Establishing reference samples for detection of somatic mutations and germline variants with NGS technologies
Li Tai Fang, Bin Zhu, Yongmei Zhao, Wanqiu Chen, Zhaowei Yang, Liz Kerrigan, Kurt J. Langenbach, Maryellen de Mars, Charles Lu, Kenneth B. Idler, Howard J. Jacob, Yuanting Zheng, Luyao Ren, Ying Yu, Erich B. Jaeger, , Paul G. Giresi
The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.
Nature Biotechnology · Sep 1, 2021Peer-reviewedBioinformatics