Nanopore Sequencing in Clinical Settings: Insights from UMC Utrecht

Marcel Nelen from the UMC Utrecht in the Netherlands, spoke at London Calling 2025 on “Nanopore sequencing: a newbie’s perspective on needs in a clinical setting.” The Genome Diagnostics section at UMC Utrecht is a genome diagnostic center that works under ISO accreditation. All the tests are accredited by the Dutch accreditation council. Nelen noted that they have a rich history in next-generation sequencing in diagnostics. The team wants to build robust high-throughput sequencing using long-read whole genome sequencing workflows. The FemtoPulse from Agilent is used to quantify DNA from a 96-sample prep. The second module Nelen described was the Volta Labs Callisto that is a bench top electro wetting device for library prep. The third module is the use of Oxford Nanopore Technologies and EPI2ME. The fourth module is the use of some third party companies for analyses. Nelen noted that they aim for 25-30x lrWGS using a single flow cell without washing or reloading during a 72 hour sequencing because of the risk from washing and reloading! The fragment length is an N50 between 15-20 kb and >90 Gbases of data. Nelen shared progress on runs as well as the throughput from older/newer flow cells. Nelen also noted that ONT has promised chemistry and flow cells with greater throughput. From the first 100 flow cells, Nelen and team have learned and established a routine for testing clinical samples on nanopore flow cells.

How does UMC Utrecht incorporate ONT into clinical testing? AI-generated image.