Oxford Nanopore at ESHG 2025
Oxford Nanopore will be at Booth 400 in the exhibit hall at the European Society for Human Genetics Annual Meeting in April, 2025. We will also host a Corporate Session on Monday, 26th May, 2025. Details and registration below.
Corporate Session
Shaping the landscape of rare disease research in Europe
Date: Monday, 26th May, 2025
Time: 12:00 - 13:00 CEST
Location: Amber 7+8
Identifying the molecular cause of rare diseases is critical for enabling improved patient management, guiding treatment options, and providing clarity on prognosis. However, despite the adoption of short-read sequencing in routine diagnostic workflows, more than half of individuals living with a rare disease remain without a genetic answer. One reason is that short-read methods can overlook complex genomic features such as structural variants, repeat expansions, and other large-scale rearrangements. Additionally, methylation studies often require separate assays, adding complexity and time to an already challenging process.
Emerging clinical research now demonstrates that comprehensive long-read sequencing can address these limitations by offering higher resolution and a broader range of variant detection than short-read sequencing — potentially increasing diagnostic yield. Oxford Nanopore Technologies provides a powerful platform for capturing all these challenging variants and base modifications in a single dataset. By integrating multiple layers of genomic information, Oxford Nanopore Technologies supports a streamlined approach from sample preparation to variant interpretation.
In this session, Prof. Olaf Reiss will introduce the European Long Read Innovation Network (ELRIN) consortium, an initiative dedicated to driving the adoption of cutting-edge genomic testing. Their goal is to ensure that advanced tools are readily accessible and practical for potential clinical use across diverse settings. Dr Erika Souche will follow with new data highlighting how the comprehensive data generated by Oxford Nanopore sequencing can enhance the detection of complex genomic variation.
Join us for this workshop to explore the advantages of Oxford Nanopore sequencing for clinical research and discover how more families affected by rare diseases can gain meaningful insights into their conditions.
Agenda
12:00 – 13:00 hrs CEST | Agenda (subject to change) | |
|---|---|---|
12:00 - 12:10 hrs | Welcome | Magali Kemoun, Oxford Nanopore Technologies |
12:10 - 12:30 hrs | ELRIN - A European diagnostic long read Sequencing network | Olaf Rieß, University of Tübingen |
12:30 - 12:50 hrs | Assessing the clinical utility of Oxford Nanopore sequencing | Erika Souche, KU Leuven |
12:50 - 13:00 hrs | Q&A and closing remarks | Magali Kemoun, Oxford Nanopore Technologies |
Corporate Session speakers
Welcome & Closing
Magali Kemoun, VP Sales, EMEAI, Oxford Nanopore Technologies
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ELRIN - A European diagnostic long read Sequencing network
Olaf Rieß, Professor, University of Tübingen
Prof. Riess, MD, is full professor for Medical Genetics and Director of the Institute of Medical Gen...
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Assessing the clinical utility of Oxford Nanopore sequencing
Erika Souche, Research Scientist & Bioinformatician, KU Leuven
Erika Souche is a research scientist and bioinformatician in the laboratory for Cytogenetics and Gen...