Chambon Pascal, Quibeuf Mathilde, Guerrot Anne Marie
Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, INSERM U1245 and CHU Rouen, Rouen, France.
Methods Mol Biol. 2025;2968:173-190. doi: 10.1007/978-1-0716-4750-9_10.
Optical genome mapping (OGM) is a robust method for identifying and characterizing chromothripsis. While conventional short-read sequencing techniques encounter challenges in detecting chromothripsis due to limitations in read length and difficulties in analyzing repetitive sequences, OGM leverages the visualization of long DNA molecules to overcome these obstacles. OGM involves a multi-step process, starting with the extraction of ultra-high molecular weight DNA, followed by fluorescent labeling and imaging of the stretched molecules in nanochannels. A specific computational pipeline analyzes the resulting data to detect and categorize structural variations and copy number variations, offering a comprehensive, high-resolution view of genetic alterations across the genome. Despite certain limitations, such as the requirement for specialized DNA extraction and the inability to detect specific types of variations, OGM stands out as a powerful tool for chromothripsis detection and characterization, complementing existing methods and providing valuable insights into genome structure and variations.
光学基因组图谱（OGM）是一种用于识别和表征染色体碎裂的强大方法。传统的短读长测序技术由于读长限制和分析重复序列的困难，在检测染色体碎裂时面临挑战，而OGM利用长DNA分子的可视化来克服这些障碍。OGM涉及一个多步骤过程，首先提取超高分子量DNA，然后对纳米通道中拉伸的分子进行荧光标记和成像。特定的计算流程分析所得数据，以检测和分类结构变异和拷贝数变异，提供全基因组遗传改变的全面、高分辨率视图。尽管存在某些局限性，如需要专门的DNA提取以及无法检测特定类型的变异，但OGM作为染色体碎裂检测和表征的强大工具脱颖而出，补充了现有方法，并为基因组结构和变异提供了有价值的见解。
