radboud University Medical Center, Cochin Hospital in Paris, Hospices Civils de Lyon and Clermont-Ferrand University Hospital have been published consecutively in the American Journal of Human Genetics. One study analyzed the genomes of patients with an inherited genetic disease and one study those of hematologic malignancies. These seminal papers highlight the utility of optical genome mapping (OGM) as a superior alternative to traditional methods of structural variant (SV) analysis. The results showed that the GMO was 100% concordant with the results of fluorescent in situ hybridization (FISH), karyotype and CNV-microarray when these traditional methods identified one or more pathogenic variants in the samples of subjects of study. In addition, the higher resolution of the GMO for all types of variants compared to traditional cytogenomic techniques has allowed more precise characterization of breakpoints and identification of the genes they affect, detection of more events. small associated with cancer that generally escape detection by traditional means, and the discovery of additional complexity of rearrangements. These publications will appear in the August print issue and are available online today at

Number of chromosomal aberrations identified Matching aberrations detected
Study Clinical research request Number of
The patients
(FISH, KT, Array)
AGO GMO sensitivity
vs traditional
Dels Dups Trans. Inver. Other*
Mantere et al. Constitutional disorders 85 99 99 99/99 (100%) 19 20 34 6 20
Kornelia et al. Malignant hematology 52 160 176 160/160 (100%) 34 40 49 2 35
* Covering complex rearrangements, aneuploidy, isochromosomes, ring chromosomes and insertions

Among the main findings presented in the two studies, GMO has the potential to become a primary assay for most molecular cytogenetic applications and provides a complement to existing sequencing-based methods for a more comprehensive view of genome variation. . The authors describe the GMO as a better alternative to traditional cytogenetic assays for inherited genetic diseases and hematologic malignancy applications, as it consolidates several archaic methods requiring manual integration for interpretation into a single workflow with more resolution. high for detection of all classes of SV. Additionally, the authors emphasize that the GMO workflow is ready to be implemented into routine clinical practice and that the data can be easily analyzed by laboratory personnel, which is of critical importance to the clinical adoption and distinguishes GMOs from sequencing-based methods that require complex analyzes. pipelines and teams specializing in bioinformatics.

Dr Laïla El Khattabi from Cochin Hospital in Paris, France, in collaboration with Dr Alexander Hoischen and Dr Caroline Schluth-Bolard, led the consortium for this first publication where 85 constitutional samples with chromosome aberrations in the context of Developmental or reproductive disorders have been analyzed by GMOs and by traditional cytogenetic techniques. She said, “GMOs can really revolutionize the detection of chromosomal aberrations. I think this could be the most important technological breakthrough in the history of cytogenetics since the CNV-microarray. This work is really just the beginning, and we are very excited to continue it.

The study of 52 hematologic malignancy samples led by Dr Alexander Hoischen from Radboud University Medical Center, Nijmegen, The Netherlands analyzed a wide variety of myeloid and lymphoid samples (including CML, CLL, AML, ALL, MDS , MPN and MM), representing all patients with malignant hemopathy referred to the clinic. Dr Hoischen, who also coordinated the constitutional study, added: “I see many opportunities for advanced genome analysis methods to completely transform the way we analyze samples in our laboratories and clinics. Our goals are to deliver workflows that find more variations, faster, so that critical information is available sooner and more reliably. GMO is one of the methods that we see as very promising. By streamlining the workflow and providing data and reports that can be easily interpreted and used by our teams without requiring specialized training, we believe GMO can become an alternative and perhaps even a replacement for cytogenetics. traditional in hematologic malignancies and genetic diseases. The fact that GMO and sequencing, including long read sequencing, are highly complementary, gives us an array of tools that can shape the laboratory of the future. The progress Bionano has made with OGM has been substantial and we are delighted to continue to help them move forward.

Erik Holmlin, PhD, CEO of Bionano Genomics, commented: “Bionano is poised to dramatically transform genetic analysis with GMOs and these publications are laying the foundation for the transformation. In the past, we’ve seen methods that replace legacy workflows by being easier to implement and use while delivering a better outcome, which together promotes wider adoption and use. Examples include transformation of microbiology by rapid PCR methods, automation of immunohistochemistry and in situ hybridization by integrated pathology instruments, and total transformation of DNA sequencing (Sanger) by sequencing of new generation. Each of these innovations has resulted in more efficient workflows with significantly better health outcomes than could have been possible with traditional methods. We believe that GMO with our Saphyr® system has the potential to similarly redefine the analysis of structural variants in genetics and cancer. The publications that appear today are an important step in this process. We are grateful to the study makers and authors for their incredible work.

The publication on constitutional samples is available at, the publication on hematologic malignancies is available at 2021.06. 001

About Bionano Genomics
Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians performing genetic research and patient testing, and providing diagnostic testing to people with autism spectrum disorders. (ASD) and other neurodevelopmental disorders through its Lineagen activity. Bionano’s Saphyr System is a research-only platform for the detection of ultra-sensitive and ultra-specific structural variations that enables researchers and clinicians to accelerate the search for new diagnoses and therapeutic targets and to streamline the process. study of changes in chromosomes, known as cytogenetics. . The Saphyr system consists of an instrument, chip consumables, reagents, and a suite of data analysis tools. Bionano provides genome analysis services to provide access to data generated by the Saphyr system to researchers who prefer not to adopt the Saphyr system in their laboratories. Lineagen has provided genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for people with neurodevelopmental problems. For more information visit or

Forward-looking statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may”, “will”, “expect”, “plan”, “anticipate”, “estimate” , “Intend to” and similar expressions (as well as other words or expressions referring to future events, conditions or circumstances) convey the uncertainty of future events or results and are intended to identify such forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analysis or current expectations regarding, among others: the potential of GMOs with Saphyr to revolutionize cytogenetic analysis; our beliefs about the potential benefits of Bionano’s Saphyr technology; the importance of large VS in genetic research; and the execution of Bionano’s strategy. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that could cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competing products; changes in our strategic and business plans; our ability to secure sufficient funding to fund our strategic plans and marketing efforts; the ability of medical and research institutions to obtain funding to support the adoption or continued use of our technologies; the loss of key members of management and our sales team; and the risks and uncertainties associated with our business and financial condition generally, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our annual report on Form 10-K for the fiscal year ended December 31, 2020 and in other documents subsequently filed by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management’s assumptions and estimates as of that date. We assume no obligation to publicly update any forward-looking statements, whether as a result of receipt of new information, the occurrence of future events, or otherwise.

Company details :
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
[email protected]

Investor Relations and
Media contact:
Amy conrad
Juniper hint
+1 (858) 366-3243
[email protected]


Comments are closed.