Accurate variant effect prediction using AlphaMissense
Paper • Sep 19, 2023 • Science • Jun Cheng, Guido Novati, Joshua Pan, Clare Bycroft, Akvilė Žemgulytė, Taylor Applebaum, Alexander Pritzel, L.H. Wong, Michal Zielinski, Tobias Sargeant, Richard G. Schneider, Andrew W. Senior, John Jumper, Demis Hassabis, Pushmeet Kohli, Žiga Avsec
Missense variants in the human genome can cause devastating genetic diseases, yet the vast majority of these variants remain clinically classified as 'variants of uncertain significance' (VUS). Bui...