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 …

Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density
lipoprotein cholesterol and triglycerides are among the most important risk factors for …

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 …

Blood low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol
and triglyceride levels are risk factors for cardiovascular disease. To dissect the polygenic …

The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …

Background Limited information is available regarding genetic contributions to valvular
calcification, which is an important precursor of clinical valve disease. Methods We determined …

Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in
epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery …

Background : Approximately 7% of American adults have severe hypercholesterolemia (untreated
low-density lipoprotein [LDL] cholesterol ≥190 mg/dl), which may be due to familial …

<p id="p001">We sequenced all protein-coding regions of the genome (the “exome”) in two
family members with combined hypolipidemia, marked by extremely low plasma levels of low…

Myocardial infarction (MI), a leading cause of death around the world, displays a complex
pattern of inheritance 1 , 2 . When MI occurs early in life, genetic inheritance is a major …