Google DeepMind AI tool assesses DNA mutations for harm potential

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Google DeepMind AI tool assesses DNA mutations for harm potential
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AlphaMissense’s predictions could help speed up research and diagnosis of rare disorders

DeepMind have built an artificial intelligence program that can predict whether millions of genetic mutations are either harmless or likely to cause disease, in an effort to speed up research and the diagnosis of rare disorders.

Based on the findings, the scientists have released a free online catalogue of the predictions to help geneticists and clinicians who are either studying how mutations drive diseases or diagnosing patients who have rare disorders. AlphaMissense was fed data on DNA from humans and closely related primates to learn which missense mutations are common, and therefore probably benign, and which are rare and potentially harmful. At the same time, the program familiarised itself with the “language” of proteins by studying millions of protein sequences and learning what a “healthy” protein looks like.

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