Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits.
Item Type:Journal Article
Citation:Connolly, S and Heron, E.A., Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits., Briefings in Bioinformatics, 2014
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The detection of parent-of-origin effects aims to identify whether the functionality of alleles, and in turn associated phenotypic traits, depends on the parental origin of the alleles. Different parent-of-origin effects have been identified through a variety of mechanisms and a number of statistical methodologies for their detection have been proposed, in particular for genome-wide association studies (GWAS). GWAS have had limited success in explaining the heritability of many complex disorders and traits, but successful identification of parent-of-origin effects using trio (mother, father and offspring) GWAS may help shed light on this missing heritability. However, it is important to choose the most appropriate parent-of-origin test or methodology, given knowledge of the phenotype, amount of available data and the type of parent-of-origin effect(s) being considered. This review brings together the parent-of-origin detection methodologies available, comparing them in terms of power and type I error for a number of different simulated data scenarios, and finally offering guidance as to the most appropriate choice for the different scenarios.
Author: HERON, ELIZABETH
Type of material:Journal Article
Series/Report no:Briefings in Bioinformatics
Availability:Full text available
Keywords:Genome-wide association studies imprinting maternal genetic effects mother/offspring genotype interactions