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 …

Blood concentrations of lipoproteins and lipids are heritable 1 risk factors for cardiovascular
disease 2 , 3 . Using genome-wide association data from three studies (n = 8,816 that …

DNA copy number variation has long been associated with specific chromosomal rearrangements
and genomic disorders, but its ubiquity in mammalian genomes was not fully realized …

The locations and properties of common deletion variants in the human genome are largely
unknown. We describe a systematic method for using dense SNP genotype data to discover …

Background Common single-nucleotide polymorphisms (SNPs) that are associated with blood
low-density lipoprotein (LDL) or high-density lipoprotein (HDL) cholesterol modestly affect …

The central goal of human genetics is to understand the inherited basis of human variation
in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have …

Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs
sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a …

Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity,
large number and modest effect sizes of associated variants on disease risk and the …

The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an
abundant structural, sensory, and signaling filament in muscle) as a common cause of end-…

There has been an explosion of data describing newly recognized structural variants in the
human genome. In the flurry of reporting, there has been no standard approach to collecting …