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·· 5 天前AI 评分60
多机构基准评测：细胞系混合样本检测低等位基因频率嵌合突变
Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures
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Ha 等人用短读长与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做多机构基准评测。研究由五家机构构建细胞系混合样本，以 PacBio HiFi 数据交叉验证 Illumina 平台的变异检测结果，据此构建分层参考集、界定现实检出下限，并为非癌组织中低 VAF（<2%）变异的全基因组分析给出最佳实践。
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来源：Cell Genomics · cell.com