The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …

Genetic studies have revealed that autoimmune susceptibility variants are over-represented
in memory CD4+ T cell regulatory elements–. Understanding how genetic variation affects …

During activation, T cells undergo extensive gene expression changes that shape the
properties of cells to exert their effector function. Understanding the regulation of this …

Most autoimmune-disease-risk effects identified by genome-wide association studies
(GWAS) localize to open chromatin with gene-regulatory activity. GWAS loci are also …

To extend our understanding of the genetic basis of human immune function and
dysfunction, we performed an expression quantitative trait locus (eQTL) study of purified …

Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …

Although genome-wide association studies have implicated many individual loci in complex
diseases, identifying the exact causal alleles and the cell types within which they act …

A hallmark of the immune system is the interplay among specialized cell types transitioning
between resting and stimulated states. The gene regulatory landscape of this dynamic …

Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high …

Over 90% of genetic variants associated with complex human traits map to non-coding
regions, but little is understood about how they modulate gene regulation in health and …