Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.

ABSTRACT: Background: 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. Methods: 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

SUBMITTER: Hoang TL 

PROVIDER: S-EPMC12651281 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature