Muscular Dystrophy Bulk RNA-Seq Analysis

Manuscript: Multi-omics analysis identifies a novel VMA21 gene variant that dysregulates RNA splicing causing rare X-linked myopathy with excessive autophagy

X-linked myopathy with excessive autophagy (XMEA) is caused by loss-of-function (LoF) pathogenic variants in the VMA21 gene on the X-chromosome. XMEA patients develop a progressive muscle weakness caused by an impaired autophagy process resulting in the accumulation of vacuoles within skeletal muscle, liver and neurons.

Requirements

• R version 4.2.3 (2023-03-15)
• Rstudio version 2023.03.0+386
• ggsashimi
• DESeq2 R package
• ggplot2 R package
• EnhancedVolcano R package

Analysis code in the respective folders

The scripts written as the part of this study are listed below in their respective folders. Please refer to them for the files (gene annotation, etc.) necessary to run them successfully.

• Splicing visualization via sashimi plot
  • ggsashimi_analysis
• Differential gene expression analysis
  • dge_analysis

Manuscript preprint link

• medRxiv: