- \n
- 98.8% detection accuracy (84 out of 85 cases)<\/li>\n
- Accurate measurement of repeat sizes, even exceeding 7,000 units<\/li>\n
- Detection of somatic instability in 36 out of 85 samples<\/li>\n
- Single comprehensive assay capability across multiple loci<\/li>\n<\/ul>\n
The research suggests OGM could provide a more cost-effective and efficient alternative to traditional methods like PCR, Southern blotting, and next-generation sequencing for analyzing repeat expansions in genetic disorders.<\/p>\n
Bionano Genomics (BNGO)<\/b> ha pubblicato uno studio peer-reviewed su Genome Research che dimostra l’efficacia della mappatura ottica del genoma (OGM) nell’individuare grandi espansioni di ripetizioni associate a disturbi genetici. La ricerca, condotta presso il Radboud University Medical Center, ha valutato 85 soggetti con espansioni patogeniche note in tre geni correlati alla distrofia miotonica e alla sindrome CANVAS.<\/p>\n
Lo studio ha evidenziato risultati chiave<\/b>:<\/p>\n
- \n
- 98,8% di accuratezza nel rilevamento (84 casi su 85)<\/li>\n
- Misurazione precisa delle dimensioni delle ripetizioni, anche oltre 7.000 unit\u00e0<\/li>\n
- Rilevamento di instabilit\u00e0 somatica in 36 campioni su 85<\/li>\n
- Capacit\u00e0 di un test unico e completo su pi\u00f9 loci<\/li>\n<\/ul>\n
La ricerca suggerisce che l\u2019OGM potrebbe rappresentare un\u2019alternativa pi\u00f9 economica ed efficiente rispetto ai metodi tradizionali come PCR, Southern blotting e sequenziamento di nuova generazione per l\u2019analisi delle espansioni di ripetizioni nei disturbi genetici.<\/p>\n
Bionano Genomics (BNGO)<\/b> ha publicado un estudio revisado por pares en Genome Research que demuestra la efectividad del mapeo \u00f3ptico del genoma (OGM) para detectar grandes expansiones repetitivas vinculadas a trastornos gen\u00e9ticos. La investigaci\u00f3n, realizada en el Radboud University Medical Center, evalu\u00f3 a 85 sujetos con expansiones patog\u00e9nicas conocidas en tres genes asociados con la distrofia miot\u00f3nica y el s\u00edndrome CANVAS.<\/p>\n
El estudio revel\u00f3 hallazgos clave<\/b>:<\/p>\n
- \n
- Precisi\u00f3n del 98,8% en la detecci\u00f3n (84 de 85 casos)<\/li>\n
- Medici\u00f3n precisa del tama\u00f1o de las repeticiones, incluso superiores a 7.000 unidades<\/li>\n
- Detecci\u00f3n de inestabilidad som\u00e1tica en 36 de 85 muestras<\/li>\n
- Capacidad de un ensayo \u00fanico y completo en m\u00faltiples loci<\/li>\n<\/ul>\n
La investigaci\u00f3n sugiere que el OGM podr\u00eda ser una alternativa m\u00e1s rentable y eficiente frente a m\u00e9todos tradicionales como PCR, Southern blotting y secuenciaci\u00f3n de nueva generaci\u00f3n para analizar expansiones repetitivas en trastornos gen\u00e9ticos.<\/p>\n
Bionano Genomics (BNGO)<\/b>\ub294 Genome Research\uc5d0 \ub3d9\ub8cc \uac80\ud1a0\ub97c \uac70\uce5c \uc5f0\uad6c\ub97c \ubc1c\ud45c\ud558\uc5ec \uad11\ud559 \uc720\uc804\uccb4 \ub9e4\ud551(OGM)\uc774 \uc720\uc804 \uc9c8\ud658\uacfc \uad00\ub828\ub41c \ub300\uaddc\ubaa8 \ubc18\ubcf5 \ud655\uc7a5\uc744 \uac10\uc9c0\ud558\ub294 \ub370 \ud6a8\uacfc\uc801\uc784\uc744 \uc785\uc99d\ud588\uc2b5\ub2c8\ub2e4. \uc774 \uc5f0\uad6c\ub294 Radboud University Medical Center\uc5d0\uc11c \uc218\ud589\ub418\uc5c8\uc73c\uba70, \uadfc\uc774\uc601\uc591\uc99d\uacfc CANVAS \uc99d\ud6c4\uad70\uacfc \uad00\ub828\ub41c \uc138 \uc720\uc804\uc790\uc758 \ubcd1\uc6d0\uc131 \ud655\uc7a5\uc774 \uc54c\ub824\uc9c4 85\uba85\uc758 \ub300\uc0c1\uc790\ub97c \ud3c9\uac00\ud588\uc2b5\ub2c8\ub2e4.<\/p>\n
\uc5f0\uad6c\ub294 \uc8fc\uc694 \uacb0\uacfc<\/b>\ub97c \ubc1d\ud614\uc2b5\ub2c8\ub2e4:<\/p>\n
- \n
- 98.8%\uc758 \uac80\ucd9c \uc815\ud655\ub3c4(85\uac74 \uc911 84\uac74)<\/li>\n
- 7,000\ub2e8\uc704\ub97c \ucd08\uacfc\ud558\ub294 \ubc18\ubcf5 \ud06c\uae30\uae4c\uc9c0 \uc815\ud655\ud55c \uce21\uc815<\/li>\n
- 85\uac1c \uc0d8\ud50c \uc911 36\uac1c\uc5d0\uc11c \uccb4\uc138\ud3ec \ubd88\uc548\uc815\uc131 \uac10\uc9c0<\/li>\n
