Genetic validation of whole-transcriptome sequencing for mapping expression affected by cis-regulatory variation

摘要

BackgroundIdentifying associations between genotypes and gene expression levels using microarrays has enabled systematic interrogation of regulatory variation underlying complex phenotypes. This approach has vast potential for functional characterization of disease states, but its prohibitive cost, given hundreds to thousands of individual samples from populations have to be genotyped and expression profiled, has limited its widespread application.