annotate defuse.xml @ 10:08e9244aeab8

Change dependency for kent (blat faToTwoBit) to latest since versions not available at UCSC
author Jim Johnson <jj@umn.edu>
date Thu, 06 Jun 2013 07:36:16 -0500
parents 06675bd664ee
children 33e2235bf003
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1 <tool id="defuse" name="DeFuse" version="1.6.1">
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2 <description>identify fusion transcripts</description>
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3 <requirements>
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4 <requirement type="package" version="0.6.1">defuse</requirement>
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5545ec69acbd Defuse version 0.6.0
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5 <requirement type="package" version="0.1.18">samtools</requirement>
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6 <requirement type="package" version="1.0.0">bowtie</requirement>
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7 <requirement type="package" version="2013-05-09">gmap</requirement>
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8 <requirement type="package" version="latest">kent</requirement>
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9 </requirements>
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10 <command interpreter="command"> /bin/bash $shscript </command>
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11 <inputs>
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12 <param name="left_pairendreads" type="data" format="fastq" label="left part of read pairs" help="The left and right reads pairs must be in the same order, and not have any unpaired reads. (FASTQ interlacer will pair reads and remove the unpaired. FASTQ de-interlacer will separate the result into left and right reads.)"/>
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13 <param name="right_pairendreads" type="data" format="fastq" label="right part of read pairs" help="In the same order as the left reads"/>
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14 <conditional name="refGenomeSource">
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15 <param name="genomeSource" type="select" label="Will you select a built-in DeFuse Reference Dataset, or supply a configuration from your history" help="">
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16 <option value="indexed">Use a built-in DeFuse Reference Dataset</option>
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17 <option value="history">Use a configuration from your history that specifies the DeFuse Reference Dataset</option>
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18 </param>
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19 <when value="indexed">
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20 <param name="index" type="select" label="Select a Reference Dataset" help="if your genome of interest is not listed - contact Galaxy team">
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21 <options from_file="defuse.loc">
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22 <column name="name" index="1"/>
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23 <column name="value" index="2"/>
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24 <filter type="sort_by" column="0" />
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25 <validator type="no_options" message="No indexes are available" />
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26 </options>
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27 </param>
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28 <conditional name="defuse_param">
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29 <param name="settings" type="select" label="Defuse parameter settings" help="">
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30 <option value="preSet">Default settings</option>
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31 <option value="full">Full parameter list</option>
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32 </param>
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33 <when value="preSet" />
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34 <when value="full">
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35 <param name="max_insert_size" type="integer" value="500" optional="true" label="Bowtie max_insert_size" />
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36 <param name="dna_concordant_length" type="integer" value="2000" optional="true" label="Minimum gene fusion range dna_concordant_length" />
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37 <param name="discord_read_trim" type="integer" value="50" optional="true" label="Trim length for discordant reads discord_read_trim" help="(split reads are not trimmed)" />
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38 <param name="clustering_precision" type="float" value=".95" optional="true" label="Filter clustering_precision">
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39 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/>
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40 </param>
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41 <param name="span_count_threshold" type="integer" value="5" optional="true" label="Filter span_count_threshold" />
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42 <param name="split_count_threshold" type="integer" value="3" optional="true" label="Filter split_count_threshold" />
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43 <param name="percent_identity_threshold" type="float" value=".90" optional="true" label="Filter percent_identity_threshold">
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44 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/>
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45 </param>
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46 <param name="max_dist_pos" type="integer" value="600" optional="true" label="Filter max_dist_pos" />
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47 <param name="num_dist_genes" type="integer" value="500" optional="true" label="Filter num_dist_genes" />
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48 <param name="split_min_anchor" type="integer" value="4" optional="true" label="Filter split_min_anchor" />
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49 <param name="max_concordant_ratio" type="float" value="0.1" optional="true" label="Filter max_concordant_ratio">
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50 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/>
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51 </param>
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52 <param name="splice_bias" type="integer" value="10" optional="true" label="Filter splice_bias" />
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53 <param name="probability_threshold" type="float" value="0.50" optional="true" label="Filter probability_threshold">
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54 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/>
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55 </param>
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56 <param name="covariance_sampling_density" type="float" value="0.01" optional="true" label="covariance_sampling_density">
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57 <help>Position density when calculating covariance</help>
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58 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/>
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59 </param>
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60 <param name="denovo_assembly" type="select" label="denovo_assembly" help="">
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61 <option value="">Use Default</option>
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62 <option value="no">no</option>
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63 <option value="yes">yes</option>
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64 </param>
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65 <!--
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66 <param name="positive_controls" type="data" format="txt" optional=true label="Defuse positive_controls" help=""/>
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67 -->
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68 </when> <!-- full -->
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69 </conditional> <!-- defuse_param -->
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70 </when>
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71 <when value="history">
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72 <param name="config" type="data" format="txt" label="Defuse Config file" help=""/>
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73 </when> <!-- history -->
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74 </conditional> <!-- refGenomeSource -->
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75 <param name="keep_output" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Save DeFuse working directory files"
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76 help="The defuse output working directory can be helpful for determining errors that may have occurred during the run,
