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Updated: Jun 9, 2025

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了解人类蛋白质编码基因中变异效应预测者的异质性表现

Mohamed Fawzy1, Joseph A Marsh2

  • 1MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Scientific reports
|October 31, 2024
PubMed
概括

变异效应预测器 (VEP) 在人类基因中显示出不同的性能. 像蛋白质障碍这样的基因特征影响了VEP的准确性,突出了使用接收器操作特征曲线 (AUROC) 下面的区域来比较性能的局限性.

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