The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association
study of late-onset Alzheimer disease using a three-stage design consisting of a discovery …

Candidate gene and genome-wide association studies (GWAS) have identified genetic variants
that modulate risk for human disease; many of these associations require further study to …

Introduction The eMERGE (electronic MEdical Records and GEnomics) Network is an
NHGRI-supported consortium of five institutions to explore the utility of DNA repositories coupled …

Height is a highly heritable, classic polygenic trait with approximately 700 common associated
variants identified through genome-wide association studies so far. Here, we report 83 …

We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with data …

We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …

Background— Previous studies suggest that erythrocyte membranes from intraplaque
hemorrhage into the necrotic core are a source of free cholesterol and may become a driving force …

The Electronic Medical Records and Genomics Network is a National Human Genome
Research Institute–funded consortium engaged in the development of methods and best …

Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult…

Human HDL-associated paraoxonase (PON1) hydrolyzes a number of toxic organophosphorous
compounds and reduces oxidation of LDLs and HDLs. These properties of PON1 …