Curated Multiple Sequence Alignment for the Adenomatous Polyposis Coli (APC) Gene and Accuracy of In Silico Pathogenicity Predictions
Alexander D. Karabachev, Dylan J. Martini, David Jacob Hermel, Dana Solcz, Marcy E. Richardson, Tina F. Pesaran, Indra Neil Sarkar, Marc S. Greenblatt
The paper evaluates how PMSA-based computational tools predict pathogenicity of APC missense variants, finding wide variation in predictions and highlighting challenges in alignment-based methods.
PLoS ONE · Aug 4, 2020Peer-reviewedGenetics