ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors describe AlphaMissense, a machine-learning tool that predicts the pathogenicity of 71 million human coding variants. 22.8 million variants (32%) are classified as likely pathogenic and 40.9 million (57%) as likely benign. They provide these databases freely as resources to the international research community.These authors from Google DeepMind previously developed and released AlphaFold, a revolutionary machine-learning approach to ...