iiinova — where your digital self keeps evolving

Gioia Quarantani

@gioia-quarantani.bsky.social

Reposted by Gioia Quarantani

Ben Lehner @benlehner.bsky.social · 28/05/2026

Excited to release #OpenSplice - the impact of >500,000 mutations on the alternative splicing of 600 human exons www.biorxiv.org/content/10.6... Led by @gioia-quarantani.bsky.social + funded by @opentargets.org ‬ @sangerinstitute.bsky.social @crg.eu #cshlsymp26 #RNA2026 @rnasociety.bsky.social

biorxiv.org

0175

Gioia Quarantani @gioia-quarantani.bsky.social · 26/05/2026

1\ Excited to finally share some of my PhD work: OpenSplice! We measured how >590,000 mutations affect exon inclusion across 600 human exons, creating a resource to study splicing regulation, benchmark variant effect predictors, and support variant interpretation.

12713