Caroline Uhler


Software: Detecting epistasis via Markov bases
Our paper "Detecting epistasis via Markov bases" can be found here. Markov bases:
Note: The Markov bases are in R format and the cell entries of the corresponding 3x3x2 tables are reported as vectors in the following order: (n111, n211 , n311, n121, n221, n321, n131, n231, n331, n112, n212 , n312, n122, n222, n322, n132, n232, n332) Code: The code for using the extended version of Fisher's exact test for detecting epistasis can be found here. It runs in R. The code uses the Markov basis of the no 3way interaction model given above. It also takes as input a file named ListOfTables.RDATA consisting of the 3x3x2 data tables. In ListOfTables.RDATA there are 10 chose 2 tables corresponding to all possible pairs of SNPs among the 10 SNPs with the lowest marginal pvalues. The program outputs a table called out consisting of the chisquare statistic of the given data table, its pvalue before Bonferroni correction, and the value 1 for significant and 0 for not significant using a 5% cutoff after Bonferroni correction. We simulated 50 association studies under three models of interaction (control, additive and multiplicative) and for three minor allele frequencies (MAF = 0.1, MAF = 0.25 and MAF = 0.4) using HapSample. The 10 chose 2 tables corresponding to all possible pairs of SNPs among the 10 SNPs with the lowest marginal pvalues can be found in the files below.  For the control model: ListOfTables_control_MAF01.zip, ListOfTables_control_MAF025.zip, ListOfTables_control_MAF04.zip  For the additive
model: ListOfTables_additive_MAF01.zip,
ListOfTables_additive_MAF025.zip, ListOfTables_additive_MAF04.zip  For the
multiplicative model: ListOfTables_multiplicative_MAF01.zip, The true causative
SNPs for each minor allele frequency are given in the
following document: and the 3x3x2 contingency tables for the causative SNPs can be found in the following files for all three models and all three MAFs under consideration.  For the control model: CausativeTable_control_MAF01.zip, CausativeTable_control_MAF025.zip, CausativeTable_control_MAF04.zip  For the additive model: CausativeTable_additive_MAF01.zip, CausativeTable_additive_MAF025.zip, CausativeTable_additive_MAF04.zip  For the multiplicative model: CausativeTable_multiplicative_MAF01.zip, CausativeTable_multiplicative_MAF025.zip, CausativeTable_multiplicative_MAF04.zip
