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AI and lab tests combine to predict disease risk from rare genetic variants

When genetic testing reveals a rare DNA mutation, doctors and patients are frequently left in the dark about what it actually means. Now, researchers at the Icahn School of Medicine at Mount Sinai have developed a powerful new way to determine whether a patient with a mutation is likely to actually develop disease, a concept known in genetics as penetrance.

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AI reveals how protein modifications link mutations to disease

Researchers at Baylor College of Medicine have developed an artificial intelligence (AI) model that reveals how protein modifications link genetic mutations to disease. The method, called DeepMVP and published in Nature Methods, significantly outperforms previously published models and has implications for the development of novel therapeutics.

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