RNAseq analysis for the diagnosis of muscular dystrophy

Annals of Clinical and Translational Neurology
Hernan GonorazkyJames J Dowling

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.

References

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Citations

Feb 23, 2018·European Journal of Human Genetics : EJHG·David CooteKristen J Nowak
Jul 1, 2018·Journal of Medical Genetics·Sarah Jane BeecroftGianina Ravenscroft
Nov 14, 2018·The Journal of Clinical Investigation·Bertrand BoissonTakahiro Yasumi
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Jul 29, 2016·Molecular Genetics & Genomic Medicine·Nara L Sobreira, David Valle
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Sep 21, 2020·Annals of Clinical and Translational Neurology·Zhiying XieYun Yuan
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Nov 2, 2020·Progress in Retinal and Eye Research·Nathaniel K MullinBudd A Tucker
Jul 25, 2021·Nature Communications·Masahiko AjiroMasatoshi Hagiwara
Aug 28, 2021·International Journal of Molecular Sciences·Aoife GowranRosaria Santoro
Sep 10, 2020·Cell Chemical Biology·Saiko ShibataMasatoshi Hagiwara

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Methods Mentioned

BETA
biopsy
RNAseq

Software Mentioned

DES
STAR
RNAseq
RNA
Cufflinks
Gencode
UCSC genome browser

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