Long-read sequencing improves diagnostic rate in neuromuscular disorders.
Rafaela Owusu, Marco Savarese
Abstract
, facilitating the diagnosis of Facioscapulohumeral muscular dystrophy (FSHD). We review recent studies that have used either ONT or PacBio SMRT sequencing methods and discuss different types of variants that have been detected using these approaches in individuals with neuromuscular disorders.
Topics & Concepts
Exome sequencingFacioscapulohumeral muscular dystrophyComputational biologyDNA sequencingGeneticsBiologyNanopore sequencingMyopathyWhole genome sequencingExomeGenomeBioinformaticsGeneMutationMuscle Physiology and DisordersNeurogenetic and Muscular Disorders ResearchCardiomyopathy and Myosin Studies