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 …

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

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

Increasing rates of autoimmune and inflammatory disease present a burgeoning threat to
human health. This is compounded by the limited efficacy of available treatments and high …

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 …

Epigenome editing has rapidly evolved in recent years, with diverse applications that
include elucidating gene regulation mechanisms, annotating coding and noncoding …

Enhancers control the location and timing of gene expression and contain the majority of
variants associated with disease,–. The ZRS is arguably the most well-studied vertebrate …

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 …

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 …

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 …