Whole-exome sequencing for the diagnosis of genetic diseases in Henan province
Objective:To investigate the diagnosis and characterization of whole-exome sequencing technologies in the diagnosis of genetic diseases in Henan.Methods:From October 2019 to April 2022,a total of 365 patients with suspected hereditary disorders were analyzed by whole-exome sequencing(WES)at the Zhengzhou KingMed Center for Clinical Laboratory.Patients provided relevant clinical data,including chief complaints,initial diagnosis,and relevant test results.Patients with monogenic disorders with single base variations were analyzed by Sanger sequencing.Results:In this study,the positive rate was 40.55％(28.22％for single base variants and 12.33％for copy number variants),including 12 cases of Duchenne/Becker muscular dystrophy,7 cases of Methylmalonic acidemia,48 cases of developmental delay spectrum disease,and 28 cases of epilepsy.Conclusion:WES can provide an effective molecular diagnostic basis for patients with genetically specific or nonspecific abnormal disease manifestations.Exon-predicted copy number variant(CNV)analysis of WES results can significantly improve the positive rate.
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