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PLoS Genet. 2013 May;9(5):e1003501. doi: 10.1371/journal.pgen.1003501. Epub 2013 May 30.

Global properties and functional complexity of human gene regulatory variation.

Author information

1
Wellcome Trust Sanger Institute, Cambridge, United Kingdom. dg13@sanger.ac.uk

Abstract

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.

PMID:
23737752
PMCID:
PMC3667745
DOI:
10.1371/journal.pgen.1003501
[Indexed for MEDLINE]
Free PMC Article

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