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
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 |
Title | Author |
Institution |
| C01.06 | Gene-pseudogene inversions as a source of missing heritability | Università |
|
| W05.4 | Mobile element insertions in disease: an overlooked diagnostic challenge | ||
| P01.073.A | Uncovering novel structural variants in pediatric low grade gliomas | Ann & |
|
| P14.009.A |
Cohort of 90 patients mainly affected by neurodevelopmental delay analyzed using optical genome mapping (OMG) technique in constitutional cytogenomics | Stephane Bezieau |
|
| P14.017.A |
Breakpoint mapping in balanced chromosomal rearrangements allows insights into the molecular underpinnings of rare diseases | Universidade Federal de São Paulo, |
|
| P01.006.B |
Optical Genome Mapping in hematological malignancies: is it time for conventional cytogenetic approaches to stand aside? | Chiara Mongodi |
|
| P13.018.B | Dissecting Pitt-Hopkins syndrome into independent molecular categories, and first evidence of genetic heterogeneity of the condition: analysis of a large cohort of patients | ||
| P14.022.B |
Optical genome mapping and long-read sequencing unravel the mechanisms and phenotypic implications of constitutional complex chromosomal rearrangements | Bruna Burssed |
Universidade Federal de São Paulo, |
| P14.038.B | Heterochromatin Dynamics: Unraveling its Role in Phenotypic Modulation | Fatma MAAZOUN | |
| P17.025.B | Genomic analysis of early-onset Parkinson's disease using long-read sequencing and optical genome mapping | ||
| 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 |
||
| P11.064.C |
Uncovering hidden causes in developmental epileptic encephalopathy: high resolution structural variant detection with optical genome mapping | ||
| P13.031.C | Complete pseudoanodontia resulting from genomic rearrangement of the SHH locus |
||
| 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 SLC6A8 | CHU Dijon Bourgogne, |
|
| P14.039.C |
Defining breakpoint regions with Optical Genome Mapping (OGM) |
||
| P15.009.D |
Diagnostic improvement of rare diseases through Optical Genome Mapping in the SpainUDP Undiagnosed Cases program | Estrella López-Martín |
Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, |
| P16.017.D | Diagnostic utility of optical genome mapping in constitutional cases - a single institutional experience | ||
| EP04.022 | Improved variant detection using long-read sequencing and optical mapping: illustration in STRC-related hearing loss | Michel Guipponi |
University Hospitals of |
| EP14.019 | Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9Agene in Individuals with congenital insensitivity to pain | Aïcha Boughalem |
|
| 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, |
| EP23.012 |
Optical Genome Mapping allows decoding the clinical significance of a balanced inversion on chromosome X that dysregulates POU3F4 |
Cristina Hernando-Davalillo |
|
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,
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
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
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
CONTACTS
Company Contact:
+1 (858) 888-7610
eholmlin@bionano.com
Investor Relations:
+1 (858) 888-7625
Source: Bionano Genomics