Cell type-specific gene expression patterns and dynamics during development or in disease
are controlled by cis-regulatory elements (CREs), such as promoters and enhancers. …

Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …

The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …

To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we
aggregated published meta-analyses of genome-wide association studies (GWAS), including …

To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum,
we conducted a meta-analysis of genome-wide association data from 26,676 T2D case …

Tissue-specific transcriptional regulation is central to human disease 1 . To identify
regulatory DNA active in human pancreatic islets, we profiled chromatin by formaldehyde-assisted …

Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

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 is a key mediator of obesity-related cardiometabolic disease, yet the
mechanisms underlying this link remain obscure. Using an integrative genomic approach, we …

Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding 1 . Translating these risk variants into mechanistic …