Hundreds of heritable traits and diseases that are caused by germline aberrations in
ubiquitously expressed genes manifest in a remarkably limited number of cell types and …

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and
promoting patient and family well-being. However, families with a rare genetic disease …

The gut microbiome plays a significant role in health and disease, and there is mounting
evidence indicating that the microbial composition is regulated in part by host genetics …

Background At least 50% of patients with suspected Mendelian disorders remain
undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding …

Structural variants (SVs) rearrange the linear and three-dimensional organization of the
genome, which can have profound consequences in evolution, diversity, and disease. As …

Monogenic intestinal epithelial disorders, also known as congenital diarrheas and
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …

Point mutations and structural variants that directly disrupt the coding sequence of MEF2C
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However …

Genome-wide association studies (GWAS) have revealed multiple genomic loci conferring
risk of bipolar disorder (BD), providing hints for its underlying pathobiology. However, there …

Gene structural annotation is a critical step in obtaining biological knowledge from genome
sequences yet remains a major challenge in genomics projects. Current de novo Hidden …

The proximal part of the small intestine, including duodenum and jejunum, is not only
dedicated to nutrient digestion and absorption but is also a highly regulated immune site …