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News for Healthier Living
Mount Sinai Researchers Use AI and Lab Tests to Predict Genetic Disease Risk
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. The team set out to solve this problem using artificial intelligence (AI) and routine lab tests like cholesterol, blood counts, and kidney function. Details of the findings were reported in the August 28 online issue of Science. Their new method combines machine learning with electronic health records to offer a more accurate, data-driven view of genetic risk.
August 28, 2025
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