Application of WES accompanied by CNVseq in the diagnosis of pediatric genetic diseases
Objective To explore the significance of whole exome sequencing(WES)accompanied by copy number variation sequencing(CNVseq)in the diagnosis of pediatric genetic diseases.Methods Children with suspected genetic diseases or unclear clinical diagnosis admitted to the departments of neonatology and pediatrics of Women & Infants Hospital of Zhengzhou from August 2019 to July 2023 were selected as the study objects.The peripheral blood of the children and their parents were collected for WES and CNVseq.The detected genetic mutations were classified according to American College of Medical Genetics and Genomics(ACMG)classification,and Sanger sequencing or qPCR was performed to verify the mutations.Results A total of 33 children were enrolled,including 18 boys and 15 girls,aged 1 d to 8 years.The positive detection rate of WES was 36.4％(12/33),the positive detection rate of CNVseq was 9.1％(3/33),and the positive detection rate of the combination of WES and CNVseq was 45.5％(15/33).Conclusion WES accompanied by CNVseq is a powerful tool for molecular diagnosis of pediatric genetic diseases and can be widely used as a first-line detection method in clinical practice.
Whole exome sequencingCopy number variation sequencingGenetic diseasesDiagnostic rateChildren
万方数据
维普
