Abstract The cytokine interleukin-12 (IL-12) was thought to have a central role in T cell–
mediated responses in inflammation for more than a decade after it was first identified …

In tissues, macrophages are exposed to metabolic, homeostatic and immunoregulatory
signals of local or systemic origin that influence their basal functions and responses to …

Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …

INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

Natural genetic variation in the human genome is a cause of individual differences in
responses to medications and is an underappreciated burden on public health. Although …

Abstract The Ensembl Variant Effect Predictor is a powerful toolset for the analysis,
annotation, and prioritization of genomic variants in coding and non-coding regions. It …

Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

More than 90% of common variants associated with complex traits do not affect proteins
directly, but instead the circuits that control gene expression. This has increased the urgency …

Understanding the difference in genetic regulation of gene expression between brain and
blood is important for discovering genes for brain-related traits and disorders. Here, we …