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 …
Recurrent genomic rearrangements at 16p11. 2 BP4-5 represent one of the most common causes of genomic disorders. Originally associated with increased risk for autism spectrum …
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 …
EJ Radford, HK Tan, MHL Andersson… - Nature …, 2023 - nature.com
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 …
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 …