Influence of sequencing depth on the fidelity and sensitivity of 1%-5% low-frequency mutation detection and recommendation for standardization of sequencing depth
Zhe Liu, Weijin Qiu, Shujin Fu, Xia Zhao, Jun Xia, Chunyu Geng, Youqian Yu, Ziling Li, Mingzhu Li, Hui Jiang, Fang Chen
This paper investigates how sequencing depth affects low-frequency mutation detection, showing that increasing depth improves fidelity and sensitivity while reducing false positives.
bioRxiv · Dec 26, 2021 · PreprintGenomics