Article

A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot

2026-07-26

Abstract excerpt

We benchmark four published splicing variant-effect predictors against a multiplexed experimental splicing assay. On 27,733 single-nucleotide variants in and around human exons from MFASS with measured exon-inclusion outcomes, Pangolin is the strongest predictor of splice-disrupting variants (AUROC 0.888, average precision 0.421), ahead of SpliceAI (0.819, 0.321) and SpliceTransformer (0.786, 0.317), with MMSplice...

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Literature Corpus work: ff99de63-800f-51b9-8914-09ae1d7941b2
DOI: 10.64898/2026.07.21.739871

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