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 …

Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …

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

Genetic studies have revealed many variant loci that are associated with immune-mediated
diseases. To elucidate the disease pathogenesis, it is essential to understand the function of …

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 …

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

Cannabis use is a heritable trait that has been associated with adverse mental health
outcomes. In the largest genome-wide association study (GWAS) for lifetime cannabis use to …

Genome-wide association studies have identified thousands of genetic variants that are
associated with disease. Most of these variants have small effect sizes, but their downstream …

Transcriptome-wide association analysis is a powerful approach to studying the genetic
architecture of complex traits. A key component of this approach is to build a model to impute …

While large-scale, genome-wide association studies (GWAS) have identified hundreds of
loci associated with brain-related traits, identification of the variants, genes and molecular …