Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis
Short-read sequencing technology struggles to resolve large or complex structural variants, and repetitive or GC-rich regions, meaning multiple types of testing are required, increasing time and costs. In this study, Oxford Nanopore sequencing enabled accurate whole-genome detection of diverse variant types in a single test — resolving cases that short-read methods could not. This approach could offer clinicians a faster, more streamlined testing, and ultimately improve patient outcomes in the future.
'Currently there is no single genotyping platform that can match the overall performance of our ONT-based pipeline in the detection of a wide array of genomic alterations'
Sen and Handler et al. 2025
Sample type: buffy coat samples