Nanopore sequencing in critically ill patients and rare diseases

Nanopore long-read sequencing is transforming genomic research by enabling a more comprehensive characterisation of the genome and a more accurate interpretation of complex genetic variation. From rapid diagnosis in critically ill patients to solving rare disease cases that remain undiagnosed despite extensive genetic testing, the technology offers new opportunities to improve diagnostic yield and accelerate clinical decision-making. In this course, the presenters review the principles and potential applications of nanopore sequencing across different clinical settings. Participants will explore its potential role in critical care, where rapid molecular diagnosis can directly influence patient management, as well as its ability to detect structural variants, repeat expansions, epigenetic alterations, and other complex genomic signatures. The course also examines its contribution to rare disease diagnosis, highlighting real-world case studies, the impact of long-read sequencing on reducing the diagnostic odyssey, and future perspectives for integrating multi-omics approaches into clinical practice.