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Targeted Long-Read Sequencing Enables Comprehensive Analysis of the Genetic and Epigenetic Landscape of Inherited Myopathies

This study investigated the utility of targeted Oxford Nanopore Technologies (ONT) long-read sequencing (LRS) for the diagnosis of inherited myopathies. A targeted ONT LRS assay was applied to a cohort of myopathy participants with and without previous genetic diagnoses. Our results demonstrate that this assay provides comprehensive genetic and epigenetic characterisation of inherited myopathies. At the time of dbGaP submission, disease causing variants had been identified a number of genes (DUX4, GIPC1, DGUOK, NOTCH2NLC, RILPL1, ABCD3, LAMA2 and CAPN3) in a group of previously undiagnosed genetic myopathy participants. The ONT LRS assay also identified known pathogenic variants in a number of genes (CAPN3, CACNA1S, RYR1, MT-TL1, CNBP, DMD, DUX4, SMCHD1) in a group of positive control participants with previously known genetic diagnoses.