===================== INSTRUCTIONS ============================== This document contains the instructions for installing and using the MCPDTI package in R. Note: please install and use the package under the R (version 3.1.2) environment with 32-bit, otherwise R may report errors and the package cannot work. The MCPDTI package will use the R package "mvtnorm". Therefore, make sure that this package has been installed and loaded into R. 1. Install For Windows users, connect the computer to the internet and then run the following command in R: >install.packages(pkgs="mvtnorm") After that, choose a CRAN mirror to download and install the R package "mvtnorm". Next, download the compiled R packages file for Windows "MCPDTI_1.0.zip". Then, use the following command in R to install the package >install.packages(pkgs="MCPDTI_1.0.zip",repos=NULL) 2. Use Use >library(mvtnorm) >library(MCPDTI) to load these two packages into R. Use >?MCPDTI to read the instructions. 3. Example Download the sample pedigree file "ped.txt". Then use > MCPDTI("ped.txt", mcsize=50, loci = NULL, header = T, af = NULL, alphaI=0.05) $Tstat MCPDTI MCPDT PDT MCPPAT PPAT SNP1_1 -1.087339 -1.087339 -1.087339 0.6546537 0.6546537 SNP2_1 4.602723 3.872219 3.165869 4.5565627 2.6111648 $pvalue MCPDTI MCPDT PDT MCPPAT PPAT SNP1_1 2.809010e-01 0.2768871145 0.276887115 5.126908e-01 0.512690760 SNP2_1 3.839121e-06 0.0001078491 0.001546203 5.199753e-06 0.009023439 Note 1. The function outputs the statistics and P-values of MCPDTI, MCPDT, PDT, MCPPAT and PPAT. MCPDTI, MCPDT and MCPPAT are calculated based on the Monte Carlo sampling and estimation. Note 2. The the statistics and P-values of MCPDTI, MCPDT and MCPPAT may be different for different runs, because of the Monte Carlo sampling. Note 3. If af (allele frequency) is unknown (af=NULL), it will be estimated based on all the typed founders. 4. Arguments ped The name of a standard linkage pedigree file or a matrix/dataframe containing pedigree relationship, genotype, and phenotype information, one row for each individual. The first 5 columns give the pedigree id, individual id, father id (0 if founder), mother id (0 if founder), and sex (1=male, 2=female), in that order. Note that these fields need to be numeric. The sixth column gives the affection status (1=unaffected; 2=affected; 0=unknown). The remaining columns code for marker genotypes (2 column per SNP), with the two alleles for each marker represented by two consecutive numbers (0=missing). mcsize The Monte Carlo sample size. It can take any positive integer. loci The name of a standard linkage loci file. header The header of input data. If header=TRUE, then the names of SNPs will be used as row names of the output results. af Dataframe/matrix of marker allele frequencies, one column for each marker locus. If af=NULL, then it will be estimated from typed founders. alphaI The significance level for imprinting test of MCPPAT. 5. References Ji-Yuan Zhou, Hai-Qiang He, Xiao-Ping You, Shao-Zhan Li, Ping-Yan Chen, Wing Kam Fung. 2014 A powerful association test for qualitative traits incorporating imprinting effects using general pedigree data. Journal of Human Genetics (accpeted). Jie Ding, Shili Lin, Yang Liu. 2006 Monte Carlo pedigree disequilibrium test for markers on X chromosome. American Journal of Human Genetics, 79, 567-573. Eden R. Martin, Stephanie A. Monks, Liling L. Warren, Norman L. Kaplan. 2000 A test for linkage and association in general pedigrees: the pedigree disequilibrium test. American Journal of Human Genetics, 67, 146-154. Ji-Yuan Zhou, Jie Ding, Wing K. Fung, Shili Lin. 2010 Detection of parent-of-origin effects using general pedigree data. Genetic Epidemiology, 34, 151-158. ----------------------------------------------------------------- If you have any questions, please email Dr. Ji-Yuan Zhou at zhoujiyuan@gmail.com