RNAseq analysis for the diagnosis of muscular dystrophy
View/ Open
Author
Gonorazky, Hernan
Liang, Minggao
Micallef, Johann
Hawkins, Cynthia
Basran, Raveen
Cohn, Ronald
Wilson, Michael D.
Marshall, Christian R.
Ray, Peter N.
Dowling, James J.
Note: Order does not necessarily reflect citation order of authors.
Published Version
https://doi.org/10.1002/acn3.267Metadata
Show full item recordCitation
Gonorazky, H., M. Liang, B. Cummings, M. Lek, J. Micallef, C. Hawkins, R. Basran, et al. 2015. “RNAseq analysis for the diagnosis of muscular dystrophy.” Annals of Clinical and Translational Neurology 3 (1): 55-60. doi:10.1002/acn3.267. http://dx.doi.org/10.1002/acn3.267.Abstract
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.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704476/pdf/Terms of Use
This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAACitable link to this page
http://nrs.harvard.edu/urn-3:HUL.InstRepos:24983982
Collections
- FAS Scholarly Articles [18292]
- HMS Scholarly Articles [17922]
Contact administrator regarding this item (to report mistakes or request changes)