We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …

Sequence-specific transcription factors (TFs) regulate gene expression by binding to cis-
regulatory elements in promoter and enhancer DNA. While studies of TF–DNA binding have …

Most complex trait-associated variants are located in non-coding regulatory regions of the
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …

Methodological breakthroughs over the past four decades have repeatedly revolutionized
transcriptome profiling. Using RNA sequencing (RNA-seq), it has now become possible to …

Single-cell RNA-seq mammalian transcriptome studies are at an early stage in uncovering
cell-to-cell variation in gene expression, transcript processing and editing, and regulatory …

Th17 cells have critical roles in mucosal defense and are major contributors to inflammatory
disease. Their differentiation requires the nuclear hormone receptor RORγt working with …

Histone modifications are important markers of function and chromatin state, yet the DNA
sequence elements that direct them to specific genomic locations are poorly understood …

Embryogenesis is remarkably robust to segregating mutations and environmental variation;
under a range of conditions, embryos of a given species develop into stereotypically …

The mechanisms by which genetic variation affects transcription regulation and phenotypes
at the nucleotide level are incompletely understood. Here we use natural genetic variation …

The majority of disease-associated variants lie outside protein-coding regions, suggesting a
link between variation in regulatory regions and disease predisposition. We studied …