New AI Tool Classifies the Effects of 71 Million Missense Mutations

Uncovering the root causes of disease is one of the greatest challenges in human genetics. With millions of possible mutations and limited experimental data, identifying disease-causing mutations remains a mystery. This knowledge is crucial for faster diagnosis and treatment development.

Accelerating Research into Genetic Diseases

A key step in translating this research is collaborating with the scientific community. We have been working with Genomics England to explore how these predictions could help study the genetics of rare diseases. Genomics England confirmed the accuracy and consistency of AlphaMissense’s predictions, providing a real-world benchmark.