Performance characterization of PCR-free whole genome sequencing for clinical diagnosis
Ningzhi Zhang, Meizhen Zhou, Fanwei Zeng, Xiaodan Wang, Fengxia Liu, Zhihong Qiao, Chunna Fan, Yaoshen Wang, Zhonghai Fang, Wentao Dai, Jiale Xiang, Jun Sun, Zhiyu Peng, Lijie Song, Yan Sun
This study evaluates PCR-free whole genome sequencing for clinical diagnosis, showing improved sensitivity and PPV for variant detection compared to PCR-based methods.
bioRxiv · Jun 19, 2020 · PreprintGenetics