An expectation-maximization algorithm for the analysis of allelic expression imbalance

Am J Hum Genet. 2006 Sep;79(3):539-43. doi: 10.1086/506968. Epub 2006 Jun 30.

Abstract

A significant proportion of the variation between individuals in gene expression levels is genetic, and it is likely that these differences correlate with phenotypic differences or with risk of disease. Cis-acting polymorphisms are important in determining interindividual differences in gene expression that lead to allelic expression imbalance, which is the unequal expression of homologous alleles in individuals heterozygous for such a polymorphism. This expression imbalance can be detected using a transcribed polymorphism, and, once it is established, the next step is to identify the polymorphisms that are responsible for or predictive of allelic expression levels. We present an expectation-maximization algorithm for such analyses, providing a formal statistical framework to test whether a candidate polymorphism is associated with allelic expression differences.

MeSH terms

  • Algorithms*
  • Allelic Imbalance / genetics*
  • Gene Expression*
  • Humans
  • Polymorphism, Genetic*