eQTL Mapping Using RNA-seq Data

As RNA-seq is replacing gene expression microarrays to assess genome-wide transcription abundance, gene expression Quantitative Trait Locus (eQTL) studies using RNA-seq have emerged. RNA-seq delivers two novel features that are important for eQTL studies. First, it provides information on allele-specific expression (ASE), which is not available from gene expression microarrays. Second, it generates unprecedentedly rich data to study RNA-isoform expression. In this paper, the authors review current methods for eQTL mapping using ASE and discuss some future directions. They also review existing works that use RNA-seq data to study RNA-isoform expression and we discuss the gaps between these works and isoform-specific eQTL mapping.


  • Sun W, Hu Y. (2013) eQTL Mapping Using RNA-seq Data. Stat Biosci 5(1), 198-219. [article]
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