Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …

The last few years have seen the development of large efforts for the analysis of genome
function, especially in the context of genome variation. One of the most prominent directions …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic
outcomes, independent of overall adiposity. To increase our understanding of the genetic …

Previous genome-wide association studies (GWAS), conducted by our group and others,
have identified loci that harbor risk variants for neurodegenerative diseases, including …

We performed a genome-wide association study (GWAS) of IgA nephropathy (IgAN), the
most common form of glomerulonephritis, with discovery and follow-up in 20,612 individuals …

Age at menarche is a marker of timing of puberty in females. It varies widely between
individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes …

Most genomic variants associated with phenotypic traits or disease do not fall within gene
coding regions, but in regulatory regions, rendering their interpretation difficult. We collected …

Abstract The 1000 Genomes Project aims to provide a deep characterisation of human
genome sequence variation as a foundation for investigating the relationship between …

Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain
largely elusive. To identify genetic loci for obesity susceptibility, we examined associations …