De novo structural variants in autism spectrum disorder disrupt distal regulatory interactions of neuronal genes
Ketrin Gjoni, Xingjie Ren, Amanda Everitt, Yin Shen, Katherine S. Pollard
The paper develops a computational method to predict structural variant impacts on genome folding and identifies ASD-associated variants disrupting neuronal regulatory interactions.
Genome Research · Sep 1, 2026Peer-reviewedBioinformatics