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Updated: Oct 15, 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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用进化数据的深度生成模型进行疾病变异预测

Jonathan Frazer1, Pascal Notin2, Mafalda Dias1

  • 1Marks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA.

Nature
|October 28, 2021
PubMed
概括

一个新的计算模型,EVE (变异效应的进化模型),预测了无疾病标签的蛋白质变异致病性. 这种方法在分类数百万个未知意义的遗传变异方面优于现有的方法和辅助.

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