,使

David Stein1,2,3, Meltem Ece Kars4, Baptiste Milisavljevic5

  • 1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Nature communications
|November 28, 2025
PubMed
概括

变异对表型 (V2P) 预测了变异的致病性和疾病表型,改善了遗传变异的解释. 这种机器学习模型增强了对基因型-表型关系的理解,以更好地诊断疾病.

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