title: An expectation-maximization algorithm for the analysis of allelic expression imbalance.
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.
authors.affiliation: Division of Genomic Medicine, University of Sheffield, United Kingdom.
authors.forename: M D
authors.initials: MD
authors.lastname: Teare
authors.forename: J
authors.initials: J
authors.lastname: Heighway
authors.forename: M F
authors.initials: MF
authors.lastname: Santibáñez Koref
mesh_terms: D000465:Algorithms; D022981:Allelic Imbalance / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D011110:Polymorphism, Genetic