Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Cytosine methylation is a DNA modification generally associated with transcriptional
silencing. Factors that regulate methylation have been linked to human disease, yet how …

INTRODUCTION Microglia play essential roles in central nervous system homeostasis and
influence diverse aspects of neuronal function, including refinement of synaptic networks …

Identifying functional effects of noncoding variants is a major challenge in human genetics.
To predict the noncoding-variant effects de novo from sequence, we developed a deep …

Higher-order chromatin structure is emerging as an important regulator of gene expression.
Although dynamic chromatin structures have been identified in the genome, the full scope of …

We report a multi-omic resource generated by applying quantitative trait locus (xQTL)
analyses to RNA sequence, DNA methylation and histone acetylation data from the …

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 …

Recent technological advances have expanded the breadth of available omic data, from
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …

The human body contains several hundred cell types, all of which share the same genome.
In metazoans, much of the regulatory code that drives cell type-specific gene expression is …

Genome-wide association studies (GWAS) have identified numerous genetic variants
associated with complex diseases, but mechanistic insights are impeded by a lack of …