biostudies-literatureHoang TLScreening and Etiology Diagnosis of Genetic Mental Retardation in Vietnamese people2821https://www.ebi.ac.uk/biostudies/studies/S-EPMC12651281biostudies-literatureUnknown15(22)<b>Background</b>: Intellectual disability (ID) is a heterogeneous condition caused by diverse genetic factors, including single-nucleotide variants (SNVs) and copy number variants (CNVs). Whole-exome sequencing (WES) and clinical exome sequencing (CES) have become essential tools for identifying pathogenic variants; however, their relative diagnostic performance in ID has not been fully characterized. <b>Methods</b>: Children diagnosed with ID or related neurodevelopmental disorders underwent WES or CES. Identified variants were classified according to ACMG/AMP and ClinGen guidelines, with segregation analysis performed when parental samples were available. Diagnostic yields were compared across demographic, prenatal, and phenotypic subgroups. A multidimensional semi-quantitative scoring Diagnostics (Basel, Switzerland)Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.PMC12651281ĐTĐL.CN-80/22Ho CTVu THNguyen TMNDo PTPham QPHoang TNLNguyen TPMHoang TLNguyen HDAGiang HNguyen TTVu CDNinh To TTNguyen QTDoan TKPLuong TLADao TTNguyen PMfalseMaximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.<b>Background</b>: Intellectual disability (ID) is a heterogeneous condition caused by diverse genetic factors, including single-nucleotide variants (SNVs) and copy number variants (CNVs). Whole-exome sequencing (WES) and clinical exome sequencing (CES) have become essential tools for identifying pathogenic variants; however, their relative diagnostic performance in ID has not been fully characterized. <b>Methods</b>: Children diagnosed with ID or related neurodevelopmental disorders underwent WES or CES. Identified variants were classified according to ACMG/AMP and ClinGen guidelines, with segregation analysis performed when parental samples were available. Diagnostic yields were compared across demographic, prenatal, and phenotypic subgroups. A multidimensional semi-quantitative scoring 2025-01-01T00:00:00Z2025 Nov2026-05-19T03:13:34.335Z2026-05-19T03:10:33.408ZS-EPMC126512814130084610.3390/diagnostics15222821