The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …

With the completion of the human genome sequence, attention turned to identifying and
annotating its functional DNA elements. As a complement to genetic and comparative genomics …

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 constructed …

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, …

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 …

The ENCyclopedia Of DNA Elements (ENCODE) Project aims to identify all functional elements
in the human genome sequence. The pilot phase of the Project is focused on a specified …

The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term
goal of developing a comprehensive map of functional elements in the human genome. …

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

The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate these …

Chromatin immunoprecipitation (ChIP) followed by high-throughput DNA sequencing (ChIP-seq)
has become a valuable and widely used approach for mapping the genomic location of …