Nanopore long-read sequencing as a first-tier diagnostic test to detect repeat expansions in neurological disorders

Accurate detection of repeat expansions and methylation status is critical to diagnose conditions such as spinocerebellar ataxia and fragile X syndrome. Using targeted Oxford Nanopore sequencing, researchers accurately detected repeat expansions, single nucleotide variants, insertions, deletions, and methylation patterns with near-complete concordance to current diagnostic methods. In the future, this streamlined approach could simplify testing for neurological disorders, replacing multiple assays with a single, scalable solution.