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Updated: Jul 12, 2025

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疾病相关基因的深度突变扫描与和突变生成强化功能检测 (SMuRF)

Kaiyue Ma1, Shushu Huang1,2, Kenneth K Ng1,2

  • 1Department of Genetics, Yale School of Medicine, New Haven, CT, USA.

bioRxiv : the preprint server for biology
|October 24, 2023
PubMed
概括

一个新的框架,和变异-强化功能测试 (SMuRF),简化了遗传变异分析. SMuRF为疾病基因提供了具有成本效益的功能评分,有助于变异解释和预测.

关键词:
深度突变扫描 进行深度突变扫描.具有成本效益的变体解释.诊断 诊断 诊断 诊断 诊断消极糖病变 消极糖病变 消极糖病变遗传性疾病 遗传性疾病高通量功能测试的高通量功能测试肌肉发育不良症 肌肉发育不良症和突变发生的原因是和突变.变体效应预测变体效应预测不确定意义的变体.

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