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基因变异的多式扫描与基础和原始编辑

Olivier Belli1, Kyriaki Karava1, Rick Farouni1

  • 1Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.

Nature biotechnology
|November 12, 2024
PubMed
概括

这项研究引入了一种高通量方法,用于在上皮生长因子受体 (EGFR) 基因中创建众多遗传变异. 该方法识别了影响癌症发展和耐药性的关键变异,进步了我们对EGFR的理解.

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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...