Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

ABSTRACT:

Background

Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectual and social abilities and common daily functioning. The rapid development of exome sequencing (ES) techniques, together with trio-based analysis, nowadays leads to up to 50% diagnostic yield. Therefore, it is considered as the state-of-the-art approach in these diagnoses.

Results

In our study, we present the results of ES in a cohort of 85 families with 90 children with severe NDDs and MCAs. The interconnection of the in-house bioinformatic pipeline and a unique algorithm for variant prioritization resulted in a diagnostic yield of up to 48.9% (44/90), inclu

SUBMITTER: Wayhelova M 

PROVIDER: S-EPMC10845791 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature