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Global properties and functional complexity of human gene regulatory variation.

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.

SUBMITTER: Gaffney DJ

PROVIDER: S-EPMC3667745 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature

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Global properties and functional complexity of human gene regulatory variation.

Gaffney Daniel J DJ

PLoS genetics 20130530 5

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 ...[more]

PMID: 23737752

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