Recent studies have demonstrated that gene set analysis, which tests disease association
with genetic variants in a group of functionally related genes, is a promising approach for …

The last decade of human genetic research witnessed the completion of hundreds of
genome-wide association studies (GWASs). However, the genetic variants discovered …

The discovery of expression quantitative trait loci (“eQTLs”) can help to unravel genetic
contributions to complex traits. We identified genetic determinants of human liver gene …

Diabetic retinopathy is a leading cause of blindness. The purpose of this study is to identify
novel genetic loci associated with the sight threatening complications of diabetic retinopathy …

Aims/hypothesis We conducted genome-wide association studies (GWASs) and expression
quantitative trait loci (eQTL) analyses to identify and characterise risk loci for type 2 diabetes …

Obesity is a global health problem that is gradually affecting each continent of the world.
Obesity is a heterogeneous disorder, and the biological causes of obesity are complex. The …

In an attempt to identify common disease susceptibility alleles for breast cancer, we
performed a combined analysis of three genome-wide association studies (GWAS) …

The search for the missing heritability in genome‐wide association studies (GWAS) has
become an important focus for the human genetics community. One suspected location of …

Background Human chromosomal region 8q24 contains several genes which could be
functionally related to cancer, including the proto-oncogene c-MYC. However, the …

We conducted a comprehensive study of copy number variants (CNVs) well-tagged by SNPs
(r2≥ 0.8) by analyzing their effect on gene expression and their association with disease …