First Publication from International Consortium Using Bionano Imaging in Genetic Disease Patients Demonstrates that Bionano’s Saphyr Detects All 100 Chromosomal Aberrations in 85 Samples

  • First large study in constitutional genetic diseases showed 100% concordance to all gold-standard cytogenetic testing methods combined
  • Demonstrates Bionano’s continued progress on goal of Saphyr becoming the new standard of digital cytogenetic testing

SAN DIEGO, July 20, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that the European consortium led by Laila El Khattabi from the Cochin Hospital in Paris, France and Alexander Hoischen from the Radboud University Medical Center in the Netherlands, published their first paper on the use of Bionano’s Saphyr genome imaging instrument to investigate the performance of Bionano data in comparison to cytogenetic standard of care in constitutional or inherited genetic disorders. Consistent with preliminary reports on this study, the authors reported 100% concordance between optical mapping results from the Saphyr genome imaging instrument and gold standard cytogenetic methods consisting of a combination of karyotyping, FISH, and/or chromosomal microarray in a cohort of patients with a variety of constitutional or inherited genetic disorders. The final results of the study are published in bioRxiv (

The data originate from a multi-center effort between the hospitals of Paris-Cochin, Lyon and Clermont-Ferrand in France and the Radboud University Medical Center in the Netherlands, involving 85 samples from patients with developmental delay, autism spectrum disorders, intellectual disability, congenital malformations, reproductive disorders, familial history of chromosomal aberration or abnormal prenatal test results. The performance of Saphyr was benchmarked [against traditional cytogenetic testing methods] on a total of 100 simple or complex chromosomal events with 11 different types of balanced and unbalanced aberrations such as microdeletions, microduplications, translocations, insertions, large copy number variations, aneuploidies and ring chromosomes. The study authors reported that all clinically relevant variants previously detected by a combination of cytogenetic methods were identified by Saphyr, and that Saphyr is capable of comprehensively detecting all classes of chromosomal aberrations without the need of a complex bioinformatic analysis pipeline, while overcoming issues presented by repetitive regions inaccessible to sequencing. Importantly, the multicenter study results support the utility of Saphyr as samples were analyzed in three different facilities and results remained consistent as measured by quality and concordance with conventional cytogenetic analyses.

The study authors describe Saphyr as a viable alternative to both karyotyping and CNV-microarray, especially in reproductive disorders as a potential replacement of karyotyping as the primary cytogenetic testing method. Sequencing-based methods have failed to replace karyotyping, especially in prenatal testing, because of a high incidence of false positive findings, which has not occurred with Saphyr. In developmental disorders, Bionano genome imaging could potentially complement next generation sequencing to achieve a better and possibly nearly complete genome analysis and allow for a comprehensive genomic investigation.

In an online presentation of the results, Laila El Khattabi, PhD, Associate Professor, Cochin Hospital, commented: “We expect significant benefits from using Saphyr for diagnosis. The technology presents a simple workflow fitting with a routine analysis. For reproductive disorders, we know karyotyping has very low resolution and we definitely see genome imaging coming as a first test.” She also expressed her believe that, for developmental disorders, Saphyr would nicely complement NGS and replace chromosomal microarray analysis. Alex Hoischen, PhD, Associate Professor, Radboud University added: “For the first time, by combining NGS and Saphyr we get close to an almost perfect genome analysis.”

Erik Holmlin, PhD, CEO of Bionano Genomics commented: “We are proud of the results from this groundbreaking study conducted by a leading team of European cytogeneticists, and believe it is the most powerful demonstration of Saphyr’s performance in genetic disease to date. In 85 samples with a variety of genetic disorders or infertility, Bionano’s genome imaging technology identified 100% of 100 chromosomal aberrations that previously required a combination of karyotyping, chromosomal microarray and FISH to be fully detected. The study authors believe in Saphyr’s ability to function as a key clinical tool given its ability to consolidate three separate complex, manual methods into a single simple workflow, and are working on implementing Saphyr in the clinic in the months ahead. Studies such as this and previously reported results in patients with leukemia are establishing Saphyr as the potential new standard of digital cytogenetic testing.”

The publication is available on bioRxiv:

A recording of the presentation on the data can be viewed at

About Bionano Genomics
Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing. Bionano’s Saphyr system is 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 streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. For more information, visit

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” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: Saphyr’s ability to comprehensively detect all classes of chromosomal aberrations; Saphyr’s use as a viable alternative to traditional cytogenetic methods; and the potential for our genome imaging technology to complement next-generation sequencing in genome analysis, and the possible results of any such combination of the two technologies. 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 may 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 competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, 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 year ended December 31, 2019 and in other filings subsequently made 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 such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610

Investor Relations Contact:
Ashley R. Robinson
LifeSci Advisors, LLC
+1 (617) 430-7577

Media Contact:
Kirsten Thomas
The Ruth Group
+1 (508) 280-6592

Data & News supplied by
Stock quotes supplied by Barchart
Quotes delayed at least 20 minutes.
By accessing this page, you agree to the following
Privacy Policy and Terms and Conditions.