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Updated: Jan 26, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
Splicing, genome stability and disease: splice like your genome depends on it!
Annie S Tam1,2, Peter C Stirling3,4
1Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, Canada.
Abstract:
The spliceosome has been implicated in genome maintenance for decades. Recently, a surge in discoveries in cancer has suggested that the oncogenic mechanism of spliceosomal defects may involve defective genome stability. The action of the core spliceosome prevents R-loop accumulation, and regulates the expression of genome stability factors. At the same time, specific spliceosomal components have non-canonical functions in genome maintenance. Here we review these different models, highlighting their discovery in different model systems, and describing their potential impact on human disease states.
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