Enriching for answers in rare diseases

Rare diseases affect one in 20 people globally, with many people remaining undiagnosed. For the best outcomes, rapid and accurate diagnosis of genetic variants is required; however, current methods are time-consuming and cannot access the entire genome. Here, the authors performed trio analysis with Oxford Nanopore sequencing and adaptive sampling, a targeted sequencing method. Analysing research samples from 13 patients with a rare disease, de novo and inherited variants were accurately detected, and causative variants were identified in 77% of cases. Furthermore, sequencing costs were halved by running three samples on one flow cell. These findings demonstrate a scalable and cost-effective sequencing method for rare diseases, potentially helping patients receive an accurate diagnosis for better care.

Sample type: peripheral blood

Kit: Native Barcoding Kit and the Ligation Sequencing Kit