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Bionano Recaps Global Momentum Behind Optical Genome Mapping at the 2025 Annual Meeting of the European Society of Human Genetics Held Recently in Milan, Italy

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Bionano Genomics (BNGO) showcased significant momentum for its Optical Genome Mapping (OGM) technology at the 2025 European Society of Human Genetics conference in Milan. The event featured 21 studies from 12 countries demonstrating OGM's effectiveness in detecting structural variants (SVs) across various genetic conditions. Research presentations covered applications in constitutional disorders, hematological malignancies, and solid tumors. Notable studies included investigations into gene-pseudogene inversions, mobile element insertions, pediatric low-grade gliomas, and neurodevelopmental delays. The presentations highlighted OGM's capability to identify SVs that might be missed by traditional cytogenetic and sequencing methods, with research contributions from prestigious institutions worldwide.
Bionano Genomics (BNGO) ha mostrato un notevole slancio per la sua tecnologia Optical Genome Mapping (OGM) durante la conferenza 2025 della European Society of Human Genetics a Milano. L'evento ha presentato 21 studi provenienti da 12 paesi che dimostrano l'efficacia dell'OGM nell'individuare varianti strutturali (SV) in diverse condizioni genetiche. Le presentazioni di ricerca hanno coperto applicazioni in disturbi costituzionali, neoplasie ematologiche e tumori solidi. Studi rilevanti hanno incluso indagini su inversioni gene-pseudogene, inserzioni di elementi mobili, gliomi pediatrici a basso grado e ritardi nello sviluppo neuroevolutivo. Le presentazioni hanno evidenziato la capacità dell'OGM di identificare SV che potrebbero sfuggire ai metodi tradizionali di citogenetica e sequenziamento, con contributi di ricerca provenienti da istituzioni prestigiose a livello mondiale.
Bionano Genomics (BNGO) mostró un impulso significativo para su tecnología Optical Genome Mapping (OGM) en la conferencia 2025 de la European Society of Human Genetics en Milán. El evento incluyó 21 estudios de 12 países que demostraron la efectividad del OGM para detectar variantes estructurales (SV) en diversas condiciones genéticas. Las presentaciones de investigación abarcaron aplicaciones en trastornos constitucionales, malignidades hematológicas y tumores sólidos. Estudios destacados incluyeron investigaciones sobre inversiones gen-pseudogen, inserciones de elementos móviles, gliomas pediátricos de bajo grado y retrasos en el desarrollo neuroconductual. Las presentaciones resaltaron la capacidad del OGM para identificar SV que podrían pasar desapercibidas con métodos tradicionales de citogenética y secuenciación, con contribuciones de instituciones prestigiosas a nivel mundial.
Bionano Genomics(BNGO)는 2025년 밀라노에서 열린 유럽인간유전학회(European Society of Human Genetics) 회의에서 광학 게놈 매핑(Optical Genome Mapping, OGM) 기술의 큰 진전을 선보였습니다. 이번 행사에는 12개국에서 온 21개의 연구가 참여하여 다양한 유전 질환에서 구조 변이(Structural Variants, SV)를 탐지하는 OGM의 효능을 입증했습니다. 연구 발표는 헌법성 질환, 혈액 악성종양, 고형 종양에 대한 적용을 다루었으며, 유전자-유사 유전자 역위, 이동성 요소 삽입, 소아 저등급 교모세포종, 신경발달 지연에 관한 주목할 만한 연구가 포함되었습니다. 발표들은 전통적인 세포유전학 및 시퀀싱 방법으로는 발견하기 어려운 SV를 OGM이 식별할 수 있음을 강조했으며, 전 세계 유수 기관들의 연구 기여가 포함되었습니다.
Bionano Genomics (BNGO) a démontré un élan significatif pour sa technologie Optical Genome Mapping (OGM) lors de la conférence 2025 de la European Society of Human Genetics à Milan. L'événement a présenté 21 études provenant de 12 pays, illustrant l'efficacité de l'OGM dans la détection des variants structuraux (SV) dans diverses conditions génétiques. Les présentations de recherche ont couvert des applications dans les troubles constitutionnels, les hémopathies malignes et les tumeurs solides. Parmi les études notables figuraient des investigations sur les inversions gène-pseudogène, les insertions d'éléments mobiles, les gliomes pédiatriques de bas grade et les retards neurodéveloppementaux. Les présentations ont mis en lumière la capacité de l'OGM à identifier des SV qui pourraient être manqués par les méthodes cytogénétiques et de séquençage traditionnelles, avec des contributions de recherche provenant d'institutions prestigieuses à travers le monde.
Bionano Genomics (BNGO) präsentierte auf der Konferenz der European Society of Human Genetics 2025 in Mailand eine bedeutende Dynamik für seine Optical Genome Mapping (OGM)-Technologie. Die Veranstaltung zeigte 21 Studien aus 12 Ländern, die die Wirksamkeit von OGM bei der Erkennung struktureller Varianten (SVs) in verschiedenen genetischen Erkrankungen demonstrierten. Die Forschungspräsentationen umfassten Anwendungen bei konstitutionellen Störungen, hämatologischen Malignomen und soliden Tumoren. Bemerkenswerte Studien beinhalteten Untersuchungen zu Gen-Pseudogen-Inversionen, mobilen Elementeinfügungen, pädiatrischen niedriggradigen Gliomen und neuroentwicklungsbedingten Verzögerungen. Die Präsentationen hoben die Fähigkeit von OGM hervor, SVs zu identifizieren, die von traditionellen zytogenetischen und Sequenzierungsmethoden möglicherweise übersehen werden, mit Forschungsbeiträgen renommierter Institutionen weltweit.
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Insights

Bionano's OGM technology gaining scientific validation with 21 studies from 12 countries presented at major European genetics conference.

