Mutational impacts of known diseases could be explained based on the impacts of the hexamers as the example of CFTR gene in cystic fibrosis (7/10)

There is a correlation in the rankings of the hexamers, which appear to reflect phylogenetic relationships arguing for a shared logic across eukaryotes (6/10)

This pattern appears to hold true across eukaryotes and this shared logic of stronger hexamers being able to compete with weaker ones to determine splicing outcomes. The frequency at splice sites is correlated with with their strength rather than genomic prevalence (5/10)

By carrying out 130000 GWAS along with millions of splice-site usage measures, we could infer that hexamer sequences surrounding the splice-sites form a rank order that could mostly explain the choices! By chaning hexamers, we could modify introns for desirable outcomes (4/10)

Here, we used these quantifications to map genetic variation associated with splice-site usage in GWAS (SpliSER-GWAS), which really worked like magic (3/10)

On my way to Brussels from Zurich! Looking forward to meeting colleagues and speaking at ICAR2025.