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 …

The research and clinical use of genome‐wide sequencing for prenatal diagnosis of fetuses
at risk for genetic disorders have rapidly increased in recent years. Current data indicate that …

Despite large sequencing and data sharing efforts, previously characterized pathogenic
variants only account for a fraction of Mendelian disease patients, which highlights the need …

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

Background Long-read whole genome sequencing (lrWGS) has the potential to address the
technical limitations of exome sequencing in ways not possible by short-read WGS …

It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower
among patients with non-European ancestries than those with European ancestry. We …

Background In order to facilitate the diagnostic process for adult patients suffering from a
rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the …

Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic
disorders, but the proportion of patients found to have pathogenic or likely pathogenic …

Objective To evaluate genetic evaluation practices in newborns with the most common birth
defect, congenital heart defects (CHD), we determined the prevalence and the yield of …

Background and Objectives Owing to their extensive clinical and molecular heterogeneity,
hereditary neurologic diseases in adults are difficult to diagnose. The current knowledge …