Google's AI analyses genetic mutations to predict if they could lead to diseases

In a significant breakthrough in the field of human genetics, scientists have used Google's DeepMind to develop a program that can predict what genetic mutation could cause diseases and what could remain harmless. AI tools that can accurately predict the effect of variants have the power to accelerate research across fields. However, some are pathogenic and can severely disrupt protein function, leading to rare genetic diseases or complex diseases like type 2 diabetes. The AlphaMissense catalogue was developed by fine-tuning the AlphaFold model on labels distinguishing variants seen in human and closely related primate populations.