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Updated: May 27, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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基于序列结构的预测,对与原发性免疫缺陷相关的蛋白质中氨基酸替代的病原性

Ekaterina S Porfireva1, Anton D Zadorozhny1, Anastasia V Rudik2

  • 1Department of Bioinformatics, Pirogov Russian National Research Medical University, Moscow, Russia.

Frontiers in immunology
|February 20, 2025
PubMed
概括

这项研究开发了序列结构属性关系 (SSPR) 模型,以预测初级免疫缺陷 (PID) 中氨基酸替代的致病性. 这些模型实现了高精度,性能优于现有工具,并通过SAV-Pred网络应用程序提供.

关键词:
这是一个多通道的多通道.这就是SAV-Pred.氨基酸替代物的氨基酸替代物人类遗传变异人类遗传变异病原性预测 病原性预测一次性免疫缺陷是什么?序列-结构-属性关系

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