The scientific validation demonstrated at ESHG 2025 represents meaningful progress for Bionano's optical genome mapping (OGM) technology. The presentation of 21 studies across 12 countries highlights growing international adoption of their platform in identifying structural variants (SVs) that traditional cytogenetic and sequencing methods often miss.

Particularly notable is the diversity of applications showcased - from constitutional disorders to hematological malignancies and solid tumors. The research spans prestigious institutions across Europe, North America, and Asia Pacific, demonstrating global market penetration beyond Bionano's home US market.

The studies presented offer compelling evidence of OGM's clinical utility. For example, research from Vancouver General Hospital reported on OGM's implementation as a first-line diagnostic test in acute leukemia, suggesting progression from research applications to clinical adoption. Similarly, the Hospital for Sick Children in Toronto presented on OGM's diagnostic utility in constitutional cases.

These presentations signal that OGM is gaining recognition as a complementary or potentially superior technology to existing genetic analysis methods. The data suggests Bionano's technology effectively addresses the critical challenge of identifying complex structural variants - a capability that could drive continued adoption in both research and clinical settings. While this conference recap doesn't provide financial metrics, the breadth of international research validates Bionano's technology platform and suggests growing market acceptance that could translate to future revenue growth.

SAN DIEGO, June 18, 2025 (GLOBE NEWSWIRE) -- Bionano Genomics (NASDAQ: BNGO) recently participated in the European Society of Human Genetics (ESHG) conference held in Milan, Italy, from May 24-27, 2025. The   event highlighted the use of optical genome mapping (OGM) in genetic disease research, with numerous presentations and posters emphasizing its utility in detecting structural variants (SVs) associated with genetic diseases – including constitutional disorders, hematological malignancies and solid tumors.

Key Highlights from ESHG 2025:

Scientific Presentations and Posters: A total of 21 studies with authors representing 12 different countries were presented – either oral presentations or posters – demonstrating the effectiveness of OGM in identifying SVs that can often be missed by traditional cytogenetic and sequencing methods. These findings underscore OGM's potential for addressing complex, unresolved genetic conditions.

Talk/
Poster
TitleAuthor
Institution
C01.06Gene-pseudogene inversions as a source of missing heritabilityStefano FacchiniUniversity College London, United Kingdom
Università di Pavia, Italy
W05.4Mobile element insertions in disease: an overlooked diagnostic challengeRobin WijngaardRadboud University Medical Center, Netherlands
P01.073.AUncovering novel structural variants in pediatric low grade gliomasMiriam BornhorstAnn & Robert Lurie Children's Hospital of Chicago, USA
P14.009.A
Cohort of 90 patients mainly affected by neurodevelopmental delay analyzed using optical genome mapping (OMG) technique in constitutional cytogenomicsStephane Bezieau
CHU Nantes, France
P14.017.A
Breakpoint mapping in balanced chromosomal rearrangements allows insights into the molecular underpinnings of rare diseasesMichael Wendel Da Silva
Universidade Federal de São Paulo, Brazil
P01.006.B
Optical Genome Mapping in hematological malignancies: is it time for conventional cytogenetic approaches to stand aside?Chiara Mongodi
Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy
P13.018.BDissecting Pitt-Hopkins syndrome into independent molecular categories, and first evidence of genetic heterogeneity of the condition: analysis of a large cohort of patientsGiuseppe Marangi
Institute of Genomic Medicine, Università Cattolica del Sacro Cuore, Roma, Italy
P14.022.B
Optical genome mapping and long-read sequencing unravel the mechanisms and phenotypic implications of constitutional complex chromosomal rearrangementsBruna Burssed
Universidade Federal de São Paulo, Brazil
Radboud University Medical Center, Netherlands
P14.038.BHeterochromatin Dynamics: Unraveling its Role in Phenotypic ModulationFatma MAAZOUNCochin Hospital, APHP Center, University Paris Cité, France
P17.025.BGenomic analysis of early-onset Parkinson's disease using long-read sequencing and optical genome mappingAndré Fienemann
Institute of Neurogenetics, University of Lübeck, Germany
P01.015.C
Impact of optical genome mapping in acute leukemia diagnosis - insights following one-year of clinical deployment as a first-line diagnostic test
Tara Spence
Vancouver General Hospital, Canada
University of British Columbia, Vancouver, Canada
P11.064.C
Uncovering hidden causes in developmental epileptic encephalopathy: high resolution structural variant detection with optical genome mappingEsra Isik
Ege University Department of Pediatrics, Izmir, Turkey
P13.031.CComplete pseudoanodontia resulting from genomic rearrangement of the SHH locus
Kristjan A. Ragnarsson
Landspitali University Hospital, Reykjavik, Iceland
P14.027.C
The integration of short and long read genome sequencing alongside optical mapping in the discovery of a mitochondrial insertion in the gene SLC6A8Michaela Rendek
CHU Dijon Bourgogne, France
P14.039.C
Defining breakpoint regions with Optical Genome Mapping (OGM)
Hui Yi Yon
KK Women's and Children's Hospital, Singapore
P15.009.D
Diagnostic improvement of rare diseases through Optical Genome Mapping in the SpainUDP Undiagnosed Cases programEstrella López-Martín
Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain
P16.017.DDiagnostic utility of optical genome mapping in constitutional cases - a single institutional experienceNicole Park
Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, Canada
EP04.022Improved variant detection using long-read sequencing and optical mapping: illustration in STRC-related hearing lossMichel Guipponi
University Hospitals of Geneva, Switzerland
EP14.019Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9Agene in Individuals with congenital insensitivity to painAïcha Boughalem
CERBA, Frépillon, France
EP14.023
Characterization of an trpinvdupdel rearrangement on chromosome 4 in a fetus using Bionano® Optical Genome Mapping technology
Emma-Naoual Benbakir
CHU Nantes-Hôtel Dieu, France
EP23.012
Optical Genome Mapping allows decoding the clinical significance of a balanced inversion on chromosome X that dysregulates POU3F4
Cristina Hernando-Davalillo
SJD Barcelona Children's Hospital, Barcelona, Spain
    

