Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).

ABSTRACT:

Background

Genetic neurodevelopmental disorders (g-NDDs), a complex group of idiopathic syndromes with a heterogeneous genetic etiology, are defined as global developmental delay/intellectual disability (GDD/ID) with other common neurodevelopmental comorbidity (NDC), such as autism spectrum disorder (ASD). Although significant progress has been made in trio-based whole-exome sequencing (trio-WES) that enable the detection of exon-level variants, the diagnostic efficacy of using trio-WES for g-NDDs is still not satisfactory. Therefore, exploring key phenotypic variables for forecasting the diagnostic probability of trio-WES is extremely necessary to implement personalized diagnosis for children with g-NDDs.

Methods

A total of 265 g-NDDs children who received trio-WES at Sun Y

SUBMITTER: Wu R 

PROVIDER: S-EPMC12568429 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature