Article

CrosSplice: A Pipeline for Identifying Rare Splice-Site Creating Variants from Cross-Tissue Transcriptome Data

2025-12-29

Abstract excerpt

<h4>Background: </h4> Despite their profound impact on patients′ lives, most rare and intractable diseases still lack established treatments. Genomic variants that disrupt normal splicing by creating novel splice sites (splice-site creating variants, SSCVs) substantially contribute to the pathogenesis of those conditions. Deep intronic SSCVs are particularly amenable to antisense oligonucleotide (ASO)–mediated spl...

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Literature Corpus work: cebf55e1-22ed-5fdd-a714-7ce8e2d9810a
DOI: 10.64898/2025.12.21.25342246

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