Type 2 diabetes affects over 300 million people, causing severe complications and premature
death, yet the underlying molecular mechanisms are largely unknown. Pancreatic islet …

Insulin resistance (IR) is largely recognized as a unifying feature that underlies metabolic
dysfunction. Both lifestyle and genetic factors contribute to IR. Work from recent years has …

Genetic studies promise to provide insight into the molecular mechanisms underlying type 2
diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer …

The genomic regulatory programmes that underlie human organogenesis are poorly
understood. Pancreas development, in particular, has pivotal implications for pancreatic …

The contribution of cis-regulatory mutations to human disease remains poorly understood.
Whole-genome sequencing can identify all noncoding variants, yet the discrimination of …

The liver plays a key role in sensing nutritional and hormonal inputs to maintain metabolic
homeostasis. Recent studies into pre-mRNA splicing and alternative splicing (AS) and their …

Liver sinusoidal endothelial cells (LSECs) are highly specialised endothelial cells that form
the liver microvasculature. LSECs maintain liver homeostasis, scavenging bloodborne …

Background Rare genetic variants cause pulmonary arterial hypertension, but the contribution
of common genetic variation to disease risk and natural history is poorly characterised. …

Associations between human genetic variation and clinical phenotypes have become a
foundation of biomedical research. Most repositories of these data seek to be disease-agnostic …

RNA alternative splicing (AS) expands the regulatory potential of eukaryotic genomes. The
mechanisms regulating liver-specific AS profiles and their contribution to liver function are …