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Updated: Sep 18, 2025

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使用基于人口的大规模数据来改进对临床变异的疾病风险评估

Iain S Forrest1,2,3, Kuan-Lin Huang3, Julie M Eggington4

  • 1The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Nature genetics
|June 23, 2025
PubMed
概括

估计遗传变异性疾病风险对精准医学至关重要. 这项研究提出了一个改进的贝叶斯框架来统一病原性和透性,通过使用多样化的证据来增强遗传风险预测.

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