Article

Spliformer-V2 enables multi-tissue prediction and interpretation of splice-altering genetic variants

2025-07-03

Abstract excerpt

Precise regulation of pre-mRNA splicing underlies transcriptomic diversity and is disrupted in aging and disease, yet tissue-specific splice-altering genetic variants remain poorly resolved. Here, we present Spliformer-V2, a SegmentNT-based deep learning model for predicting and interpreting variant effects on RNA splicing across human tissues. We generated a diploid sequence resolved RNA splice map from paired wh...

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Literature Corpus work: 7c31cbf7-a87c-5b14-8b0f-321910263487
DOI: 10.1101/2025.06.28.662167

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