Epigenomic signatures overlapping disease-associated variants from genome-wide association studies help prioritize new variants in sub-threshold loci whose biological relevance is experimentally confirmed.

A gene-centric functional screen uncovers biological mechanisms underlying genome-wide association study signals for human red blood cell traits.

Genome-wide association studies have established staphylococcal pyomyositis as a disease whose pathogenesis depends critically on expression of a single toxin, Panton–Valentine leukocidin.

Genome wide association analyses in a wild-derived Drosophila melanogaster population uncover extensive variation in cuticular hydrocarbon composition, which may present a target for natural selection and adaptive evolution.

Polygenic selection signals in humans estimated from previously existing GWAS should be viewed with caution due to concerns about residual population stratification.

Susceptibility to uterine fibroids, benign tumors that affect the health of many women, is linked to genes that are responsible for preserving genome integrity and promoting genitourinary development.

Great care is needed when interpreting claims about the genetic basis of human variation based on data from genome-wide association studies.

Genetic predisposition to uterine leiomyomas arises from variation at loci for genetic stability and genitourinary development, and in part explains the frequent occurrence of the condition in women with African origin.

A functional genetic variant, rs1690789, affects susceptibility to emphysema by altering TGFB2 expression in human lung fibroblasts.

Cellular genetics highlights differences in protein catabolism in general, and the COP9 signalosome in particular, as one major source of human cellular circadian variation.