Evolutionary Action of de novo missense variants across pathways prioritizes genes linked to autism and predicts patient phenotypic severity
Amanda M. Koire, Christie M. Buchovecky, Panagiotis Katsonis, Young Won Kim, Stephen J. Wilson, Olivier Lichtarge
The paper assesses de novo missense variants in autism spectrum disorder using Evolutionary Action to identify pathway biases and links variant impact to phenotypic severity.
bioRxiv · Jun 30, 2017 · PreprintGenomics