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

INTRODUCTION: Neuromuscular disorders (NMDs) have a heterogeneous etiology. A genetic diagnosis is key to personalized healthcare and access to targeted treatment for the affected individuals. METHODS: In this study, 861 patients with NMDs were analyzed with genome sequencing and comprehensive varia...

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Detalles Bibliográficos
Autores principales: Ek, Marlene, Nilsson, Daniel, Engvall, Martin, Malmgren, Helena, Thonberg, Håkan, Pettersson, Maria, Anderlid, Britt-Marie, Hammarsjö, Anna, Helgadottir, Hafdis T., Arnardottir, Snjolaug, Naess, Karin, Nennesmo, Inger, Paucar, Martin, Hjartarson, Helgi Thor, Press, Rayomand, Solders, Göran, Sejersen, Thomas, Lindstrand, Anna, Kvarnung, Malin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234573/
https://www.ncbi.nlm.nih.gov/pubmed/37273706
http://dx.doi.org/10.3389/fneur.2023.1170005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234573/
https://www.ncbi.nlm.nih.gov/pubmed/37273706
http://dx.doi.org/10.3389/fneur.2023.1170005

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