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Updated: Apr 12, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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人类遗传变异的高通量选通过聚合主要编辑

Michael Herger1, Christina M Kajba1, Megan Buckley1

  • 1The Genome Function Laboratory, The Francis Crick Institute, London NW1 1AT, UK.

Cell genomics
|March 22, 2025
PubMed
概括

我们开发了一种新的聚合主编辑平台,以有效地选数千个基因变异在它们的原生细胞环境中. 这种方法准确地识别了功能丧失变体,推进了人类遗传疾病研究.

关键词:
这就是MAVE的原因.MLH1 一个问题这就是PE PE PE.在SMARCB1中,功能性基因组学 功能性基因组学基因组编辑技术是基因组编辑技术.变异效应的多重测定方法.精准医学是一门精准医学.主编辑主要编辑.和突变发生的原因是和突变.

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Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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