- \uc5ec\ub7ec \uc720\uc804\uc790 \uc704\uce58\ub97c \uc544\uc6b0\ub974\ub294 \ub2e8\uc77c \uc885\ud569 \uac80\uc0ac \uac00\ub2a5<\/li>\n<\/ul>\n
\uc774 \uc5f0\uad6c\ub294 OGM\uc774 \uc720\uc804 \uc9c8\ud658\uc758 \ubc18\ubcf5 \ud655\uc7a5 \ubd84\uc11d\uc5d0 \uc788\uc5b4 PCR, Southern blotting, \ucc28\uc138\ub300 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\uacfc \uac19\uc740 \uc804\ud1b5\uc801\uc778 \ubc29\ubc95\ubcf4\ub2e4 \ube44\uc6a9 \ud6a8\uc728\uc801\uc774\uace0 \ud6a8\uc728\uc801\uc778 \ub300\uc548\uc774 \ub420 \uc218 \uc788\uc74c\uc744 \uc2dc\uc0ac\ud569\ub2c8\ub2e4.<\/p>\n
Bionano Genomics (BNGO)<\/b> a publi\u00e9 une \u00e9tude \u00e9valu\u00e9e par des pairs dans Genome Research d\u00e9montrant l’efficacit\u00e9 du cartographie optique du g\u00e9nome (OGM) pour d\u00e9tecter de grandes expansions r\u00e9p\u00e9t\u00e9es li\u00e9es \u00e0 des troubles g\u00e9n\u00e9tiques. La recherche, men\u00e9e au Radboud University Medical Center, a \u00e9valu\u00e9 85 sujets pr\u00e9sentant des expansions pathog\u00e8nes connues dans trois g\u00e8nes associ\u00e9s \u00e0 la dystrophie myotonique et au syndrome CANVAS.<\/p>\n
Cette \u00e9tude a r\u00e9v\u00e9l\u00e9 des r\u00e9sultats cl\u00e9s<\/b> :<\/p>\n
- \n
- Pr\u00e9cision de d\u00e9tection de 98,8 % (84 cas sur 85)<\/li>\n
- Mesure pr\u00e9cise des tailles de r\u00e9p\u00e9titions, m\u00eame au-del\u00e0 de 7 000 unit\u00e9s<\/li>\n
- D\u00e9tection d’instabilit\u00e9 somatique dans 36 \u00e9chantillons sur 85<\/li>\n
- Capacit\u00e9 d’un test unique et complet sur plusieurs loci<\/li>\n<\/ul>\n
La recherche sugg\u00e8re que l\u2019OGM pourrait offrir une alternative plus rentable et efficace aux m\u00e9thodes traditionnelles telles que la PCR, le Southern blotting et le s\u00e9quen\u00e7age nouvelle g\u00e9n\u00e9ration pour l\u2019analyse des expansions r\u00e9p\u00e9t\u00e9es dans les troubles g\u00e9n\u00e9tiques.<\/p>\n
Bionano Genomics (BNGO)<\/b> hat eine peer-reviewed Studie in Genome Research ver\u00f6ffentlicht, die die Wirksamkeit der optischen Genomkartierung (OGM) bei der Erkennung gro\u00dfer Repeat-Expansionen, die mit genetischen Erkrankungen in Verbindung stehen, zeigt. Die Forschung, durchgef\u00fchrt am Radboud University Medical Center, bewertete 85 Probanden mit bekannten pathogenen Expansionen in drei Genen, die mit Myotonischer Dystrophie und dem CANVAS-Syndrom assoziiert sind.<\/p>\n
Die Studie zeigte wichtige Ergebnisse<\/b>:<\/p>\n
- \n
- 98,8% Erkennungsgenauigkeit (84 von 85 F\u00e4llen)<\/li>\n
- Pr\u00e4zise Messung der Repeats-Gr\u00f6\u00dfen, selbst \u00fcber 7.000 Einheiten hinaus<\/li>\n
- Nachweis somatischer Instabilit\u00e4t in 36 von 85 Proben<\/li>\n
- Einzelner umfassender Test \u00fcber mehrere Loci<\/li>\n<\/ul>\n
Die Forschung legt nahe, dass OGM eine kosteng\u00fcnstigere und effizientere Alternative zu traditionellen Methoden wie PCR, Southern Blotting und Next-Generation-Sequencing f\u00fcr die Analyse von Repeat-Expansionen bei genetischen Erkrankungen darstellen k\u00f6nnte.<\/p>\n
Positive<\/p>\n
- High accuracy rate of 98.8% in detecting pathogenic repeat expansions<\/li>\n
\n <\/p>\n - Technology demonstrates capability to measure extremely long expansions (>7,000 repeat units)<\/li>\n
\n <\/p>\n - Single comprehensive assay potential reduces costs and turnaround time compared to traditional methods<\/li>\n
\n <\/p>\n - Publication in prestigious peer-reviewed journal (Genome Research) validates technology<\/li>\n
\n \n <\/ul>\nNegative<\/p>\n
- Technology missed detection in 1 out of 85 cases (1.2% failure rate)<\/li>\n
\n \n <\/ul>\n<\/p>\n
\n Insights \n <\/p>\n
\n <\/p>\nPeer-reviewed study validates OGM’s 98.8% accuracy for detecting repeat expansions linked to genetic disorders, demonstrating technical capabilities for clinical applications.<\/b><\/p>\n
