DNase I hypersensitive sites (DHSs) are markers of regulatory DNA and have underpinned
the discovery of all classes of cis-regulatory elements including enhancers, promoters, …

Genome-wide association studies have identified many noncoding variants associated with
common diseases and traits. We show that these variants are concentrated in regulatory …

Regulatory factor binding to genomic DNA protects the underlying sequence from cleavage
by DNase I, leaving nucleotide-resolution footprints. Using genomic DNase I footprinting …

The large and growing number of genome-wide datasets highlights the need for high-performance
feature analysis and data comparison methods, in addition to efficient data storage …

Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high-…

CTCF is a ubiquitously expressed regulator of fundamental genomic processes including
transcription, intra- and interchromosomal interactions, and chromatin structure. Because of its …

Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral
density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative …

The extent to which low‐frequency (minor allele frequency (MAF) between 1–5%) and rare (MAF
≤ 1%) variants contribute to complex traits and disease in the general population is …

Regulatory T cells (Tregs), which are characterized by expression of the transcription factor
Foxp3, are a dynamic and heterogeneous population of cells that control immune responses …

Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral
density (BMD). We undertook a genome-wide association study (GWAS) in 142,487 …