Single cell expression quantitative trait loci and complex traits

Genome Med. 2013 Aug 20;5(8):72. doi: 10.1186/gm476. eCollection 2013.

Abstract

The recently developed ability to quantify mRNA abundance and noise in single cells has allowed the effect of heritable variations on gene function to be re-evaluated. A recent study has shown that major sources of variation are masked when gene expression is averaged over many cells. Heritable variations that determine single-cell expression phenotypes may exert a regulatory function in specific cellular processes underlying disease. Masked effects on gene expression should therefore be modeled, not ignored.