Splicing transcriptome-wide association study

Genetically predicted splicing across the human phenome

Interactive results from our sTWAS of 13,851 splicing events across 1,129 PheCodes in UK Biobank and All of Us, with joint Bayesian fine-mapping of splicing and expression signals. Explore the 4,966 associations significant in the meta-analysis.

Read the preprint
4,966
Splice–disease associations
FDR < 5% in meta-analysis
1,277
Fine-mapped (PIP > 50%)
joint splicing + expression model
2,107
Splicing events
in 1,012 genes; 13,851 tested
513
PheCodes
with an association; 1,129 tested
sTWAS graphical abstract
Browse associations

Filter by PheCode category or fine-mapping confidence, search by gene, and click any row to explore it.

Inspect the locus

Junction schematic, joint fine-mapping of the LD block, colocalisation, tissue detection and literature.

Reuse the data

Summary statistics, trained splicing genetic scores and fine-mapping results are on Zenodo.

Associations
Joint fine-mapping LD block genes and significant splices; selected in orange
Splicing event
PheCode
Tissue detection Share of curated recount3 samples with this junction
Extended annotations

Colocalisation and literature

Data downloads

All datasets are archived on Zenodo under open licences.
sTWAS summary statistics

Full meta-analysis results for every splicing event × PheCode tested in UK Biobank and All of Us.

Zenodo record 17593872
Trained splicing genetic scores

Bayesian ridge regression weights for the splicing genetic scores trained in INTERVAL, ready for prediction in new cohorts.

Zenodo record 17593872
Bayesian fine-mapping results

Complete B-LORE posterior inclusion probabilities for all LD block × PheCode models.

Zenodo record 17594375
Citation

If you use these results, please cite the preprint: medRxiv 10.1101/2025.09.19.25336165

Analysis code: github.com/atokolyi/sTWAS_paper_scripts