The sequencing of the human genome has allowed the study of the genetic architecture of
common diseases: the number of genomic variants that contribute to risk of disease and …

The most common diseases are the toughest to crack. Heart disease, cancer, diabetes,
psychiatric illness: All of these are “complex” or “multifactorial” diseases, meaning that they …

Given the continuing difficulty of identifying genes for complex disorders in a robust,
replicable manner, and the extensive resources devoted to this effort, it is becoming …

We examined 454,712 exomes for genes associated with a wide spectrum of complex traits
and common diseases and observed that rare, penetrant mutations in genes implicated by …

The systematic screening of the human genome for genetic variants that affect gene
regulation should advance our fundamental understanding of phenotypic diversity and lead …

Individual differences in DNA sequence are the genetic basis of human variability. We have
characterized whole-genome patterns of common human DNA variation by genotyping …

Variation within genes has important implications for all biological traits. We identified 3899
single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 …

The extent to which large duplications and deletions contribute to human genetic variation
and diversity is unknown. Here, we show that large-scale copy number polymorphisms …

Identifying the causes of similarities and differences in genetic disease prevalence among
humans is central to understanding disease etiology. While present-day humans are not …

Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the
human genome, and they provide powerful tools for a variety of medical genetic studies. In a …