The proper activities of enhancers and gene promoters are essential for coordinated
transcription within a cell. Although diverse methodologies have been developed to identify …

A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Mutations in non-coding regulatory DNA sequences can alter gene expression, organismal
phenotype and fitness,–. Constructing complete fitness landscapes, in which DNA …

Abstract The Encyclopedia of DNA Elements (ENCODE) is an ongoing collaborative
research project aimed at identifying all the functional elements in the human and mouse …

The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …

Heritable variation in gene expression is common within and between species. This
variation arises from mutations that alter the form or function of molecular gene regulatory …

Massively parallel reporter gene assays are key tools in regulatory genomics but cannot be
used to identify cell-type-specific regulatory elements without performing assays serially …

The human gene catalogue is essentially complete, but we lack an equivalently vetted
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …

Gene regulation in the human genome is controlled by distal enhancers that activate specific
nearby promoters. A proposed model for this specificity is that promoters have sequence …

Enhancers are distal cis-regulatory elements that activate the transcription of their target
genes. They regulate a wide range of important biological functions and processes …