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

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

doi:10.3760/cma.j.cn511374-20240723-00404

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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025 Jan 10;42(1):1-11. doi: 10.3760/cma.j.cn511374-20240723-00404.

[Article in Chinese]

Authors

Medical Genetics Branch Of Chinese Medical Association¹, 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

Affiliation

¹ Shanghai Clinical Laboratory Center, Shanghai 200126, China. [email protected].

PMID: 39779330
DOI: 10.3760/cma.j.cn511374-20240723-00404

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.

Publication types

English Abstract

MeSH terms

Consensus
Exome / genetics
Exome Sequencing* / methods
Exome Sequencing* / standards
Genetic Diseases, Inborn* / diagnosis
Genetic Diseases, Inborn* / genetics
Genetic Testing / methods
Genetic Testing / standards
High-Throughput Nucleotide Sequencing* / methods
High-Throughput Nucleotide Sequencing* / standards
Humans