Precise patterns of gene expression in metazoans are controlled by three classes of
regulatory elements: promoters, enhancers and boundary elements. During differentiation …

Research into the molecular genetics of osteoarthritis (OA) has been substantially bolstered
in the past few years by the implementation of powerful genome-wide scans that have …

Protein aggregation is the hallmark of neurodegeneration, but the molecular mechanisms
underlying late-onset Alzheimer's disease (AD) are unclear. Here we integrated …

Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …

Transposable elements (TEs) are an abundant and rich genetic resource of regulatory
sequences,–. Cryptic regulatory elements within TEs can be epigenetically reactivated in …

Abstract N 6-methyladenosine (m6A) plays important roles in regulating messenger RNA
processing. Despite rapid progress in this field, little is known about the genetic …

The transcriptome contains rich information on molecular, cellular and organismal
phenotypes. However, experimental and statistical limitations constrain sensitivity and …

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 …

A hallmark of the immune system is the interplay among specialized cell types transitioning
between resting and stimulated states. The gene regulatory landscape of this dynamic …

Control of DNA methylation level is critical for gene regulation, and the factors that govern
hypomethylation at CpG islands (CGIs) are still being uncovered. Here, we provide evidence …