A New AI Tool Could Transform How We Diagnose Genetic Diseases
Justitie
Researchers at the Mayo Clinic and Goodfire, a San Francisco research startup, say they have used an AI model to predict which genetic mutations cause disease—and, crucially, to explain why—offering a new approach to diagnosing and studying genetic disorders at scale. The research uses techniques from AI interpretability—the new science dedicated to understanding the opaque brains of AI systems—to predict and understand which gene mutations might be “pathogenic.” Early diagnosis and treatment
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