The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a slowly progressive, multisystemic disorder caused by a CTG repeat expansion in the DMPK 3’UTR that leads to global dysregulation of alternative splicing. Here, we employed a composite RNA splicing biomarker called the Myotonic Dystrophy Splice Index (SI), which incorporates 22 disease-specific splice events that sensitively and robustly assesses transcriptomic dysregulation ac...

Topics

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• Collagen Type VI
• Genetic factors in colorectal cancer
• Genetic Neurodegenerative Diseases
• Genomics and Rare Diseases
• High-Throughput Nucleotide Sequencing
• Muscular Diseases
• Mutation
• Transcriptome

Identifiers and source

Literature Corpus work

fa3f8cc3-5bdb-5791-9090-4757185f51f3

DOI

10.1101/2024.07.10.602610