Benchmarking Study Shows Streamlined Structural Variant Detection and High Concordance for OGM Compared to Chromosomal Microarray Analysis, the Global Standard in Genetic Disease Analysis

Sep 28, 2023

SAN DIEGO, Sept. 28, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the publication of the first peer-reviewed benchmarking study to compare optical genome mapping (OGM) to the current global standard in molecular analysis of constitutional genetic disorders, chromosomal microarray analysis (CMA).

The study evaluated the potential of OGM to measure all classes of variant types covered by CMA, including gains, losses, aneuploidy, triploidy and absence of heterozygosity, in indications including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). The study also compared the performance of OGM to methods such as karyotyping (KT) and fluorescence in situ hybridization (FISH), which are used in conjunction with CMA to resolve duplications or when CMA results suggest the presence of a translocation.

Key Findings:

  • OGM was 100% concordant with CMA for the detection of pathogenic variants (46 out of 46 pathogenic variants detected in 36 samples)
  • OGM was 98% concordant with CMA for the detection of clinically significant structural variants (60 out of 61 clinically significant variants detected by OGM were in agreement with CMA results; 1 variant was called a duplication by CMA and called an insertion by OGM)
  • In 22% of samples (12 out of 55 samples), the higher resolution of OGM allowed for better refinement of the structure of the genome compared with CMA alone
  • In 3 cases where CMA results implied unbalanced derivative chromosomes, OGM was able to detect the translocation (fusion)

“According to guidelines, CMA is the global standard for molecular analysis of constitutional genetic disorders. Additionally, KT and FISH are needed as a reflex when researchers must confirm a translocation or locate a duplication.

CMA remains the current global standard because short-read whole genome sequencing (WGS) remains too expensive to run at sufficient depth to offer comparable resolution to what CMA provides, and low-pass WGS is typically only cost-effective with high sample volumes. The gap between long-read sequencing and CMA is even greater than the gap between short-read WGS and CMA.

It is important for the research community to have a benchmarking study comparing OGM to CMA, especially for genetic disorders, since OGM has a comparatively cost-effective workflow with simple interpretation and analysis. We are pleased to see the study findings confirm OGM’s full concordance with CMA and its potential to eliminate the need for reflex testing with FISH and KT, based on its higher resolution,” commented Erik Holmlin, president and chief executive officer of Bionano.

The publication can be viewed here.

About Bionano

Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. The Company also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view. The Company additionally offers nucleic acid extraction and purification solutions using proprietary isotachophoresis technology. For more information, visit or

Unless specifically noted otherwise, Bionano’s OGM products are for research use only and not for use in diagnostic procedures.

Forward-Looking Statements of Bionano

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “believe,” “can,” “could,” “may” “potential” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances and the negatives thereof) 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: the potential of OGM to measure all classes of variant types covered by CMA in indications including DD/ID, ASD and MCA and eliminate the need for reflex testing with FISH and KT, based on its higher resolution; and other statements that are not historical facts.

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 geopolitical and macroeconomic developments, such as recent and future bank failures, the ongoing Ukraine-Russia conflict, related sanctions, and any global pandemics, on our business and the global economy; challenges inherent in developing, manufacturing and commercializing products; our ability to further deploy new products and applications and expand the markets for our technology platforms; failure of our OGM solutions to measure all classes of variant types covered by CMA in a manner consistent with the study results described in this press release; future study results that contradict or do not support the study results described in this press release; our expectations and beliefs regarding future growth of the business and the markets in which we operate; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; and 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, 2022 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 are under no duty to update any of these forward-looking statements after the date they are made to conform these statements to actual results or revised expectations, except as required by law. You should, therefore, not rely on these forward-looking statements as representing our views as of any date subsequent to the date the statements are made. Moreover, except as required by law, neither we nor any other person assumes responsibility for the accuracy and completeness of the forward-looking statements contained in this press release.


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

Investor Relations:
David Holmes
Gilmartin Group
+1 (858) 888-7625

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Source: Bionano Genomics