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From expression QTLs to personalized transcriptomics

Nature Reviews Genetics volume 12, pages 277–282 (2011)Cite this article

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Abstract

Approaches that combine expression quantitative trait loci (eQTLs) and genome-wide association (GWA) studies are offering new functional information about the aetiology of complex human traits and diseases. Improved study designs — which take into account technological advances in resolving the transcriptome, cell history and state, population of origin and diverse endophenotypes — are providing insights into the architecture of disease and the landscape of gene regulation in humans. Furthermore, these advances are helping to establish links between cellular effects and organismal traits.

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Figure 1: Gene regulatory architecture through expression quantitative trait locus studies.

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Acknowledgements

We acknowledge funds from the Louis-Jeantet Foundation, the Swiss National Science Foundation and the European Commission and the help and comments of our Functional Population Genomics group in Geneva.

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Authors and Affiliations

  1. Stephen B. Montgomery and Emmanouil T. Dermitzakis are at the Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel-Servet, Geneva 1211, Switzerland. Emmanouil.Dermitzakis@unige.ch; Stephen.Montgomery@unige.ch,

    Stephen B. Montgomery & Emmanouil T. Dermitzakis

  2. Stephen.Montgomery@unige.ch,

    Stephen B. Montgomery & Emmanouil T. Dermitzakis

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Genotype-Tissue Expression (GTEx) Project

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Montgomery, S., Dermitzakis, E. From expression QTLs to personalized transcriptomics. Nat Rev Genet 12, 277–282 (2011). https://doi.org/10.1038/nrg2969

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