*************************************************************** * * * TripleM version 1.0 * * User's Manual * * * *************************************************************** This software uses Partition Ligation strategy together with the EM algorithm to reconstruct haplotypes from unphased genotype data for nuclear family with single child. It also provides estimates on the population haplotype frequencies. The current version can be used on Linux and Windows platforms. 1. Installation on UNIX/LINUX gunzip triplem.linux.gz 2. Input Format The user need to prepare an input file for the genotype data. The format is the same as in Pl-EM. That is, one line for each subject; in each line, each single nucleotide polymorphism (SNP) occupies one space, no white space is allowed between the neighboring loci. Each family is represented by three consecutive lines. The two parents followed by the child. there is no space between families or individuals. For each SNP, by denoting "A" as the wild-type allele, and "a" as the mutant allele. "?" denotes missing. The input formats for different genotype configurations are illustrated below: Heterozygous: A/a --> 0 Homozygous wild type: A/A --> 1 Homozygous mutant: a/a --> 2 missing: ?/? --> 3 3. Command-line Arguments The command for invoking the program is: % plem input output top parSize bufSize round input : the name of the file that contains the genotype information. Any name that is less than 20 characters in length would be acceptable. output : the name of the file that contains the haplotype information. Any name that is less than 20 characters in length would be acceptable. round : the number of independent runs in each of the EM algorithm implementation. This parameter has to be an integer, there is no limit for it and 20 is recommended. 4. Program Output The output file is in plain text format that consists of two parts. In the first part, for each subject in each family, the haplotype pairs predicted by the software is listed, plus the ID number of each haplotype in the haplotype pool of this population. The second part is the summary of the overall haplotype frequency and standard deviation for this population. All haplotypes that appeared in at least one of the subjects are listed. 5. User Supports All questions and comments should be directed to Steve Qin at the Department of Biostatistics, University of Michigan, Ann Arbor, MI 48105. E-mail: qin@umich.edu