With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

Chronic infections can lead to carcinogenesis through inflammation-related mechanisms.
Chronic infection of the human gastric mucosa with Helicobacter pylori is a well-known risk …

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition
syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations …

Short tandemly repeated DNA sequences, termed microsatellites, are abundant in the
human genome. These microsatellites exhibit length instability and susceptibility to DNA …

Thalassemia is one of the most common single-gene disorder worldwide. An important
genetic cause of thalassemia is copy number variations (CNVs) in the α-globin gene cluster …

Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been
systematically underascertained owing to sequencing technology limitations. Long-read …

Xq22 deletions that encompass PLP1 (Xq22‐PLP1‐DEL) are notable for variable
expressivity of neurological disease traits in females ranging from a mild late‐onset form of …

Although recessive mutations in LAMA2 are already known to cause laminin α2-related
muscular dystrophy, a rare neuromuscular disorder, large deletions or duplications within …

Human centromeres are remarkable in four ways: they are i) defined epigenetically by an
elevated concentration of the histone H3 variant CENP-A, ii) inherited epigenetically by trans …

Copy number variants (CNV) are structural variants consisting of duplications or deletions of
genomic fragments longer than 1 kb that present variability in the population and are …