Detecting epistasis via Markov bases

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2. Author

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 single nucleotide (SNPs).

Article Content Information
AMS Classification: 
62P10
62F03
92B05
Article Reference Information
Published Year: 
2011
Volume: 
2
Number: 
1
Page Numbers: 
36-53
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