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Updated: May 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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利用蛋白质结构信息来改善变异效应预测.

Lukas Gerasimavicius1, Sarah A Teichmann2, Joseph A Marsh1

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

Current opinion in structural biology
|February 23, 2025
PubMed
概括

计算变异效应预测器 (VEP) 在识别病原性遗传变异方面得到了改进. 整合结构数据,特别是来自蛋白质结构预测的结构数据,提高了对人类误解变异的VEP准确性.

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