Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

ABSTRACT:

Background

Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases are highly heterogeneous and both genetic and environmental factors play an important role in many of them. The introduction of next generation sequencing (NGS) has lead to the detection of genetic variants in several genetic diseases. The main aim of this report is to discuss the impact and advantages of the implementation of NGS in the diagnosis of NDDs. Herein, we report diagnostic yields of applying whole exome sequencing in 87 families affected by NDDs and additional data of whole genome sequencing (WGS) from 12 of these families.

Results

The use of

SUBMITTER: Alvarez-Mora MI 

PROVIDER: S-EPMC8858550 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature