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Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
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在哺乳动物基因组中的结构变异的多重生成和单细胞分析
Sudarshan Pinglay1,2,3, Jean-Benoit Lalanne1, Riza M Daza1,3
1Department of Genome Sciences, University of Washington, Seattle, WA, USA.
bioRxiv : the preprint server for biology
|February 26, 2024
概括
我们开发了Genome-Shuffle-seq来生成和映射哺乳动物基因组中的数千个结构变异 (SV). 这种方法使SV的功能研究及其对基因表达和基因组架构的影响成为可能.
科学领域:
- 基因组学和生物信息学
- 分子生物学分子生物学
- 哺乳动物遗传学 哺乳动物遗传学
背景情况:
- 研究哺乳动物基因组中结构变异 (SV) 的功能后果是具有挑战性的,因为它们的频率低,可能影响多个基因,以及不成熟的映射技术.
- 在模型系统中生成和映射 SV 的现有方法是有限的,阻碍了全面的分析.
结论:
- 基因组调整-seq提供了一个强大的工具,可以系统地探索SVs对基因表达,染色体和3D核架构的功能后果.
- 该方法对ecDNAs的体外建模具有前途,并朝着最小哺乳动物基因组的方向前进.
- 这种方法有助于研究复杂的基因组重组及其对细胞功能的影响.
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