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Data Party THU
Data Party THU
Sep 14, 2025 · Artificial Intelligence

How Machine Learning Predicts Genetic Variant Penetrance Across Populations

Researchers at Mount Sinai Icahn School of Medicine used gradient‑boosting trees on over one million electronic health records to build machine‑learning models for ten hereditary diseases, quantifying the penetrance of genetic variants and demonstrating how probabilistic risk scores can improve clinical interpretation and patient management.

Risk Predictionclinical geneticselectronic health records
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How Machine Learning Predicts Genetic Variant Penetrance Across Populations