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◇ bioRxiv2026-08-25· bioinformatics

eSkip2 prioritizes exon-skipping antisense oligonucleotide target regions across exon--intron contexts

S. Chiba, K. Kunitake, S. Shirakaki, U. S. Haque, H. Wilton-Clark, M. N. A. Shah, J. N. Leckie, K. Matsui, F. Uno-Ono, T. Yokota, Y. Aoki, Y. Okuno

原始摘要(英文原文)· Original abstract
Exon-skipping antisense oligonucleotides (ASOs) can restore productive transcripts, but identifying effective binding regions remains difficult because splicing regulation extends across exons, introns and splice junctions. Here we develop eSkip2, a genome-informed framework that ranks target regions within a unified exon-intron sequence context. eSkip2 combines a genome-pretrained sequence model with ASO-induced exon-skipping data and single-nucleotide-variant splicing perturbations, followed by target-locus adaptation that requires no experimental ASO labels from the locus being designed. Across benchmarks comprising canonical exons and pseudoexons, multiple cell types and chemistries, and exonic, intronic and exon-intron-spanning targets, eSkip2 prioritized active regions and showed a higher median AUROC than applicable exon-restricted models. Prospective application to the combinatorial design of dual-targeting ASOs for DMD exon 46 enriched active candidates near the top of the ranking: the two most active new ASOs ranked within the top three and produced dose-dependent dystrophin restoration in patient-derived cells. These results support eSkip2 as a practical first-pass strategy for reducing experimental search space in exon-skipping ASO discovery.
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eSkip2 prioritizes exon-skipping antisense oligonucleotide target regions across exon--intron contexts — 科研速览 Science Skim