The scientific program for the event is available at the ESHG website linked here https://cattendee.abstractsonline.com/meeting/21105/pages/Scientific_Programme?view=appendToCards&initialSearchId=1&searchId=1

“ESHG is the premier conference dedicated to genetics and genomics research on the European calendar. This year, the 2025 conference provided a platform to witness firsthand the growing recognition of OGM across the European scientific community and beyond, including content from US, Canada and Asia Pacific regions. We believe the significant number of presentations and posters highlighting OGM's capabilities in detecting structural variants provide evidence for the growing global adoption of OGM and it’s use in our commitment to advancing genomic research,” commented Dr. Erik Holmlin, Bionano’s president & chief executive officer.

For more information on Bionano’s OGM solutions, visit www.bionano.com.

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 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.

For more information, visit www.bionano.com or www.bionanolaboratories.com.

Bionano’s products are for research use only and not for use in diagnostic procedures.

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “believe,” “can,” “capability,” “potential” 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 regarding OGM’s utility in detecting SVs associated with genetic diseases, including constitutional disorders, hematological malignancies and solid tumors; the effectiveness of OGM in identifying SVs missed by traditional cytogenetic and sequencing methods; OGM's potential for addressing complex, unresolved genetic conditions; the growth and global adoption of OGM; and any 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. Accordingly, investors and prospective investors are cautioned not to place undue reliance on these forward-looking statements as they involve inherent risk and uncertainty (both general and specific) and should note that they are provided as a general guide only and should not be relied on as an indication or guarantee of future performance. 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 failure of OGM to be useful in detecting SVs associated with genetic diseases, including constitutional disorders, hematological malignancies and solid tumors; the failure of OGM to be effective in identifying SVs missed by traditional cytogenetic and sequencing methods; the failure of OGM to address complex, unresolved genetic conditions; the failure of OGM adoption to grow and increase in global adoption; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts and our ability to continue as a “going concern,” which requires us to manage costs and obtain significant additional financing to fund our strategic plans and commercialization efforts; the risk that if we fail to obtain additional financing we may seek relief under applicable insolvency laws; the impact of adverse geopolitical and macroeconomic events, such as the ongoing conflicts between Ukraine and Russia and Israel and Gaza and uncertain market conditions, including inflation, tariffs, and supply chain disruptions, on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; changes in our strategic and commercial plans; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; study results that differ or contradict the results mentioned in this press release; 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, 2024 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. 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.

CONTACTS
Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com

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


FAQ

What was the focus of Bionano Genomics' presentations at ESHG 2025?

At ESHG 2025, Bionano showcased 21 studies from 12 countries demonstrating the effectiveness of their Optical Genome Mapping technology in detecting structural variants across various genetic conditions, including constitutional disorders, hematological malignancies, and solid tumors.

How many research studies featuring BNGO's Optical Genome Mapping were presented at ESHG 2025?

A total of 21 studies from authors representing 12 different countries were presented at ESHG 2025, either as oral presentations or posters.

What are the main applications of Bionano's OGM technology highlighted at ESHG 2025?

The main applications highlighted included detecting structural variants in genetic diseases, constitutional disorders, hematological malignancies, solid tumors, and identifying variants that are often missed by traditional cytogenetic and sequencing methods.

Where was the 2025 European Society of Human Genetics conference held?

The 2025 European Society of Human Genetics conference was held in Milan, Italy, from May 24-27, 2025.
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