Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

ABSTRACT:

Background

Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country's healthy population.

Methods

The study retrospectively analyzed WES or gene panel sequen

SUBMITTER: Shchubelka K 

PROVIDER: S-EPMC10967201 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature