Bao Yun, Fan Yanjie, Su Meng, Wu Bingbing, Hu Xiaobo, Wang Jian, Yu Yongguo, Huang Taosheng
Shanghai Clinical Laboratory Center, Shanghai 200126, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025 Jan 10;42(1):1-11. doi: 10.3760/cma.j.cn511374-20240723-00404.
Next generation sequencing (NGS) technology is playing an increasingly important role in the diagnosis of genetic diseases. Whole exome sequencing (WES) which targets the coding regions of the genome has been widely used in the diagnosis of genetic diseases for its low cost and high efficiency. However, compared to conventional methods, the NGS process is intricate, and there is variability in the expertise of data analysts and variant interpreters, which may lead to inconsistencies in the outcomes. To ensure the quality of testing and enhance the diagnostic rate of diseases, this consensus has provided recommendations regarding the laboratory setup, operational procedures, data analysis, result interpretation, and quality control for WES, with an aim to standardize its application in the detection of genetic disorders.
下一代测序（NGS）技术在遗传疾病的诊断中发挥着越来越重要的作用。针对基因组编码区域的全外显子组测序（WES）因其低成本和高效率，已在遗传疾病诊断中广泛应用。然而，与传统方法相比，NGS过程复杂，数据分析师和变异解读人员的专业水平存在差异，这可能导致结果不一致。为确保检测质量并提高疾病诊断率，本共识针对WES的实验室设置、操作程序、数据分析、结果解读和质量控制提供了建议，旨在规范其在遗传性疾病检测中的应用。
