Article
Technical Validation of a Next-Generation Sequencing Assay for Detecting Clinically Relevant Levels of Breast Cancer-Related Single-Nucleotide Variants and Copy Number Variants Using Simulated Cell-Free DNA.
The Journal of molecular diagnostics : JMD - 1 Jul 2017
Yang Xin, Chu Yuxing, Zhang Rui, Han Yanxi, Zhang Lucheng, Fu Yu, Li Dan, Peng Rongxue, Li Dongdong, Ding Jiansheng, Li Ziyang, Zhao Meiru, Zhang Kuo, Lu Tian, Yi Lang, Wu Qisheng, Lin Guigao, Xie Jiehong, Liu Tao, Yang Ling, Yi Xin, Li Jinming
Abstract excerpt
Next-generation sequencing (NGS) is commonly used in a clinical setting for diagnostic and prognostic testing of genetic mutations to select optimal targeted therapies. Herein, we describe the development of a custom NGS assay for detecting single-nucleotide variants (SNVs) and copy number variations (CNVs) in a panel of 51 genes related to breast cancer. We designed and implemented a validation strategy in...
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