We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

Purpose We sought to determine the analytical sensitivity of several extended exome
variation analysis approaches in terms of their contribution to diagnostic yield and their …

Background Exome sequencing (ES) has been successfully applied in clinical detection of
single nucleotide variants (SNVs) and small indels. However, identification of copy number …

Although whole‐exome sequencing (WES) is the gold standard for the diagnosis of
neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers …

Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …

Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic
causes of disease improves, periodic reanalysis of clinical exome sequence could yield new …

Purpose Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving …

Disease gene discovery has been transformed by affordable sequencing of exomes and
genomes. Identification of disease‐causing mutations requires sifting through a large …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …