Massively parallel assay of human splice variants reveals cis-regulatory drivers of disease-associated and cell type-specific splicing regulation
Samantha E. Koplik, Angela M Yu, Madelyn R. Shelby, Gabriel C. Fonseca, Charles M. Roco, Yue Zhang, Nicholas Bogard, Alex K. Sabo, Alexander B. Rosenberg, Johannes Linder, Georg Seelig
The paper develops COMPASS, a method to assess splicing variant effects across cell types, identifying disease-associated variants and cell type-specific splicing programs.
bioRxiv · Oct 12, 2025 · PreprintSynthetic Biology