Cell Genomics· Qichen Fu, Zilan Xin, Benpeng Miao, Wenjin Zhang, Nahyun Kong, Zitian Tang, Andrew Ruttenberg, Derek C. Albracht, Edward A. Belter, John E. Garza, Chad Tomlinson, Elvisa Mehinovic, Jiawei Shen, Xiaoyu Zhuo, Shihua Dong, Benjamin K. Johnson, Mary F. Majewski, Theron Palmer, H. Josh Jang, Yuchen Cheng, Zefan Li, Heather A. Lawson, Tina Lindsay, Daofeng Li, Robert Fulton, Hui Shen, Sheng Chih Jin, SMaHT Network Assembly/Pangenome Working Group, Juan F. Macias-Velasco, Ting Wang·· 19 小时前AI 评分42
利用人类泛基因组改进体细胞变异检测
Leveraging human pangenome for improved somatic variant detection
AI 导读
Fu等发现，人类泛基因组的体细胞变异检测准确性优于GRCh38和CHM13，并可推断供体特异性组装。这些组装可减少生殖系变异混入，揭示GRCh38遗漏的癌症相关功能性体细胞变异，为成本高昂的从头组装提供可扩展的替代方案。
来源：Cell Genomics · cell.com