Expression and splicing mediate distinct biological signals.

ABSTRACT:

Background

Through alternative splicing, most human genes produce multiple isoforms in a cell-, tissue-, and disease-specific manner. Numerous studies show that alternative splicing is essential for development, diseases, and their treatments. Despite these important examples, the extent and biological relevance of splicing are currently unknown.

Results

To solve this problem, we developed pairedGSEA and used it to profile transcriptional changes in 100 representative RNA-seq datasets. Our systematic analysis demonstrates that changes in splicing, on average, contribute to 48.1% of the biological signal in expression analyses. Gene-set enrichment analysis furthermore indicates that expression and splicing both convey shared and distinct biological signals.

Conclusions

SUBMITTER: Dam SH 

PROVIDER: S-EPMC10588054 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature