Cell Genomics· Yoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, Stephanie J. Georges, Nancy L. Parmalee, Michele Berselli, Tim H.H. Coorens, Shihua Dong, Stephanie Gardiner, Divya Kalra, Daofeng Li, Benpeng Miao, Rajeeva Musunuri, Liying Xue, Zhi Yu, Kimberly Walker, Lisa Anderson, Natalie Y.T. Au, Carrie Cibulskis, Harsha Doddapaneni, Christopher M. Grochowski, Dana M. Jensen, Tina Lindsay, Kelsey Loy, Azeet Narayan, Giuseppe Narzisi, Jeffrey Ou, Meranda M. Pham, Alexi M. Runnels, Andrew B. Stergachis, Lila M. Sutherlin, Ting Wang, Hu Jin, William C. Feng, Yuwei Zhang, Alexander D. Veit, Clara TaeHee Kim, Hye-Jung E. Chun, SMaHT Network Single Nucleotide Variant (SNV) Working Group, Kristin Ardlie, Robert S. Fulton, Soren Germer, Richard A. Gibbs, Gabor T. Marth, James T. Bennett, Peter J. Park·· 2 天前AI 评分52
低等位基因频率嵌合突变检测：基于细胞系混合样本的多机构基准评测
Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures
AI 导读
Ha 等利用短读长和长读长全基因组测序，对低变异等位基因频率（VAF）嵌合突变的检测策略开展基准评测。研究使用五家机构生成的细胞系混合样本，以 PacBio HiFi 数据交叉验证基于 Illumina 的变异检出结果，构建分层参考集、界定实际检测限，并确立非癌组织低 VAF（<2%）变异全基因组分析的最佳实践。
来源：Cell Genomics · cell.com