# Clinical Exome Sequencing in Pediatric Patients

## TL;DR

This study shows that clinical exome sequencing can effectively diagnose 60% of childhood genetic diseases and identifies 30 new mutations.

## Contribution

The study contributes 30 novel mutations to the understanding of genetic disorder profiles in pediatric patients.

## Key findings

- CES detected significant variants in 60% of 68 pediatric patients with suspected genetic disorders.
- 30 of the 46 identified single nucleotide variants were previously unreported in the literature.
- Copy number variations were found in two patients, while the rest had single nucleotide variants.

## Abstract

Introduction: The development of genomic sequencing techniques has led to the effective diagnosis of genetic diseases. In this study, clinical exome sequencing (CES) results applied to genetic disorders are reported.

Methods: The CES results of pediatric patients with different system involvements and whose complaints were thought to be of genetic origin were evaluated retrospectively.

Results: Significant variants associated with complaints were detected in 41 (60%) of 68 patients. Copy number variations were detected in two patients, and single nucleotide variants (SNVs) were detected in the other 39 patients. A total of 46 SNVs were detected in these 39 patients. Sixteen of the detected SNVs were previously reported in the literature, but 30 were novel.

Conclusions: This study shows that CES can provide a high diagnosis rate (60%) in childhood genetic diseases. Novel mutations (30) have contributed to the mutation profiles of genetic disorders.