Systematic identification of disease-associated 3D neighborhoods in protein structures
Emily Nason, Sherif Gerges, F. Kyle Satterstrom, Bram L. Gorissen, Ruqi Liao, Georgia Panagiotaropoulou, Jérémy Guez, Konrad J. Karczewski, Mark J. Daly, Hilary K. Finucane
The paper develops a framework to map rare variants onto protein structures and identifies disease-associated 3D neighborhoods in 872 genes for Mendelian disease and others for autism, epilepsy, and schizophrenia.
medRxiv · Jun 2, 2026 · PreprintGenetic & Genomic Medicine