This peer-reviewed publication<\/b> in Genome Research provides substantial validation for Bionano’s optical genome mapping (OGM) technology in addressing a clinically significant challenge: accurately detecting and sizing repeat expansions associated with genetic disorders. The study’s findings are technically impressive, showing 98.8% detection accuracy<\/b> (84\/85 samples) across three important disease-associated genes.<\/p>\n
What’s particularly notable is OGM’s ability to measure extremely long expansions (exceeding 7,000 repeat units<\/b>) without an apparent upper size limit – a significant technical achievement. The technology also revealed somatic instability in 42.3% of samples<\/b>, with varying rates across different genes (30% DMPK, 92% CNBP, 16% RFC1), providing new insights into these disorders’ variable expressivity.<\/p>\n
From a technical perspective, the “single technique workflow” approach represents an important advantage over current methodologies requiring multiple gene-specific assays. Large repeat expansions have been notoriously difficult to analyze with conventional methods like PCR, Southern blotting and next-generation sequencing, creating a diagnostic gap that OGM appears well-positioned to address.<\/p>\n
The technology’s inclusion alongside other studies in Genome Research’s special issue on long-read methods, with specific editorial mention, indicates growing recognition within the scientific community of OGM’s utility for complex genomic analysis challenges.<\/p>\n
Scientific validation of OGM expands potential market applications to 40+ repeat expansion disorders, strengthening Bionano’s position in genetic testing marketplace.<\/b><\/p>\n
This publication represents significant scientific validation for Bionano’s core technology platform in a specific clinical application area with substantial market potential. Repeat expansions are linked to approximately 40 genetic disorders<\/b>, creating a distinct market segment where OGM technology appears to offer technical advantages.<\/p>\n
The demonstrated ability to provide a single, comprehensive assay<\/b> across multiple genetic loci could translate to operational efficiencies in clinical genetics laboratories. While specific cost comparisons aren’t detailed in the article, the potential for reduced turnaround time and lower costs through workflow consolidation represents a compelling value proposition in the resource-constrained diagnostics environment.<\/p>\n
The publication’s connection of OGM to addressing “long-standing challenges in genome analysis” positions the technology as a potential solution to recognized industry problems. The acknowledgment from Genome Research editors enhances the technology’s credibility and could accelerate research adoption.<\/p>\n
For Bionano specifically, this validation in repeat expansion detection diversifies the clinical utility of their platform beyond traditional cytogenetic applications, potentially expanding their addressable market. While the path from research validation to clinical implementation involves additional regulatory and commercial hurdles, this publication strengthens Bionano’s scientific foundation in genetic testing.<\/p>\n
\n <\/p>\n
\n
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\n <\/p>\n04\/23\/2025 – 08:00 AM <\/p>\n
SAN DIEGO, April 23, 2025 (GLOBE NEWSWIRE) — Bionano Genomics, Inc.\u00a0(Nasdaq: BNGO) today announced a peer-reviewed publication in Genome Research demonstrating that optical genome Mapping (OGM) can be an accurate, cost-effective method for detecting and sizing large repeat expansions, which are a class of structural variation (SV) linked to as many as 40 genetic disorders. Led by Alexander Hoischen and researchers at Radboud University Medical Center in the Netherlands, the study provides one of the most comprehensive evaluations to date of OGM as a single workflow for characterizing large repeat expansions. Researchers evaluated 85 subjects containing known pathogenic expansions in three genes, DMPK (associated with myotonic dystrophy (DM) type 1), CNBP (associated with DM type 2), and RFC1 (associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)). DM is\u00a0a genetic condition causing progressive muscle weakness and wasting, affecting both skeletal and smooth muscles and CANVAS is a genetic condition characterized by progressive loss of coordination, sensory nerve damage, and impaired balance reflexes.<\/p>\n
