Article

OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons

2026-05-23

Abstract excerpt

Alternative splicing of mRNA precursors is an important step in gene regulation and a major mechanism by which genetic variants cause human disease. However, changes in splicing have only been quantified for a tiny fraction of possible variants in the human genome, limiting our ability to interpret clinical variants, evaluate and develop machine learning models, and understand the splicing regulatory code. Here, t...

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Literature Corpus work: 7db49641-abc1-54a0-9b63-94765ed574aa
DOI: 10.64898/2026.05.22.727141

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