{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hoang TL"],"funding":["Screening and Etiology Diagnosis of Genetic Mental Retardation in Vietnamese people"],"pagination":["2821"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12651281"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(22)"],"pubmed_abstract":["<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 "],"journal":["Diagnostics (Basel, Switzerland)"],"pubmed_title":["Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort."],"pmcid":["PMC12651281"],"funding_grant_id":["ĐTĐL.CN-80/22"],"pubmed_authors":["Ho CT","Vu TH","Nguyen TMN","Do PT","Pham QP","Hoang TNL","Nguyen TPM","Hoang TL","Nguyen HDA","Giang H","Nguyen TT","Vu CD","Ninh To TT","Nguyen QT","Doan TKP","Luong TLA","Dao TT","Nguyen PM"],"additional_accession":[]},"is_claimable":false,"name":"Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.","description":"<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 ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-05-19T03:13:34.335Z","creation":"2026-05-19T03:10:33.408Z"},"accession":"S-EPMC12651281","cross_references":{"pubmed":["41300846"],"doi":["10.3390/diagnostics15222821"]}}