Variation in stillbirth rates across high-income countries and large equity gaps within high-
income countries persist. If all high-income countries achieved stillbirth rates equal to the …

Whole-genome sequencing (WGS) has shown promise in becoming a first-tier diagnostic
test for patients with rare genetic disorders; however, standards addressing the definition …

The rapid evolution and widespread use of next generation sequencing (NGS) in clinical
laboratories has allowed an incredible progress in the genetic diagnostics of several …

Background Analyzing next-generation sequencing data is difficult because datasets are
large, second generation sequencing platforms have high error rates, and because each …

Although the benefits of next‐generation sequencing (NGS) for the diagnosis of
heterogeneous diseases such as intellectual disability (ID) are undisputed, there is little …

The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing
the scope of practice for clinical geneticists. Many large institutions are making a significant …

Objectives This study aimed to compare the costs of a next-generation sequencing-based
(NGS-based) panel testing strategy to those of a single-gene testing-based (SGT-based) …

Background Combined immunodeficiencies (CIDs) are diseases of defective adaptive
immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle …

Background Whole-exome sequencing (WES) consists in the capture, sequencing and
analysis of all exons in the human genome. Originally developed in the research context …

Despite the increased utilization of genome and exome sequencing, little is known about the
actual content and process of informed consent for sequencing. We addressed this by …