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Pharmacogenomics. 2012 Feb;13(3):343-52. doi: 10.2217/pgs.11.185.

Computational tools for discovery and interpretation of expression quantitative trait loci.

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  • 1Department of Biostatistics, University of North Carolina, Chapel Hill, NC 27599, USA.


Expression quantitative trait locus (eQTL) analysis is rapidly moving from a cutting-edge concept in genomics to a mature area of investigation, with important connections to genome-wide association studies for human disease, pharmacogenomics and toxicogenomics. Despite the importance of the topic, many investigators must develop their own code or use tools not specifically suited for eQTL analysis. Convenient computational tools are becoming available, but they are not widely publicized, and investigators who are interested in discovery or eQTL, or in using them to interpret genome-wide association study results may have difficulty navigating the available resources. The purpose of this review is to help investigators find appropriate programs for eQTL analysis and interpretation.

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