A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions 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 …

Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study …

Low-coverage whole-genome sequencing followed by imputation has been proposed as a
cost-effective genoty** approach for disease and population genetics studies. However …

Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …

Abstract Topologically Associating Domains (TADs) separate vertebrate genomes into
insulated regulatory neighborhoods that focus genome-associated processes. TADs are …

Rapidly develo** technologies have recently fueled an exciting era of discovery in the
field of chromosome structure and nuclear organization. In addition to chromosome …