Article

Predicted mechanistic impacts of human protein missense variants

2024-05-29

Abstract excerpt

Genome sequencing efforts have led to the discovery of tens of millions of protein missense variants found in the human population with the majority of these having no annotated role and some likely contributing to trait variation and disease. Sequence-based artificial intelligence approaches have become highly accurate at predicting variants that are detrimental to the function of proteins but they do not inform...

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Literature Corpus work: 567e81be-5c4e-5fdf-a0f7-bfa0979e30bb
DOI: 10.1101/2024.05.29.596373

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