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expression QTLs

Saturday 16 April 2011

Approaches that combine expression quantitative trait loci (eQTLs) and genome-wide association studies (GWAS) 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.


- From expression QTLs to personalized transcriptomics. Montgomery SB, Dermitzakis ET. Nat Rev Genet. 2011 Apr;12(4):277-82. PMID: 21386863