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.
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 comprehensive genome scan of 18,000 multi-ethnic individuals with 3-dimensional facial images highlighted multiple face-associated genetic loci for which regulatory activities in human neural cells were established.
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.
Human pancreatic islet high-resolution chromatin state maps generated from DNA methylation, open chromatin and ChIP-seq mark data facilitate the characterisation of regulatory mechanisms at type 2 diabetes genome-wide association study loci.