From expression QTLs to personalized transcriptomics

Nat Rev Genet. 2011 Apr;12(4):277-82. doi: 10.1038/nrg2969. Epub 2011 Mar 9.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Endophenotypes
  • Gene Expression Profiling*
  • Gene Expression Regulation
  • Genome-Wide Association Study
  • Humans
  • Quantitative Trait Loci / genetics*