Distal transcription enhancers are cis-regulatory elements that promote gene expression,
enabling spatiotemporal control of genetic programs such as those required in metazoan …

Genome-wide association studies (GWAS) have reproducibly associated variants within
introns of FTO with increased risk for obesity and type 2 diabetes (T2D) 1 , 2 , 3 . Although the …

The potency of the immune response has still to be harnessed effectively to combat human
cancers. However, the discovery of T-cell targets in melanomas and other tumors has raised …

Alternative splicing is a very frequent phenomenon in the human transcriptome. There are
four major types of alternative splicing: exon skipping, alternative 3′ splice site, alternative 5…

Background One of the least common types of alternative splicing is the complete retention
of an intron in a mature transcript. Intron retention (IR) is believed to be the result of intron, …

Whereas coding variants often have pleiotropic effects across multiple tissues, noncoding
variants are thought to mediate their phenotypic effects by specific tissue and temporal …

The epigenome provides a substrate through which environmental exposures can exert
their effects on gene expression and disease risk, but the relative importance of epigenetic …

10.7554/eLife.35788.001 Over 500 genetic loci have been associated with risk of cardiovascular
diseases (CVDs); however, most loci are located in gene-distal non-coding regions and …

Obesity-associated morbidity is exacerbated by abdominal obesity, which can be measured
as the waist-to-hip ratio adjusted for the body mass index (WHRadjBMI). Here we identify …

The various organogenic programs deployed during embryonic development rely on the
precise expression of a multitude of genes in time and space. Identifying the cis-regulatory …