Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

The forces of evolution—mutation, selection, migration, and genetic drift—shape the genetic
architecture of human traits, including the genetic architecture of complex neuropsychiatric …

Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of
infertility. It is often considered to be a monogenic disorder, with pathogenic variants in~ 100 …

Extreme phenotype sequencing has led to the identification of high-impact rare genetic
variants for many complex disorders but has not been applied to studies of severe …

Measures of selective constraint on genes have been used for many applications, including
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …

Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in
females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour …

Many rare monogenic diseases are known to be caused by deleterious variants in
thousands of genes, however the same variants can also be found in people without the …

Genome-wide scans for signals of selection have become a routine part of the analysis of
population genomic variation datasets and have resulted in compelling evidence of …

Rare coding variants that substantially affect function provide insights into the biology of a
gene,–. However, ascertaining the frequency of such variants requires large sample sizes …

Sex differences in the fitness effects of genetic variants can influence the rate of adaptation
and the maintenance of genetic variation. For example,“sexually antagonistic”(SA) variants …