Program: cnvhmm (copy number analysis using hidden markov algorithm) Version: 1.0.1 Author: Ken Chen & Xiaoqi Shi Usage: cnvhmm [options] Key commands: cnsdepth create depth file hmm run HMM analysis =========================================================================== Usage: cnvhmm cnsdepth [options] cnsfile outputfile Optional Arguments: -y STRING assign marker file[defaul=NULL] -q INT map quality cutoff[defaul=40] -w INT window size[defaul=1000] -b INT mininum position[defaul=1] -e DOUBLE maximus position[defaul=1000000000000] -m INT GC window size[defaul=1000] -c FLOAT GC cutoff[defaul=0.5] =========================================================================== Usage: cnvhmm hmm [options] [cnsfile] [infile] Optional Arguments: -i if present program will use file created from cnsdepth as input[infile], otherwise take marker[markerfile] and cns[cnsfile] file as inputs parameters for depth&GC data preparation: -y STRING assign marker file[defaul=NULL] -d STRING create and write out depth file from marker and cns file -o STRING results file(states and region information) -q INT map quality cutoff[defaul=40] -w INT window size[defaul=1000] -b INT mininum position[defaul=1] -e DOUBLE maximus position[defaul=999999999] -m INT GC window size[defaul=1000] -c FLOAT GC cutoff[defaul=0.5] parameters for HMM process: -a STRING HMM algorithm [defaul='viterbi'] -n INT max copy number[defaul=3] -f INT median filter size[defaul=3] -g INT GC correction 1:apply 0:not apply[defaul=1] -t INT transition probability 1:update 0:not update[defaul=0] -r DOUBLE cnv rate[defaul=0.001] -s DOUBLE nv size[defaul=0.1] -k INT minimum number of markers[defaul=5] -x INT The maximum # of bases a cnv can extend without evidence[defaul=450000] -l DOUBLE Log Likelihood Ratio Cut off[defaul=10]