Department of Biostatistics, University of North Carolina, Chapel Hill, NC 27599, USA.
Pharmacogenomics. 2012 Feb;13(3):343-52. doi: 10.2217/pgs.11.185.
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.
表达数量性状基因座 (eQTL) 分析正在从基因组学的前沿概念迅速发展成为一个成熟的研究领域，与人类疾病的全基因组关联研究、药物基因组学和毒理基因组学有重要联系。尽管这个主题很重要，但许多研究人员必须开发自己的代码或使用不专门用于 eQTL 分析的工具。方便的计算工具正在变得可用，但它们并没有广泛宣传，并且对发现或 eQTL 感兴趣的研究人员，或者对使用它们来解释全基因组关联研究结果感兴趣的研究人员，可能难以找到可用的资源。本文的目的是帮助研究人员找到用于 eQTL 分析和解释的合适程序。
