Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

ABSTRACT:

Importance

Copy number variants (CNVs) and single-nucleotide variations (SNVs) or insertions and deletions are key genetic contributors to neurodevelopmental disorders (NDDs). Traditionally, chromosome microarray and exome sequencing (ES) have been used to detect CNVs and single gene variants, respectively.

Objective

To identify genetic variants causing NDDs and evaluate the diagnostic yield and clinical utility of ES by simultaneously analyzing CNVs and SNVs in patients with NDDs and their biologic parents (trios).

Design, setting, and participants

This retrospective cohort study included pediatric patients with suspected NDDs who visited Shanghai Children's Hospital between January 1, 2018, and December 31, 2023. ES was used to investigate trios (trio-ES) including

SUBMITTER: Lan X 

PROVIDER: S-EPMC11937947 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature