Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

IntroductionNeuromuscular disorders (NMDs) have a heterogeneous etiology. A genetic diagnosis is key to personalized healthcare and access to targeted treatment for the affected individuals.MethodsIn this study, 861 patients with NMDs were analyzed with genome sequencing and comprehensive variant ca...

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Main Authors: Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Maria Pettersson, Britt-Marie Anderlid, Anna Hammarsjö, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Inger Nennesmo, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Thomas Sejersen, Anna Lindstrand, Malin Kvarnung
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Neurology
Subjects:
neuromuscular disorders
genome sequencing
single nucleotide variant
structural variant
repeat expansion
ataxia
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1170005/full

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