Global Properties and Functional Complexity of Human Gene Regulatory Variation

Identification and functional interpretation of gene regulatory variants is a major focus of modern genomics. the application of genetic mapping to molecular and cellular traits has enabled the detection of regulatory variation on genome-wide scales and revealed an enormous diversity of regulatory architecture in humans and other species. in this review i summarise the insights gained and questions raised by a decade of genetic mapping of gene expression variation. i discuss recent extensions of this approach using alternative molecular phenotypes that have revealed some of the biological mechanisms that drive gene expression variation between individuals. finally,i highlight outstanding problems and future directions for development. © 2013 daniel j.