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Updated: Jul 12, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在监管级联中罕见变化的功能影响

Taibo Li1, Nicole Ferraro2, Benjamin J Strober1,3

  • 1Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Cell genomics
|October 23, 2023
PubMed
概括

识别具有影响力的罕见遗传变异是具有挑战性的. 结合多omics数据 (基因组,转录组,甲基组,蛋白质组) 显著提高了这些变体的检测和它们对复杂特征的影响.

关键词:
功能性基因组学 功能性基因组学机器学习是机器学习.甲基组组是什么?多种主题的多种主题.蛋白质组是蛋白质组的组成部分.罕见的变种 罕见的变种转录组 (transcriptome) 是一个转录组.

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