MGA-seq：使用多种遗传异常测序对染色体外 DNA 和遗传变异进行稳健鉴定。
MGA-seq: robust identification of extrachromosomal DNA and genetic variants using multiple genetic abnormality sequencing.
发表日期：2023 Oct 30
作者：
Da Lin, Yanyan Zou, Xinyu Li, Jinyue Wang, Qin Xiao, Xiaochen Gao, Fei Lin, Ningyuan Zhang, Ming Jiao, Yu Guo, Zhaowei Teng, Shiyi Li, Yongchang Wei, Fuling Zhou, Rong Yin, Siheng Zhang, Lingyu Xing, Weize Xu, Xiaofeng Wu, Bing Yang, Ke Xiao, Chengchao Wu, Yingfeng Tao, Xiaoqing Yang, Jing Zhang, Sheng Hu, Shuang Dong, Xiaoyu Li, Shengwei Ye, Zhidan Hong, Yihang Pan, Yuqin Yang, Haixiang Sun, Gang Cao
来源：
GENOME BIOLOGY
摘要：
基因组异常与癌症和不孕症密切相关。在这项研究中，我们开发了一种简单而有效的方法——多重遗传异常测序（MGA-Seq）——同时检测单个DNA的结构变异、拷贝数变异、单核苷酸多态性、均匀染色区域和染色体外DNA（ecDNA）。管子。 MGA-Seq 直接对邻近连接的基因组片段进行测序，产生具有并发基因组三维和全基因组测序信息的数据集，从而实现基因组结构变异的近似定位并促进断点识别。此外，通过利用 MGA-Seq，我们绘制了局灶扩增和癌基因共扩增图谱，从而促进了 ecDNA 转录调控功能的探索。© 2023。作者。
Genomic abnormalities are strongly associated with cancer and infertility. In this study, we develop a simple and efficient method - multiple genetic abnormality sequencing (MGA-Seq) - to simultaneously detect structural variation, copy number variation, single-nucleotide polymorphism, homogeneously staining regions, and extrachromosomal DNA (ecDNA) from a single tube. MGA-Seq directly sequences proximity-ligated genomic fragments, yielding a dataset with concurrent genome three-dimensional and whole-genome sequencing information, enabling approximate localization of genomic structural variations and facilitating breakpoint identification. Additionally, by utilizing MGA-Seq, we map focal amplification and oncogene coamplification, thus facilitating the exploration of ecDNA's transcriptional regulatory function.© 2023. The Author(s).