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New AI tool predicts genetic mutations that could cause disease

AlphaMissense is a game-changer in genetic research for human health

19-Sep-2023

Key points from article :

Google DeepMind's AI tool, AlphaMissense, predicts genetic mutations' disease potential.

AlphaMissense focuses on missense mutations, which can disrupt protein functions.

The AI assessed 71 million single-letter mutations, identifying 57% as likely harmless and 32% as harmful.

Scientists released a free online catalogue of predictions to aid genetic research and diagnosis.

AlphaMissense outperforms existing prediction programs, offering potential for faster disease identification.

The AI, based on DeepMind's AlphaFold, was trained on DNA data and protein sequences to assess mutation risks.

Research published in the journal Science.

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DeepMind

Company developing AI systems for solving problems.

Science

Peer-reviewed academic online journal of the American Association for the Advancement of Science (AAAS)

Topics mentioned on this page:
DNA, AI in Healthcare
New AI tool predicts genetic mutations that could cause disease