Daniel R Tabet1,2,3,4, Da Kuang1,2,3,4, Megan C Lancaster5

  • 1Donnelly Centre, University of Toronto, Toronto, ON, Canada.

Genome biology
|July 2, 2024
PubMed
概括

AlphaMissense最好地从罕见的误解变体预测人类特征,超过其他23个计算变体效应预测器. 这项研究为评估这些工具用于临床遗传学应用提供了一个公正的方法.

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