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

Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …

The standard of care for first-tier clinical investigation of the aetiology of congenital
malformations and neurodevelopmental disorders is chromosome microarray analysis …

Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …

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

As test costs decline, whole-exome sequencing (WES) has become increasingly used for
clinical diagnosis, and now represents the primary alternative to gene panel testing for …

Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Whole genome sequencing (WGS) has the potential to be a comprehensive genetic test,
especially relevant for individuals with neurodevelopmental disorders, syndromes and …

Purpose This study aimed to estimate the cost-effectiveness of exome sequencing (ES) and
genome sequencing (GS) for children. Methods We modeled costs, diagnoses, and quality …

Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed …