ArticleBMC biology2023
Expression and splicing mediate distinct biological signals.
Article in BMC biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- IsoformSwitchAnalyzeR v2: analysis of functional isoform changes in long-read and single-cell sequencing data.NAR genomics and bioinformatics · 2026Article
- scASprofiler: profiling single-cell RNA splicing with a deep convolutional generative network.Briefings in bioinformatics · 2026Article
- Genome-wide investigation of differentially expressed alternative splicing and RNA-binding protein genes association with AML drug resistance.Discover oncology · 2026Article
- Phosphate starvation induces root cell-type-specific transcriptional responses and alternative splicing.The New phytologist · 2026Article
- Exercise modulation of the alternative splicing landscape in human tissues.bioRxiv : the preprint server for biology · 2026Article
- Corticosterone accelerates behavioral inflexibility via plasticity-related gene expression in the dorsal striatum.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Transcriptomic insights into the healthspan-enhancing effects of C. chinensis seed and E. ulmoides bark extracts in Caenorhabditis elegans.Biogerontology · 2025Article
- Systematic Analysis of Alternative Splicing in Transcriptomes of Multiple Sclerosis Patient Brain Samples.International journal of molecular sciences · 2025Article
- Sex-dependent epigenetic disruption of YY1 binding by prenatal BPA exposure downregulates Matr3 and alters Agap1 splicing in the offspring hippocampus.Biology of sex differences · 2025Article
- Alternative splicing across the C. elegans nervous system.Nature communications · 2025Article
- ELLIPSIS: robust quantification of splicing in scRNA-seq.Bioinformatics (Oxford, England) · 2025Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThrough 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.
resultsTo 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.
conclusionsThese findings establish alternative splicing as a major regulator of the human condition and suggest that most contemporary RNA-seq studies likely miss out on critical biological insights. We anticipate our results will contribute to the transition from a gene-centric to an isoform-centric research paradigm.
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