ESHG 2025
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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, hosted in Milan, IT. We will also host a Corporate Session on Monday, 26th May, 2025. Details and registration below.
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Corporate Session
Shaping the landscape of rare disease research in Europe
Location: Amber 7+8
Date: Monday, 26th May
Time: 12:00 - 13:00 CEST
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.
Please note, to watch live on 26th or on-demand afterwards, you will need to be registered to the ESHG conference.
Agenda
12:00 – 13:00 hrs CEST | Agenda (subject to change) | |
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12:00 - 12:10 hrs | Deciphering rare diseases and empowering clinical research | Cerissa French, 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 |
Speakers
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Cerissa French, Clinical Sales Director, EMEAI, Oxford Nanopore TechnologiesCerissa French is a Sales Director at Oxford Nanopore Technologies, specializing in clinical applications of next-generation sequencing (NGS). Based in Berlin, Germany, Cerissa and her team play a pivotal role in advancing the adoption of nanopore sequencing technologies within clinical settings in Europe, Middle East, Africa and India.
Cerissa’s academic background includes a Bachelor of Biomedical Science (Hons) and a Master of Business Administration (MBA) from institutions in Australia. Her education, combined over 20 years professional experience, equips her with a unique perspective on the intersection of science and business, enabling her to effectively bridge the gap between complex genomic technologies and their practical applications in healthcare.
Cerissa is commitment to enhancing health care through the implementation of cutting-edge sequencing technologies.
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Olaf Rieß, Professor, University of TübingenProf. Riess, MD, is full professor for Medical Genetics and Director of the Institute of Medical Genetics and Applied Genomics. He is also founder and acting director of the Rare Disease Center Tübingen. He has more than 20 years of experience in clinical genetics and research of genetically caused disorders. He currently is and has been coordinator of numerous international, European and national funded consortia such as EUROSCA, MEFOPA, TECHGENE, RATstream, Neuromics, and SOLVE-RD (together with Holm Graessner). He is also PI and spokesperson of one of four DFG funded NGS Competence Centers in Germany. OR serves in numerous advisory boards such as the German initiative for Rare Diseases (NAMSE), the EFSN task force on spinocerebellar ataxias, the executive member of the Ataxia study group (ASG), as a board member of the International Rare Disease Research Consortium IRDiRC (Diagnostics Scientific Committee), the rare disease working group of the 1+MG project, and most recently to the Ministry of Health on the implementation of genome diagnostics into the health care system (genomDE).
For several years he was also a board member of the study section Neuroscience (Fachgutachter) of the German Research Foundation (DFG) and an associated Member of the Commission on genetic diagnostics (Gendiagnostik-Kommission) of the Ministry of Health (BfG). He is an active member of three European Reference Networks (ERNs). From 2016 to 2017 he served as President of the European Society of Human Genetics (ESHG). From June 2021 to March 2023 he served as President of the German Human Genetics Society. Published >500 papers.
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Erika Souche, Research Scientist & Bioinformatician, KU LeuvenErika Souche is a research scientist and bioinformatician in the laboratory for Cytogenetics and Genome Research (KULeuven). She studied evolutionary biology during her PhD (laboratory of biodiversity and evolutionary genomics, KULeuven) and PostDoc (Institut Pasteur). At the Center for Human Genetics (KULeuven), Erika worked on the implementation and validation of NGS tests for the diagnosis of constitutional disorders. She is now using long read technologies to study complex regions such as the 22q11 region and assess the implementation of long read technologies in diagnostics.
On-booth activities
Saturday, 24th May | Sunday, 25th May | Monday, 26th May |
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10:15 hrs — Resolving complex haplotypes in PGx genes Hayley Greenfield, Oxford Nanopore Technologies | 10:15 hrs — A tour of the dark genome Heather Jeffery, Oxford Nanopore Technologies | 10:15 am — Enhanced assembly insights with Oxford Nanopore sequencing Heather Jeffery, Oxford Nanopore Technologies |
12:30 hrs — EPI2ME updates: Oxford Nanopore Technologies' comprehensive analysis platform Sirisha Hesketh, Oxford Nanopore Technologies | 12:15 hrs — Resolving complex haplotypes in PGx genes Hayley Greenfield, Oxford Nanopore Technologies | 12:15 pm — EPI2ME updates: Oxford Nanopore Technologies' comprehensive analysis platform Sirisha Hesketh Oxford Nanopore Technologies |
16:15 hrs — Enhanced assembly insights with Oxford Nanopore sequencing Heather Jeffery, Oxford Nanopore Technologies | 15:15 hrs – Clinical and research applications of long-read sequencing Danny Miller, Universty of Washington | 15:45 hrs — Resolving complex haplotypes in PGx genes Hayley Greenfield, Oxford Nanopore Technologies |
15:30 hrs - 16:30 hrs – Booth drinks reception |
Clinical and research applications of long-read sequencing
Prof. Danny Miller, University of Washington, will present on the Oxford Nanopore booth between 15:30 – 16:30 hrs on Sunday 25th May.
In this talk, Prof. Miller will discuss clinical and research uses of long-read sequencing, including the development of control databases, and provide examples of clinically relevant variants missed by prior testing.
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Resolving complex haplotypes in PGx genes
In this workflow, we demonstrate a targeted pharmacogenomics approach that combines the Twist Alliance Long-Read PGx Panel with Oxford Nanopore sequencing. This method enables high-throughput, long-read analysis of up to 48 multiplexed samples per PromethION flow cell. The approach provides accurate resolution of complex haplotypes in PGx genes from patient-derived cell lines, supporting comprehensive pharmacogenomic profiling.
EPI2ME updates: Oxford Nanopore Technologies' comprehensive analysis platform
This demo will provide an update on EPI2ME, ONT's comprehensive platform offering an intuitive interface for running analysis workflows both locally and in the cloud. We'll highlight recent developments, new features, and show how EPI2ME streamlines human genomic analysis.
Enhanced assembly insights with Oxford Nanopore sequencing
This presentation will provide n insight into the different assembly outputs that can be achieved with different sequencing kits.
A tour of the dark genome
In this talk, we will discuss a range of challenging medically relevant genes, including some with homologous regions and others with repeat expansions. In particular, we will walk through an analysis of a trio of FXN cell lines
On-booth drinks reception
Join the Oxford Nanopore team and other nanopore users at Booth 400 to chat about current applications of our technology!
Date: Sunday, 25th May, 2025
Time: 15:30 – 16:30 CEST
Location: Booth 400, Exhibit Hall, Level 2
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