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AI Tool Eve Accurately Predicts Disease Relevance of Human Genetic Variants

23Strands News
23Strands News October 28, 2021

Researchers at Harvard Medical School and Oxford University have now developed an artificial intelligence (AI) tool called EVE (evolutionary model of variant effect), which uses a sophisticated type of machine learning to detect patterns of genetic variation across hundreds of thousands of nonhuman species and then use them to make predictions about the meaning of variations in human genes.

AI Tool Eve Accurately Predicts Disease Relevance of Human Genetic Variants

In a study published in Nature, the team used EVE to assess 36 million protein sequences and 3,219 disease-associated genes across multiple species. Their results suggested that 256,000 previously identified human gene variants currently of unknown significance should, in fact, be reclassified as either benign or disease causing. While the researchers emphasize that EVE is not a diagnostic test, they say it could augment current clinical tools used by geneticists and other physicians to make diagnoses, predict disease progression, and even choose treatment based on the presence of certain disease-causing genetic mutations.