A reference system for BRCA mutation detection based on next-generation sequencing in the Chinese population

This study was performed to establish a reference system for performance evaluation of BRCA genetic testing and variant interpretation, which includes interpretation rules, reference materials (RMs), and a reference database (RD). BRCA1/2 mutations identified in cell lines and clinical cases were selected to establish RMs.

Source: Journal of Molecular Diagnostics - April 22, 2019 Category: Pathology Authors: Shoufang Qu, Qiong Chen, Yuting Yi, Kang Shao, Wenxin Zhang, Yin Wang, Jian Bai, Xuchao Li, Zhiyuan Liu, Xiaowen Wang, Ruilin Jing, Yanfang Guan, Xin Yi, Miaoli Yan, Boyang Cao, Feng Chen, Shida Zhu, Xuexi Yang, Yingsong Wu, Jie Huang Tags: Regular article Source Type: research