One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …

Rare diseases occur in a smaller proportion of the general population, which is variedly
defined as less than 200 000 individuals (US) or in less than 1 in 2000 individuals (Europe) …

PURPOSE The identification of a heritable tumor predisposition often leads to changes in
management and increased surveillance of individuals who are at risk; however, for many …

Background & Aims Hirschsprung disease, or congenital aganglionosis, is believed to be
oligogenic—that is, caused by multiple genetic factors. We performed whole-genome …

The T cell receptor (TCR) signaling pathway is an ensemble of numerous proteins that are
crucial for an adequate immune response. Disruption of any protein involved in this pathway …

Schizophrenia (SCZ) is influenced by a combination of genetic and environmental factors.
Although several studies have been conducted to identify the causative loci and genes, few …

The advances of large-scale genomics studies have enabled compilation of cell type–
specific, genome-wide DNA functional elements at high resolution. With the growing volume …

Retinoid metabolites of vitamin A are intrinsically linked to neural development, connectivity
and plasticity, and have been implicated in the pathophysiology of schizophrenia. We …

Introduction: Hemophilia A (HA) is an X-linked bleeding disorder caused by factor VIII (FVIII)
deficiency or dysfunction due to F8 gene mutations. HA carriers are usually asymptomatic …

Abstract Recently, the American College of Medical Genetics (ACMG) recommended the
return of actionable secondary findings detected from clinical sequencing. The reported …