Key Findings:<\/strong><\/p>\n
- \n
- High detection accuracy:<\/strong> OGM identified 84 out of 85 (98.8%) pathogenic repeat expansions.<\/li>\n
- No apparent upper size limit:<\/strong> OGM measured accurately the repeat sizes, even for extremely long expansions exceeding 7,000 repeat units.<\/li>\n
- Somatic instability revealed:<\/strong> Evidence of somatic instability in 36 out of 85 samples, with variability observed in 30% of DMPK samples, 92% of CNBP samples, and 16% of RFC1 samples. These findings provide new insights into the unpredictable nature of these disorders.<\/li>\n
- Single technique workflow:<\/strong> Unlike traditional methods that require multiple gene-specific assays, OGM delivers a single, comprehensive assay that detects large repeat expansions across multiple loci, potentially reducing turnaround times and lowering costs.<\/li>\n<\/ul>\n
This publication appears alongside two other OGM studies in Part II of a series released by Genome Research focusing on long-read methods such as OGM and long-read sequencing (LRS) for genome analysis. In an accompanying editorial, the editors of the series describe how OGM has the potential to address long-standing challenges in genome analysis, from structural variation to paralog resolution and repeat expansion detection, sizing and evaluation of their somatic instability.<\/p>\n
\u201cRepeat expansions are a clinically relevant class of structural variations (SVs). Their size, stability and variability make them challenging to analyze using conventional methods such as PCR, Southern blotting and next-generation sequencing (NGS). LRS may be useful, but LRS can be too costly for routine use,\u201d commented Erik Holmlin, president and CEO of Bionano. \u201cThis study demonstrates how can OGM address a critical limitation in genome analysis and lays the foundation for researchers around the world to broaden their scope of OGM use in research to include this class of SVs, which we believe may pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders.\u201d<\/p>\n
The full research publication is available at: https:\/\/genome.cshlp.org\/content\/early\/2025\/03\/19\/gr.279491.124.full.pdf+html<\/a><\/p>\n
The editorial accompanying the special issue of Genome Research is available at:
https:\/\/genome.cshlp.org\/content\/35\/4\/xi.full.pdf+html<\/a><\/p>\nAbout Bionano <\/strong><\/p>\n
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\u2019s mission is to transform the way the world sees the genome through optical genome mapping (OGM) solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. The Company also offers an industry-leading, platform-agnostic genome analysis software solution, and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d\/b\/a Bionano Laboratories business, the Company also offers OGM-based diagnostic testing services.<\/p>\n
For more information, visit www.bionano.com<\/a> or www.bionanolaboratories.com<\/a>.<\/p>\n
Bionano\u2019s products are for research use only and not for use in diagnostic procedures.<\/p>\n
Forward-Looking Statements of Bionano Genomics<\/strong><\/p>\n
