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

Studies correlating genetic variation to gene expression facilitate the interpretation of
common human phenotypes and disease. As functional variants may be operating in a …

The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …

We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues
from the Genotype-Tissue Expression project and genome-wide association study data …

Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …

Genetic regulation of gene expression is dynamic, as transcription can change during cell
differentiation and across cell types. We mapped expression quantitative trait loci (eQTLs) …

Genetic variants have been associated with myriad molecular phenotypes that provide new
insight into the range of mechanisms underlying genetic traits and diseases. Identifying any …

Uncovering the functional impact of genetic variation on gene expression is important in
understanding tissue biology and the pathogenesis of complex traits. Despite large efforts to …

Associations between genetic variation and traits are often in noncoding regions with strong
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …

Genome-wide association studies of gene expression traits and other cellular phenotypes
have successfully identified links between genetic variation and biological processes. The …