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Updated: May 10, 2025

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变异效应预测因子与功能性试验的相关性反映了临床分类性能

Benjamin J Livesey1, Joseph A Marsh2

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

Genome biology
|April 23, 2025
PubMed
概括

变异效应预测器 (VEP) 准确地使用深度突变扫描 (DMS) 数据对误解变异进行分类. 这种方法与临床变异分类相一致,有助于基因诊断.

关键词:
在ACMG/AMP中使用.一个基准的基准.循环性是一种循环性.在 DMS 中使用 DMS.这就是MAVE的原因.变异效应的多重测定.这是VEPEP.变量效应预测器变量效应预测器

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