During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …

BACKGROUND Ribosomopathies are a heterogeneous group of human disorders that are
in some cases known, and in other cases suspected, to result from ribosome dysfunction …

Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

Long-range interactions between regulatory elements and gene promoters play key roles in
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …

MYB transcription factors are highly conserved from plants to vertebrates, indicating that
their functions embrace fundamental mechanisms in the biology of cells and organisms. In …

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

Since the original identification of the T helper 17 (Th17) subset in 2005, it has become
evident that these cells do not only contribute to host defence against pathogens, such as …

Gene expression in mammals is precisely regulated by the combination of promoters and
gene-distal regulatory regions, known as enhancers. Several studies have suggested that …

The remarkable phenotypic diversity of β thalassemia that range from severe anemia and
transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of …

Asthma is a complex and heterogeneous chronic inflammatory disease of the airways.
Alongside environmental factors, asthma susceptibility is strongly influenced by genetics …