Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …

Despite the extensive discovery of trait- and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …

Genome-wide association (GWA) studies have identified a large number of SNPs associated
with disease phenotypes. As most GWA studies have been performed in populations of …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

The goal of the International HapMap Project is to determine the common patterns of DNA
sequence variation in the human genome and to make this information freely available in the …

Background The incidence of hematologic cancers increases with age. These cancers are
associated with recurrent somatic mutations in specific genes. We hypothesized that such …

Identifying the genetic variants that increase the risk of type 2 diabetes (T2D) in humans has
been a formidable challenge. Adopting a genome-wide association strategy, we genotyped …

Genome-wide association studies (GWAS) have revealed hundreds of loci associated with
common human genetic diseases and traits. We have developed a web-based plotting tool …

Background High plasma HDL cholesterol is associated with reduced risk of myocardial
infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are …

Genome-wide association (GWA) studies have identified multiple loci at which common variants
modestly but reproducibly influence risk of type 2 diabetes (T2D) 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , …