Oxford Nanopore at GFH 2025
The Annual Meeting of the German Society of Human Genetics (GfH) is one of the most important events in the field of human genetics in the German-speaking world. It offers scientists, doctors and students the opportunity to exchange information on current research findings, clinical developments, therapy and technological advances.
The conference spans several days and offers a varied programme that includes lectures, poster presentations, workshops and panel discussions. A central component of the conference are the plenary lectures by renowned experts from Germany and abroad, who will provide insights into the latest scientific findings and future developments. In addition, there are specialised sessions in which specific topics are dealt with in depth, as well as poster presentations where young scientists can present their research findings to a wider audience.
Oxford Nanopore will be located at booth 32 within the exhibition.
Workshop
Date: Thursday 3 April, 2025
Time: 11:45 am–12:45 pm CET
Location: Hall Freiburg, GFH Conference
Title: ELRIN unveiled: The European Long-Read Innovation Network, the future of first line genetic testing?
Description: Reconstruction of complex genomic regions containing recent segmental duplications, repeat expansions or complex structural variants has been challenging using short read sequencing methods. These regions, however, potentially harbor a substantial fraction of disease-causing variants missed in unsolved rare disease cases. The introduction of Nanopore long-read genome sequencing (LR-GS) into clinical genetic testing promises to reduce this gap by resolving complex genomic regions, facilitating haplotype-phasing and revealing complex SVs that often consist of closely located inversions, tandem-duplications and deletions. Therefore, we have recently launched The European Long-Read Innovation Network (ELRIN) aiming to evaluate the added diagnostic value of Nanopore sequencing, to demonstrate its sustainability in clinical practice, to develop and share SOPs and bioinformatics tools, and to support genetic testing labs interested in implementing Nanopore sequencing.
In this talk I will focus on our experience with the bioinformatics analysis and benchmarking of Nanopore LR-GS data for rare disease diagnostics, including development and/or application of tools and pipelines for quality control, variant detection, haplotype phasing, identification of repeat expansions, genotyping in duplicate genes, and haplotype-specific DNA methylation analysis (e.g. for imprinting-related diseases). I will discuss our quality criteria and benchmarking efforts and demonstrate the need for generating large Nanopore LR-GS background dataset to facilitate systemic filtering and efficient clinical interpretation of SVs in clinical diagnostics. Finally, I will show preliminary results of Telomere-2-Telomere genome assemblies for the Genomes of Europe project.
Workshop Speaker
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ELRIN unveiled: The European Long-Read Innovation Network, the future of first line genetic testing?
Prof. Dr. Stephan Ossowski
Dr Nicki Adams is a Field Applications Scientist with a background in molecular biology and is based...