OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons
Gioia Quarantani et al.
www.biorxiv.org/content/10.6...
Gioia Quarantani et al.
www.biorxiv.org/content/10.6...
www.biorxiv.org
May 25, 2026 at 2:21 PM
OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons
Gioia Quarantani et al.
www.biorxiv.org/content/10.6...
Gioia Quarantani et al.
www.biorxiv.org/content/10.6...
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/
results.hgi.sanger.ac.uk/OpenSplice/
OpenSplice
results.hgi.sanger.ac.uk
May 26, 2026 at 3:09 PM
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/
results.hgi.sanger.ac.uk/OpenSplice/
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.
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.
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
May 26, 2026 at 3:08 PM
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.
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.
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
May 25, 2026 at 12:43 PM
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
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
May 24, 2026 at 6:33 AM
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
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
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
www.biorxiv.org
May 28, 2026 at 12:55 PM
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
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
OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons #RareDisease #Genetics www.biorxiv.org/content/10.6...
May 29, 2026 at 7:09 PM
OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons #RareDisease #Genetics www.biorxiv.org/content/10.6...
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
May 24, 2026 at 6:33 AM
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
OpenSplice is a powerful resource to help interpret disease-causing variants in the clinic.
Expanding OpenSplice to cover the entire human transcriptome would also allow the development of highly accurate predictive models
Congratulations to the whole team!
www.biorxiv.org/content/10.6...
Expanding OpenSplice to cover the entire human transcriptome would also allow the development of highly accurate predictive models
Congratulations to the whole team!
www.biorxiv.org/content/10.6...
www.biorxiv.org
May 27, 2026 at 10:25 AM
OpenSplice is a powerful resource to help interpret disease-causing variants in the clinic.
Expanding OpenSplice to cover the entire human transcriptome would also allow the development of highly accurate predictive models
Congratulations to the whole team!
www.biorxiv.org/content/10.6...
Expanding OpenSplice to cover the entire human transcriptome would also allow the development of highly accurate predictive models
Congratulations to the whole team!
www.biorxiv.org/content/10.6...
Introducing OpenSplice, an atlas of splice-altering variants and the largest systematic analysis of splicing regulatory variants
OpenSplice quantifies the impact of 590,000+ variants on the splicing of 608 alternatively spliced exons, and is out now on bioRxiv 🧬🖥️
www.biorxiv.org/content/10.6...
OpenSplice quantifies the impact of 590,000+ variants on the splicing of 608 alternatively spliced exons, and is out now on bioRxiv 🧬🖥️
www.biorxiv.org/content/10.6...
May 27, 2026 at 10:25 AM
Introducing OpenSplice, an atlas of splice-altering variants and the largest systematic analysis of splicing regulatory variants
OpenSplice quantifies the impact of 590,000+ variants on the splicing of 608 alternatively spliced exons, and is out now on bioRxiv 🧬🖥️
www.biorxiv.org/content/10.6...
OpenSplice quantifies the impact of 590,000+ variants on the splicing of 608 alternatively spliced exons, and is out now on bioRxiv 🧬🖥️
www.biorxiv.org/content/10.6...