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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.

Authors: Eddy N. de Boer, Arjen J. Scheper, Dennis Hendriksen, Bart Charbon, Gerben van der Vries, Annelies M. ten Berge, Petra M. Grootscholten, Henny H. Lemmink, Jan D. H. Jongbloed, Laura Bosscher, Nine V. A. M. Knoers, Morris A. Swertz, Birgit Sikkema-Raddatz, Dorieke J. Dijkstra, Lennart F. Johansson, Cleo C. van Diemen

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