Oxford Nanopore 24-hour whole-genome sequencing for paediatric rare disease research

Overview

Rare diseases often have a genetic cause, typically requiring multiple costly genomic assays to identify the pathogenic variant. Legacy short-read sequencing methods can provide whole-genome sequencing; however, turnaround time is lengthy, and 8% of the genome is challenging to sequence due to repetitive and complex regions.

In this flyer, discover how the Oxford Nanopore rapid whole-genome sequencing workflow is delivering fast, actionable results in 24 hours from sample collection.