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

2025-12-29 genetic and genomic medicine Title + abstract only
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BackgroundDespite 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 splice modulation, yet many of them remain undetected by conventional genomic analyses. Existing ap...

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