Long-read sequencing identifies disease-causing variation in difficult-to-study genomic regions

Around 50% of genetic disease remain undiagnosed with regards to their underlying genetic abnormality, despite extensive genetic testing. Danny will discuss the future potential of nanopore sequencing technology to improve this diagnostic rate, demonstrating how on-device targeted sequencing (adaptive sampling) could be used to identify and phase complex disease-causing variants and simultaneously detect abnormal methylation status.