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

BACKGROUND CONTEXT: Disc degeneration (DD) is a multifaceted chronic process that
alters the structure and function of the intervertebral discs and can lead to painful conditions. …

Clinical genetic testing began over 30 years ago with the availability of mutation detection for
sickle cell disease diagnosis. Since then, the field has dramatically transformed to include …

Background Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been
associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) …

To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum,
we conducted a meta-analysis of genome-wide association data from 26,676 T2D case …

The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …

Background Elucidation of the genetic factors underlying chronic liver disease may reveal
new therapeutic targets. Methods We used exome sequence data and electronic health …

INTRODUCTION Large-scale genetic studies of integrated health care populations, with
phenotypic data captured natively in the documentation of clinical care, have the potential to …

Background Higher-than-normal levels of circulating triglycerides are a risk factor for ischemic
cardiovascular disease. Activation of lipoprotein lipase, an enzyme that is inhibited by …

INTRODUCTION Familial hypercholesterolemia (FH) is a public health genomics priority but
remains underdiagnosed and undertreated despite widespread cholesterol screening. This …