Purpose Next-generation sequencing has revealed the major impact of de novo variants
(DNVs) in developmental disorders (DD) such as intellectual disability, autism, and epilepsy …

Owing to recent advances in DNA sequencing technology, a number of large‐scale
comprehensive analyses of genetic variations in protein‐coding regions (ie, whole‐exome …

Currently, many studies on neuropsychiatric disorders have utilized massive trio-based
whole-exome sequencing (WES) and whole-genome sequencing (WGS) to identify …

Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an
increased risk of autosomal recessive genetic conditions, leading to severe disability or …

Human germline mutations arise anew during meiosis in every generation. Such
spontaneously occurring genetic variants are termed de novo mutations. Although the …

Whole‐genome or whole‐exome sequencing (WGS/WES) of the affected proband together
with normal parents (trio) is commonly adopted to identify de novo germline mutations …

Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD)
remains inconclusive in> 50% of the cases. Research analysis of unsolved cases can …

The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …

Objective This study is to investigate the diagnostic yield of the combination of trio whole
exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq) for rare …

Exome sequencing (ES) is an important diagnostic tool for individuals with
neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA) …