[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders].

Q4 Medicine 中华医学遗传学杂志 Pub Date : 2025-01-10 DOI:10.3760/cma.j.cn511374-20240723-00404

Medical Genetics Branch Of Chinese Medical Association, Birth Defects And Molecular Genetics Branch Of China Maternal And Child Health Care Association, Clinical Genetics Professional Committee Of Shanghai Medical Association, Molecular Diagnosis Branch Of Shanghai Medical Association, Yun Bao, Yanjie Fan, Meng Su, Bingbing Wu, Xiaobo Hu, Jian Wang, Yongguo Yu, Taosheng Huang

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Abstract

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.

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【全外显子组测序技术在遗传疾病诊断中的标准化应用专家共识】。

下一代测序（NGS）技术在遗传病诊断中发挥着越来越重要的作用。针对基因组编码区的全外显子组测序（WES）因其成本低、效率高而广泛应用于遗传病的诊断。然而，与传统方法相比，NGS过程是复杂的，并且数据分析师和变量解释者的专业知识存在差异，这可能导致结果不一致。为保证检测质量，提高疾病诊断率，本共识从WES的实验室设置、操作流程、数据分析、结果解释、质量控制等方面提出了建议，旨在规范其在遗传病检测中的应用。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.