Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease
unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical …

Ciliopathies are a group of clinically and genetically overlapping disorders whose etiologies
lie in defective cilia. These are antenna-like organelles on the apical surface of numerous …

Primary immunodeficiencies comprise a group of inborn errors of immunity that display
significant clinical and genetic heterogeneity. Next-generation sequencing techniques and …

Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors> 150 various proteins to the
cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored …

Missense variant interpretation is challenging. Essential regions for protein function are
conserved among gene-family members, and genetic variants within these regions are …

Whole exome sequencing is a powerful tool to detect novel pathogenic mutations in patients
with suspected mitochondrial disease. However, the interpretation of novel genetic variants …

Implementation of next-generation DNA sequencing (NGS) technology into routine
diagnostic genome care requires strategic choices. Instead of theoretical discussions on the …

In clinical exome sequencing (cES), the American College of Medical Genetics and
Genomics recommends limiting variant interpretation to established human-disease genes …

Congenital heart disease is the most common congenital anomaly, representing an
important cause of infant morbidity and mortality. Congenital heart disease represents a …

Familial dilated cardiomyopathy (DCM) is a heterogeneous disease; although 30 disease
genes have been discovered, they explain only no more than half of all cases; in addition …