Advancing missense variant pathogenicity prediction

Missense variants are DNA nucleotide alterations that result in a protein amino acid change. Of the 71 million possible missense variants in the human genome, only around 0.1% have been clinically classified as pathogenic or benign. In a publication in Science, Cheng and colleagues from Google DeepMind introduce their artificial intelligence (AI) model AlphaMissense, which aims to predict the pathogenicity of the large proportion of unannotated variants.

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Li, R. Advancing missense variant pathogenicity prediction.
Nat Biotechnol 41, 1386 (2023). https://doi.org/10.1038/s41587-023-01999-y

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Published: 12 October 2023

Issue Date: October 2023

DOI: https://doi.org/10.1038/s41587-023-01999-y

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