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用于深度突变扫描的变异评分工具.

Hasan Çubuk1, Xinyi Jin2,3, Belinda Phipson2,3

  • 1MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.

Molecular systems biology
|August 8, 2025
PubMed
概括

深度突变扫描 (DMS) 分析遗传变异,以了解蛋白质功能和疾病. 本综述比较了12种用于处理DMS数据的计算工具,帮助研究人员选择适当的方法来进行变异效应评分.

关键词:
生物信息学是一种生物信息学.深度突变扫描 (Deep Mutational Scanning) 是一种深度突变扫描技术.功能性基因组学 功能性基因组学变异效应的多重测试.软件 软件 软件 软件 软件

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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