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Updated: Jul 19, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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交叉蛋白转移学习大大改善了疾病变体预测.

Milind Jagota1, Chengzhong Ye2, Carlos Albors1

  • 1Computer Science Division, University of California, Berkeley, 94720, CA, USA.

Genome biology
|August 7, 2023
PubMed
概括

这项研究引入了一个计算框架,使用深度突变扫描数据来预测误解变体的病原性. 交叉蛋白质转移模型实现了临床变异解释的最新准确性,改善了疾病风险预测.

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