Journal Article


Elizabeth Heron


Medicine & Nursing

genes society genetic molecular epidemiology parent of origin effects statistical genetics binary data maternal genetic effects mother offspring genotype interactions this review genome wide association studies

Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits. (2014)

Abstract 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.
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Full list of authors on original publication

Elizabeth Heron

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Elizabeth Heron
Trinity College Dublin
Total Publications: 15