Benchmarking Computational Methods for Estimating the Pathogenicity of Wilson’s Disease Mutations
N. Tang, T. Sandahl, P. Ott, K. P. Kepp
This study benchmarks 16 computational methods for predicting pathogenicity of ATP7B mutations in Wilson's disease, finding wide variation in method quality and highlighting threshold optimization issues.
bioRxiv · Sep 25, 2019 · PreprintBiochemistry