All exons are not created equal - Exon vulnerability determines the effect of exonic mutations on splicing.
Lise Lolle Holm, Thomas Koed Doktor, Katharina Kirkegaard Flugt, Ulrika Simone Spangsberg Petersen, Rikke Petersen, Brage Storstein Andresen
The paper introduces VulExMap, a tool to identify vulnerable exons prone to splicing mutations, finding that only 27% of exons are vulnerable despite two-thirds of known disease-related mutations occurring in vulnerable exons.
Nucleic Acids Research · Jan 26, 2024Peer-reviewedMolecular Biology