Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures
R. Michael Sivley, Jonathan Kropski, Jonathan Sheehan, Joy Cogan, Xiaoyi Dou, Timothy S. Blackwell, John Phillips, Jens Meiler, William S. Bush, John A. Capra
The paper analyzes the spatial distribution of missense variants in human protein structures to classify variants of unknown significance, finding disease-causing variants cluster more than benign ones.
The American Journal of Human Genetics · Feb 15, 2018Peer-reviewedGenetics