Article

Massively parallel assay of human splice variants reveals cis-regulatory drivers of disease-associated and cell type-specific splicing regulation

2025-10-13

Abstract excerpt

Splice-disrupting variants (SDVs) underlie many human diseases, yet systematic functional maps of their effects across cell types remain limited. We developed Cell-type Oriented Massively Parallel reporter Assay of Splicing Signatures (COMPASS) to measure splicing outcomes for 87,546 single and double variants across more than 1,700 genes in five human cell lines of diverse tissue origin. COMPASS targets disease r...

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Literature Corpus work: 8207cf3b-8590-5870-9533-fa8fe5c88412
DOI: 10.1101/2025.10.12.681955

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