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RNAseq analysis for the diagnosis of muscular dystrophy

The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care. This is despite significant advances in clinical genetic diagnostics, including the application of whole‐exome sequencing and next‐generation...

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Detalles Bibliográficos
Autores principales: Gonorazky, Hernan, Liang, Minggao, Cummings, Beryl, Lek, Monkol, Micallef, Johann, Hawkins, Cynthia, Basran, Raveen, Cohn, Ronald, Wilson, Michael D., MacArthur, Daniel, Marshall, Christian R., Ray, Peter N., Dowling, James J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704476/
https://www.ncbi.nlm.nih.gov/pubmed/26783550
http://dx.doi.org/10.1002/acn3.267
Descripción
Sumario:The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care. This is despite significant advances in clinical genetic diagnostics, including the application of whole‐exome sequencing and next‐generation sequencing‐based gene panels. In this study, we identify a deep intronic mutation in the DMD gene in a patient with muscular dystrophy using both conventional and RNAseq‐based transcriptome analyses. The implications of our data are that noncoding mutations likely comprise an important source of unresolved genetic disease and that RNAseq is a powerful platform for detecting such mutations.