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


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