The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive
care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine …

Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …

Importance Whole-genome sequencing (WGS) shows promise as a first-line genetic test for
acutely ill infants, but widespread adoption and implementation requires evidence of an …

Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-
genome sequencing (rWGS) can diagnose genetic disorders in time to change acute …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group …