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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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.
The authors declare no competing financial interests.
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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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