The contribution of rare and low-frequency variants to human traits is largely unexplored.
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …

The GWAS Central resource gathers and curates extensive summary-level genome-wide
association study (GWAS) data and puts a range of user-friendly but powerful website tools …

Susceptibility to common human diseases is influenced by both genetic and environmental
factors. The explosive growth of genetic data, and the knowledge that it is generating, are …

Molecular quantitative trait loci (xQTLs) are often harnessed to prioritize genes or functional
elements underpinning variant-trait associations identified from genome-wide association …

Rapidly accumulating data from genome-wide association studies (GWASs) and other large-
scale studies are most useful when synthesized with existing databases. To address this …

Genome-wide association studies (GWAS) have provided valuable insights into the genetic
basis of complex traits, discovering> 6000 variants associated with> 500 quantitative traits …

Genetic association mapping produces statistical links between phenotypes and genomic
regions, but identifying causal variants remains difficult. Whole-genome sequencing (WGS) …

Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

Serum biomarker levels are associated with the risk of complex diseases. Here, we aimed to
gain insights into the genetic architecture of biomarker traits which can reflect health status …

Motivation For over a decade, genome-wide association studies (GWAS) have been an
important method for mapping genetic variation underlying complex traits and diseases …