Abstract
Background: This study aimed to: 1) Investigate the genomic content of CNVs detected by next-generation sequencing; 2) Determine CNV classification detected by NGS using ACMG/ClinGen standards.
Materials and methods: 33 CNVs detected by next-generation sequencing of 31 individuals examined and consulted at the Department of Medical Genetics from January 2023 to December 2024.
Results: Regarding the genomic characteristics of CNVs, deletions and duplications accounted for 51.5% and 48.5%, respectively. The majority of CNVs were microdeletions/microduplications, less than 5 Mb in size (75.8%). The average number of protein-coding genes was 33.4 ± 49.4. CNVs were found to be distributed on almost all chromosomes. In terms of CNV classification using ACMG/ClinGen criteria, pathogenic CNV (pCNV) and likely pathogenic CNV (lpCNV) accounted for 36.3% and 12.1%, respectively. Meanwhile, benign CNV (bCNV) and likely benign CNV (lbCNV) both accounted for 6.1%. Notably, variant of uncertain significance (VUS) accounted for 39.4%. There was a difference in size of p/lpCNVs compared to the VUS and b/lbCNV.
Conclusion: The detected CNVs included deletion and duplication, most of which were minor in size. We classified CNVs based on clinical significance using the ACMG/ClinGen criteria, providing valuable information for genetic counseling.
| Published | 2025-09-30 | |
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| Issue | Vol. 15 No. 5 (2025) | |
| Section | Original Articles | |
| DOI | 10.34071/jmp.2025.5.18 | |
| Keywords | Biến thể số bản sao, giải trình tự thế hệ mới, tiêu chuẩn ACMG/ClinGen, CNV gây bệnh, VUS |
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Copyright (c) 2025 Hue Journal of Medicine and Pharmacy
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