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 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 …

Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …

Genome sequencing is used to make genetic diagnoses in critically ill infants with rapid
turnaround time (TAT). Herein, to delineate the value of a genetic diagnosis, we provide the …

To evaluate the additional diagnostic yield of whole exome sequencing (WES) reanalysis in
patients with epilepsy and intellectual disability/mental retardation, we reanalyzed raw WES …

Context Massively parallel sequencing (MPS) technologies have emerged as a first-tier
approach for diagnosing several pediatric genetic syndromes. However, MPS has not been …

Different newborn screening (NBS) programs have been practiced in many countries since
the 1960s. It is of considerable interest whether next-generation sequencing is applicable in …

Purpose: We evaluate the power of a next-generation sequencing-based ophthalmic
targeted sequencing panel (NGS-based OTSP) as a genetics-testing tool for patients …

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The
incorporation of next-generation sequencing into clinical settings, particularly exome and …

Emerging evidence demonstrates the clinical utility of genomic applications in newborn
intensive care unit (NICU) patients with strong indications of Mendelian etiology. However …