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

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

Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …

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

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 …

Abstract The Genotype-Tissue Expression (GTEx) resource has provided insights into the
regulatory impact of genetic variation on gene expression across human tissues; however …

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) …

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