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Article

Comprehensive evaluation of BRCA1/2 variant interpretation ability among laboratories in China.

Journal of medical genetics - 1 Mar 2022

Shao Kang, Wang Ruixia, Qu Shoufang, Zhang Wenxin, Yu Ting, Cao Boyang, Dai Pingping, Zhu Anna, Zhang Jianguang, Wang Juan, Wang Lusheng, Zhu Shida, Wu Kui, Yang Xuexi, Chang Xiaoyan, Chen Fang, Huang Jie

Abstract excerpt

High-quality interpretation of BRCA1/2 variants plays a critical role in the clinical practice of precision medicine. However, a comprehensive system to evaluate the quality and accuracy of variant interpretation has yet to be established. This study investigates the performance of an interpretation system in evaluating the capacities of BRCA1/2 interpretation among distinct laboratories in China. The evaluation...

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PMID: 33397747
DOI: 10.1136/jmedgenet-2020-107360

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