Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

Nearly all human complex traits and disease phenotypes exhibit some degree of sex
differences, including differences in prevalence, age of onset, severity or disease …

Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

The human proteome is a major source of therapeutic targets. Recent genetic association
analyses of the plasma proteome enable systematic evaluation of the causal consequences …

INTRODUCTION Efforts to map quantitative trait loci (QTLs) across human tissues by the
GTEx Consortium and others have identified expression and splicing QTLs (eQTLs and …

Regulatory variants are often context specific, modulating gene expression in a subset of
possible cellular states. Although these genetic effects can play important roles in disease …

Recently, we reported oligoadenylate synthetase 1 (OAS1) contributed to the risk of
Alzheimer's disease, by its enrichment in transcriptional networks expressed by microglia …

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 …

The contribution of host genetic and nongenetic factors to immunological differences in
humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral …

The resolution of causal genetic variants informs understanding of disease biology. We used
regulatory quantitative trait loci (QTLs) from the BLUEPRINT, GTEx and eQTLGen projects to …