DNA variations in expression quantitative trait loci (eQTLs) alter the expression levels and patterns of many human genes. The resulting variation of gene expression across individuals has been postulated to be a determinant of phenotypic variation and susceptibility to complex disease.
Massively parallel RNA sequencing (RNA-seq) provides unprecedented resolution, allowing us to accurately monitor not only the expression output of each genomic locus but also reconstruct and quantify alternatively spliced transcripts. RNA-seq also provides new insights into the regulatory mechanisms underlying eQTLs.
Here is a discussion of the major advances introduced by RNA-seq and a summary of the current progress towards understanding the role of eQTLs in determining human phenotypic diversity.
Majewski J, Pastinen T. (2010) The study of eQTL variations by RNA-seq: from SNPs to phenotypes. Trends in Genetics [Epub ahead of print]. [abstract]