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

VernacularTitle:遗传病基因变异全外显子组测序技术规范化应用专家共识
Author: Yun BAO ¹ ; Yanjie FAN ; Meng SU ; Bingbing WU ; Xiaobo HU ; Jian WANG ; Yongguo YU ; Taosheng HUANG
Author Information

1. 上海市临床检验中心，上海　200126
Publication Type:Journal Article
Keywords: Whole exome sequencing; Next generation sequencing; Quality control; Variant interpretation
From: Chinese Journal of Medical Genetics 2025;42(1):1-11
CountryChina
Language:Chinese
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 Next Generation Sequencing (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.