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A team of researchers from Google DeepMind report in Science the development of AlphaMissense, an artificial intelligence-based approach to predict the pathogenicity of missense variants adapted from their previously described protein structure prediction tool AlphaFold. Given that only ~2% of the 4 million missense variants observed in the human genome have been clinically classified, AlphaMissense has enormous potential for informing diagnosis and, possibly, therapy of rare genetic disease.
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