Assessing the clinical utility of Oxford Nanopore sequencing | ESHG 2025

In this talk recorded at ESHG 2025, Dr Erika Souche presents new data highlighting how the comprehensive data generated by Oxford Nanopore sequencing can enhance the detection of complex genomic variation.

Biography

Erika Souche is a research scientist and bioinformatician in the laboratory for Cytogenetics and Genome Research (KU Leuven). She studied evolutionary biology during her PhD (Laboratory of Biodiversity and Evolutionary Genomics, KU Leuven) and PostDoc (Institut Pasteur). At the Center for Human Genetics (KU Leuven), 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.

Please note:

This is independent, investigator-led research using Oxford Nanopore technology. Oxford Nanopore products are for research use only, and not for use in diagnostic procedures.