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

Kit: Ligation Sequencing Kit

Authors: Siddhartha Sen, Hillary P. Handler, Alec Victorsen, Zach Flaten, Aidan Ellison, Todd P. Knutson, Sarah A. Munro, Ryan J. Martinez, Charles John Billington, Jennifer J. Laffin, Sarah Bray, Pawel Mroz, Sophia Yohe, Andrew C. Nelson, Matthew Bower, Bharat Thyagarajan