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arXiv · 1006.4929

Detecting epistasis via Markov bases

Anna-Sapfo Malaspinas·Caroline Uhler
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Abstract

Rapid research progress in genotyping techniques have allowed large genome-wide association studies. Existing methods often focus on determining associations between single loci and a specific phenotype. However, a particular phenotype is usually the result of complex relationships between multiple loci and the environment. In this paper, we describe a two-stage method for detecting epistasis by combining the traditionally used single-locus search with a search for multiway interactions. Our method is based on an extended version of Fisher's exact test. To perform this test, a Markov chain is constructed on the space of multidimensional contingency tables using the elements of a Markov basis as moves. We test our method on simulated data and compare it to a two-stage logistic regression method and to a fully Bayesian method, showing that we are able to detect the interacting loci when other methods fail to do so. Finally, we apply our method to a genome-wide data set consisting of 685 dogs and identify epistasis associated with canine hair length for four pairs of SNPs.

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Anna-Sapfo Malaspinas, Caroline Uhler. 2010-06-25. Detecting epistasis via Markov bases. https://arxiv.org/abs/1006.4929

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