Bioinformatic tools in the clinical diagnosis of genetic disorders in children: Focus on next-generation sequencing

Advances in next-generation sequencing (NGS) have transformed the diagnostic approach to pediatric endocrine disorders, facilitating the detection of monogenic causes and contributing to the understanding of complex endocrine traits. Although specialized laboratories largely perform genomic data analysis, clinicians require a working understanding of variant interpretation to critically evaluate reports and integrate genetic findings into patient care. Bioinformatic tools play a crucial role in supporting this process by enabling systematic variant filtering, prioritization, and clinical interpretation. While bioinformatic tools are utilized across all stages of NGS analysis, including primary and secondary processing, this review focuses specifically on the clinically relevant aspects of tertiary analysis, particularly variant interpretation and prioritization. Emphasis is placed on resources most applicable to clinicians in routine practice. A representative clinical scenario is used to illustrate the practical application of these tools in translating genomic data into clinically meaningful insights. In conclusion, familiarity with these tools will help clinicians translate genomic data into meaningful clinical applications.