3/ Huge thanks to @benlehner.bsky.social and Juan Valcárcel for their guidance, to Joseph Clarke, Michael Thompson and Fei Sang for their contributions, and to @opentargets.org for supporting this work.
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.
2\ Explore the data in our website, where you can browse and visualize variant effects of your favorite exons:
results.hgi.sanger.ac.uk/OpenSplice/
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
Gioia Quarantani
Gioia Quarantani
Gioia Quarantani
Ben Lehner
OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons https://www.biorxiv.org/content/10.64898/2026.05.22.727141v1
