Poison exon splicing in the human brain: a new paradigm for understanding and targeting neurological disorders
Paolo Pigini, Huilin Xu, Yan Ji, Hannah Lindmeier, Henry R. Saltzman, Henry Shull, Shuqi Yun, Christiano R. R. Alves, Melissa Anne Walker, M. Catarina Silva, Dadi Gao, Elisabetta Morini
The paper identifies 9,814 poison exons in the human genome, finds brain-specific splicing patterns, and links pathogenic variants to PE splicing affecting neurological disorders.
bioRxiv · Jun 26, 2025 · PreprintGenetics