The past two decades have seen significant advancements in next-generation sequencing (NGS) technology. The growing accessibility of whole exome and genome sequencing (WES, WGS) brought a true revolution to the clinical practice of numerous fields in pediatrics. Their dramatic effects, initially most prominently felt in the evaluation of neurodevelopmental disorders, are now an integral part of virtually every pediatric subspecialty. Not only do these tools significantly shorten the diagnostic odyssey for many families affected with rare monogenic disorders, they also facilitate novel gene discovery. Indeed, WES and WGS had unveiled countless new associations between genes and human phenotypes, and will continue to shed new light on poorly understood pathomechanisms underlying inherited disorders affecting infants and children.

The goal of this Research Topic is to provide updated insights into the clinical utility and diagnostic yield of NGS technologies in a wide array of pediatric subspecialties and clinical indications, and shed new light on the strengths and challenges these methodologies introduce as they revolutionize the way we practice pediatrics. Furthermore, we aim to showcase new discoveries into associations between genes and human phenotypes affecting infants and children, enabled by next generation sequencing.

We will consider Original Research, Brief Research Report, and Review articles covering (but not limited to) the following themes:

1. Identification of novel genes and their impact on the pathophysiology of human phenotypes affecting infants and children.

2. Novel findings exploring the role of genes known to be associated with inherited disorders affecting infants and children.

3. Molecular basis of inherited conditions affecting infants and children.

4. Clinical utility and factors affecting the diagnostic yield of exome or genome sequencing in diverse clinical indications in the pediatric population.

Please note: Case reports will not be considered for publication in this Research Topic.

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Frontiers in Pediatrics

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