Benchmarked sequencing methods reveal hidden mosaic variation in the human brain
Jiaming Weng, Do Hyeon Cha, Jinhui Chun, Pablo Santamarina‐Ojeda, Yuhe Cheng, Robyn Howarth, Yixuan Xu, Xiangyu Huangfu, Pei-Jhen Wang, Saehoon Jung, Jinhee Ryu, Yunhye Noh, Sangmoon Lee, Xiaoxu Yang, Young Seok Ju, , Joseph G. Gleeson
The paper benchmarks sequencing methods to recover mosaic variants in human brain tissue and introduces RIVER to enhance variant detection across methods.
bioRxiv · Oct 13, 2026 · PreprintGenomics