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

Lookup NU author(s): Professor Dawn Teare, Dr Mauro Santibanez Koref


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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. © 2006 by The American Society of Human Genetics. All rights reserved.

Publication metadata

Author(s): Teare MD, Heighway J, Santibanez Koref MF

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2006

Volume: 79

Issue: 3

Pages: 539-543

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1086/506968

PubMed id: 16909391


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