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Updated: Jun 22, 2025

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光学基因组映射用于重复扩张障碍中的应用.

Bart van der Sanden1, Kornelia Neveling1, Andy Wing Chun Pang2

  • 1Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.

Current protocols
|July 5, 2024
PubMed
概括

光学基因组映射 (OGM) 提供了一种精确的方法来检测长短串联重复 (STR) 扩张,这对于诊断60多种遗传疾病至关重要. 该技术为超过500 bp的重复扩张提供了准确的长度和稳定性分析.

关键词:
通过光学基因组映射进行基因组映射.重复扩张障碍的发生.身体上的不稳定性.结构变量分析结构变量分析整个基因组分析分析

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