The reference human genome sequence set the stage for studies of genetic variation and its
association with human disease, but epigenomic studies lack a similar reference. To …

We describe Hi-C, a method that probes the three-dimensional architecture of whole
genomes by coupling proximity-based ligation with massively parallel sequencing. We …

The laboratory mouse shares the majority of its protein-coding genes with humans, making it
the premier model organism in biomedical research, yet the two mammals differ in …

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

Abstract Development, differentiation and response to environmental stimuli are
characterized by sequential changes in cellular state initiated by the de novo binding of …

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 …

Localized accessibility of critical DNA sequences to the regulatory machinery is a key
requirement for regulation of human genes. Here we describe a high-resolution, genome …

The live attenuated bacillus Calmette-Guérin (BCG) vaccine for the prevention of disease
associated with Mycobacterium tuberculosis was derived from the closely related virulent …

Chromatin is composed of DNA and a variety of modified histones and non-histone proteins,
which have an impact on cell differentiation, gene regulation and other key cellular …

Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by
progressive skeletal overgrowth. The majority of affected individuals have been reported in …