Ulrika Simone Spangsberg Petersen

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.

This study shows that modulating pseudoexon splicing in the PCCA gene with antisense oligonucleotides restores enzyme activity in propionic acidemia by rescuing PCCA and PCCB protein levels.

DeepCLIP predicts the functional effects of nucleotide variants on protein-RNA binding using sequence data and outperforms existing methods in classification and experimental validation.