Purpose We conducted a systematic literature review to summarize the current health
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …

Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …

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 …

Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …

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

Exome sequencing (ES) and genome sequencing (GS) have radically transformed the
diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation …

Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …

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 …

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 …

Purpose Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics,
however, there is no consensus on the timing of data review in undiagnosed individuals and …