Genome-wide association studies have identified> 10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …

Although genome-wide association (GWA) studies for common variants have thus far
succeeded in explaining only a modest fraction of the genetic components of human …

Biological and empirical evidence suggests that rare variants account for a large proportion
of the genetic contributions to complex human diseases. Recent technological advances in …

Recent and rapid human population growth has led to an excess of rare genetic variants that
are expected to contribute to an individual's genetic burden of disease risk. To date, much of …

Despite thousands of genetic loci identified to date, a large proportion of genetic variation
predisposing to complex disease and traits remains unaccounted for. Advances in …

INTRODUCTION The human genome contains tens of thousands of rare (minor allele
frequency< 1%) variants, some of which contribute to disease risk. Using 838 samples with …

The allelic architecture of complex traits is likely to be underpinned by a combination of
multiple common frequency and rare variants. Targeted genotyping arrays and next …

Genome-wide association studies (GWASs) have successfully uncovered thousands of
robust associations between common variants and complex traits and diseases. Despite …

Genetic studies have revealed thousands of loci predisposing to hundreds of human
diseases and traits, revealing important biological pathways and defining novel therapeutic …

Gorlov IP, Gorlova OY, Frazier ML, Spitz MR, Amos CI. Evolutionary evidence of the effect of
rare variants on disease etiology. The common disease/common variant hypothesis has …