Moving Us Forward
We look forward to connecting with you in Milan, Italy, for the European Society of Human Genetics annual conference (ESHG)! ESHG is the major scientific and professional event in human genetics which brings together European and international geneticists. Bionano attends as we are committed to elevating human health by advancing genomic research.
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Learn
Workshop: Structural Chromosomal Variants
Connect
At Booth #356
Learn
Join us for an engaging workshop on Sunday, May 25, 2025 at 8:30 CEST, exploring the latest in structural variant (SV) detection and classification, including copy number variants (CNVs). Experts will share insights from genome-wide array analysis and (whole) exome/genome sequencing, along with cutting-edge findings from Optical Genome Mapping. Don’t miss this opportunity to deepen your understanding of multi-, intra-, and intergenic SVs and CNVs across multiple technologies.
Booth #356
Stop by to learn how Stratys™ is transforming structural variant detection and interpretation. Whether you’re curious about Optical Genome Mapping or want to dive deeper into our end-to-end solutions, our team is ready to connect. See you there!
Don’t miss the latest research at the Poster Sessions!
Poster Sessions| POSTER | TITLE | LEAD AUTHOR |
|---|---|---|
| P14.009.A | Cohort of 90 patients mainly affected by neurodevelopmental delay analyzed using optical genome mapping (OMG) technique in constitutional cytogenomics |
Martine Doco-Fenzy
CHU-Reimsgenetics, Reims, France |
| 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, 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, Bergamo, Italy |
| P17.025.B | Genomic analysis of early-onset Parkinson’s disease using long-read sequencing and optical genome mapping |
André Fienemann
University of Lübeck, Lübeck, Germany |
| P15.009.D | Improvement of rare diseases through Optical Genome Mapping in the SpainUDP Undiagnosed Cases program |
Estrella-López-Martín
Instituto de Salud Carlos III, Madrid, Spain |
| P16.017.D | Utility of optical genome mapping in constitutional cases – a single institutional experience |
Nicole Park
The Hospital for Sick Children, Toronto, Canada |
| EP04.022 | Improved variant detection using long-read sequencing and optical mapping: illustration in STRC-related hearing loss |
Michel Guipponi
University Hospitals of Geneva, Geneva, Switzerland |
| 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
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, Nantes, 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 |