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as \u201cbelieve,\u201d \u201ccan,\u201d \u201cmay,\u201d \u201cpotential\u201d 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 describe future expectations, plans, results, or strategies, among other things, and in this release include, but are not limited to, statements OGM\u2019s ability to be an accurate, cost-effective method for detecting and sizing large repeat expansions; OGM\u2019s ability to identify pathogenic repeat expansions; OGM\u2019s ability to measure accurately expansion sizes, even for extremely long expansions; OGM\u2019s ability to show evidence of somatic instability; OGM\u2019s ability to deliver a single, comprehensive assay that detects large repeat expansions across multiple loci, reducing turnaround times and lowering costs; the ability of OGM to address critical limitations in genomics analysis; the ability of OGM to pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders; and other statements not of historical fact. Such statements are subject to a multitude of risks and uncertainties that could cause future circumstances, events, or results to differ materially from those projected in the forward-looking statements. 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 impact of adverse geopolitical and macroeconomic events, such as bank failures, the ongoing conflicts between Ukraine and Russia and in the Middle East and related sanctions, regional or global pandemics, uncertain market conditions, including tariffs and inflation, and supply chain disruptions on our business and the global economy; the failure of OGM to be an accurate, cost-effective method for detecting and sizing large repeat expansions; the failure of OGM to identify pathogenic repeat expansions; the failure of OGM to measure accurately expansion sizes, even for extremely long expansions; the failure of OGM to show evidence of somatic instability; the failure of OGM to deliver a single, comprehensive assay that detects large repeat expansions across multiple loci, reducing turnaround times and lowering costs; the failure of OGM to address critical limitations in genomics analysis; the failure of OGM to pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders; the inability to achieve results similar to those referenced in this press release using the methods described therein; the failure of the publication referenced in this press release to prove to be an important advancement in repeat expansion research; the failure of the method described in this press release to further open researchers\u2019 ability to expand their OGM menu; future publications that contradict the findings of the publication referenced in this press release; the failure of our ability to drive adoption and utilization of optical genome mapping as a replacement to traditional cytogenetic techniques; challenges inherent in developing, manufacturing and commercializing products; our ability to further deploy new products and applications for our technology platforms; 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 continue as a \u201cgoing concern,\u201d which requires us to manage costs and obtain significant additional financing to fund our strategic plans and commercialization efforts; our ability to consummate any strategic alternatives; the risk that if we fail to obtain additional financing we may seek relief under applicable insolvency laws; and other risks and uncertainties including those described in our filings with the Securities and Exchange Commission (\u201cSEC\u201d), including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2024 and in other filings subsequently made by us with the SEC. All forward-looking statements contained in this report speak only as of the date on which they were made and are based on management\u2019s 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.<\/p>\n
CONTACTS<\/strong>
Company Contact:<\/strong>
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com<\/a><\/p>\n - No apparent upper size limit:<\/strong> OGM measured accurately the repeat sizes, even for extremely long expansions exceeding 7,000 repeat units.<\/li>\n
- High detection accuracy:<\/strong> OGM identified 84 out of 85 (98.8%) pathogenic repeat expansions.<\/li>\n
\n <\/p>\n - Technology missed detection in 1 out of 85 cases (1.2% failure rate)<\/li>\n
\n <\/p>\n - High accuracy rate of 98.8% in detecting pathogenic repeat expansions<\/li>\n
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<\/p>\n