missense mutation

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Sep 20, 2023 · Artificial Intelligence

DeepMind's AlphaMissense AI Tool Predicts Pathogenicity of 71 Million Missense Mutations

DeepMind's AlphaMissense AI tool, now available on GitHub and reported in Science, evaluates all 71 million possible missense mutations, classifying roughly one‑third as potentially pathogenic, over half as benign, and aims to accelerate rare‑disease research by prioritizing experimental resources.