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RNAseq analysis for the diagnosis of muscular dystrophy.
- Source :
-
Annals of Clinical & Translational Neurology . Jan2016, Vol. 3 Issue 1, p55-60. 6p. - Publication Year :
- 2016
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 23289503
- Volume :
- 3
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Annals of Clinical & Translational Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 112083537
- Full Text :
- https://doi.org/10.1002/acn3.267