The Google DeepMind team has developed AlphaMissense, a protein sequence prediction system based on the AlphaFold methodology, capable of distinguishing between pathogenic and benign missense mutations. AlphaMissense has successfully predicted 71 million possible missense variants, accurately categorizing 89% of them as either potentially pathogenic or benign, significantly outperforming human experts. This breakthrough is believed to aid in identifying pathogenic gene mutations and improving the diagnosis rates of rare genetic diseases. However, experts also point out that AlphaMissense currently cannot account for the impact of protein complexes on disease prediction, a limitation that needs further improvement. Overall, AlphaMissense marks a significant step forward in using AI to predict the effects of protein sequence variations and solve genetic challenges.
Google DeepMind Uses AI to Predict Millions of 'Missense Mutations', Taking an Important Step Towards Solving Human Genetic Challenges

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