Detecting epistasis via Markov bases

Malaspinas A, Uhler C. 2011. Detecting epistasis via Markov bases. Journal of Algebraic Statistics. 2(1), 36–53.


Journal Article | Published
Author
Malaspinas, Anna-Sapfo ; Uhler, CarolineIST Austria
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 specic 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 polymorphisms (SNPs).
Publishing Year
Date Published
2011-01-01
Journal Title
Journal of Algebraic Statistics
Acknowledgement
Anna-Sapfo Malaspinas is supported by a Janggen-Poehn Fellowship. Caroline Uhler is supported by an International Fulbright Science and Technology Fellowship.
Volume
2
Issue
1
Page
36 - 53
IST-REx-ID

Cite this

Malaspinas A, Uhler C. Detecting epistasis via Markov bases. Journal of Algebraic Statistics. 2011;2(1):36-53. doi:http://dx.doi.org/10.18409/jas.v2i1.27
Malaspinas, A., & Uhler, C. (2011). Detecting epistasis via Markov bases. Journal of Algebraic Statistics. Public Knowledge Project. http://dx.doi.org/10.18409/jas.v2i1.27
Malaspinas, Anna, and Caroline Uhler. “Detecting Epistasis via Markov Bases.” Journal of Algebraic Statistics. Public Knowledge Project, 2011. http://dx.doi.org/10.18409/jas.v2i1.27.
A. Malaspinas and C. Uhler, “Detecting epistasis via Markov bases,” Journal of Algebraic Statistics, vol. 2, no. 1. Public Knowledge Project, pp. 36–53, 2011.
Malaspinas A, Uhler C. 2011. Detecting epistasis via Markov bases. Journal of Algebraic Statistics. 2(1), 36–53.
Malaspinas, Anna, and Caroline Uhler. “Detecting Epistasis via Markov Bases.” Journal of Algebraic Statistics, vol. 2, no. 1, Public Knowledge Project, 2011, pp. 36–53, doi:http://dx.doi.org/10.18409/jas.v2i1.27.
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