Myoclonus-dystonia syndrome is a childhood-onset movement disorder related to mutations in the SGCE gene. 1 The gene encodes εsarcoglycan, a transmembrane protein with a brain-specific isoform. This genetic defect has autosomal dominant transmission with reduced penetrance because of maternal imprinting. 2 The myoclonus phenotype of SGCE-myoclonusdystonia has been extensively assessed in previous studies, including our own paediatric cohort. [3][4][5] In these studies, myoclonus has been reported to be more severe than dystonia. However, the dystonic phenotype has been evaluated mostly with the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), a scale designed for primary generalized dystonia. Because dystonia in patients with SGCEmyoclonus-dystonia is predominantly task specific and shows a segmental distribution, there could have been a

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Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques.