Assessing and Optimizing Low-Frequency Somatic Mutation Detection: A Multi-Platform High-Throughput Sequencing Perspective
Baosheng N/A Feng, Yixin Lin, Lei Liu, Qunting Lin, Yuan Lin, Yongfang Liu, Jiatao Li, Chaoyu Lei, Chang Chen, Manman Yang, Xuejie Peng, Zhiliang Zhou, Qin Yan, Lei Sun, Qigang Li
This study evaluates and improves low-frequency somatic mutation detection across multiple sequencing platforms using a simulated benchmark and a machine learning-based caller.
bioRxiv · Jun 3, 2026 · PreprintBioinformatics