Early genome-wide association studies (GWASs) led to the surprising discovery that, for typical complex traits, most of the heritability is due to huge numbers of common variants …
LJ O'Connor, AL Price - Nature genetics, 2018 - nature.com
Mendelian randomization, a method to infer causal relationships, is confounded by genetic correlations reflecting shared etiology. We developed a model in which a latent causal …
Complex traits and common diseases are extremely polygenic, their heritability spread across thousands of loci. One possible explanation is that thousands of genes and loci have …
Common variant heritability has been widely reported to be concentrated in variants within cell-type-specific non-coding functional annotations, but little is known about low-frequency …
Human genome-wide association studies (GWASs) are revealing the genetic architecture of anthropomorphic and biomedical traits, ie, the frequencies and effect sizes of variants that …
Polygenic risk prediction is a widely investigated topic because of its promising clinical applications. Genetic variants in functional regions of the genome are enriched for complex …
M Mitrovič, NA Patsopoulos, AH Beecham… - Cell, 2018 - cell.com
Multiple sclerosis is a complex neurological disease, with∼ 20% of risk heritability attributable to common genetic variants, including> 230 identified by genome-wide …
SNP-heritability is a fundamental quantity in the study of complex traits. Recent studies have shown that existing methods to estimate genome-wide SNP-heritability can yield biases …
The vast majority of human mutations have minor allele frequencies under 1%, with the plurality observed only once (that is,'singletons'). While Mendelian diseases are …