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77 but they require considerable diskspace, and should be deleted and purged when no longer needed."/>
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78 <param name="do_get_reads" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Run get_reads on each cluster"/>
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79 </inputs>
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80 <outputs>
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81 <data format="txt" name="config_txt" label="${tool.name} on ${on_string}: config.txt"/>
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82 <data format="txt" name="defuse_log" label="${tool.name} on ${on_string}: defuse.log" />
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83 <data format="html" name="defuse_out" label="${tool.name} on ${on_string}: defuse_output (purge when no longer needed)">
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84 <filter>keep_output == True</filter>
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85 </data>
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86 <data format="tabular" name="results_tsv" label="${tool.name} on ${on_string}: results.tsv" />
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87 <data format="tabular" name="results_classify_tsv" label="${tool.name} on ${on_string}: results.classify.tsv" />
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88 <data format="tabular" name="results_filtered_tsv" label="${tool.name} on ${on_string}: results.filtered.tsv" />
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89 <data format="html" name="fusion_reads" label="${tool.name} on ${on_string}: fusion_reads">
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90 <filter>do_get_reads == True</filter>
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91 </data>
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92 </outputs>
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93 <configfiles>
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94 <configfile name="defuse_config">
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95 #import ast
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96 #if $refGenomeSource.genomeSource == "history":
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97 #include raw $refGenomeSource.config.__str__
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98 #else
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99 #set $ref_dict = dict($ast.literal_eval($refGenomeSource.index.value))
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100 #
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101 # Configuration file for defuse
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102 #
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103 # At a minimum, change all values enclused by []
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104 #
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105
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106 # Directory where the defuse code was unpacked
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107 ## Default location in the tool/defuse directory
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108 # source_directory = ${__root_dir__}/tools/defuse
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109 source_directory = #slurp
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110 #try
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111 $ref_dict['source_directory']
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112 #except
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113 __DEFUSE_PATH__
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114 #end try
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115
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116 # Directory where you want your dataset
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117 dataset_directory = #slurp
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118 #try
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119 $ref_dict['dataset_directory']
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120 #except
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121 /project/db/genomes/Hsapiens/hg19/defuse
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122 #end try
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123
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124 # Input genome and gene models
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125 gene_models = #slurp
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126 #try
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127 $ref_dict['gene_models']
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128 #except
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129 \$(dataset_directory)/Homo_sapiens.GRCh37.62.gtf
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130 #end try
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131 genome_fasta = #slurp
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132 #try
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133 $ref_dict['genome_fasta']
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134 #except
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135 \$(dataset_directory)/Homo_sapiens.GRCh37.62.dna.chromosome.fa
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136 #end try
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137
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138 # Repeat table from ucsc genome browser
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139 repeats_filename = #slurp
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140 #try
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141 $ref_dict['repeats_filename']
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142 #except
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143 \$(dataset_directory)/rmsk.txt
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144 #end try
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145
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146 # EST info downloaded from ucsc genome browser
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147 est_fasta = #slurp
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148 #try
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149 $ref_dict['est_fasta']
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150 #except
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151 \$(dataset_directory)/est.fa
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152 #end try
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153 est_alignments = #slurp
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154 #try
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155 $ref_dict['est_alignments']
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156 #except
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157 \$(dataset_directory)/intronEst.txt
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158 #end try
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159
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160 # Unigene clusters downloaded from ncbi
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161 unigene_fasta = #slurp
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162 #try
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163 $ref_dict['unigene_fasta']
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164 #except
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165 \$(dataset_directory)/Hs.seq.uniq
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166 #end try
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167
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168 # Paths to external tools
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169 bowtie_bin = #slurp
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170 #try
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171 $ref_dict['bowtie_bin']
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172 #except
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173 __BOWTIE_BIN__
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174 #end try
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175 bowtie_build_bin = #slurp
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176 #try
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177 $ref_dict['bowtie_build_bin']
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178 #except
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179 __BOWTIE_BUILD_BIN__
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180 #end try
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181 blat_bin = #slurp
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182 #try
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183 $ref_dict['blat_bin']
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184 #except
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185 __BLAT_BIN__
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186 #end try
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187 fatotwobit_bin = #slurp
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188 #try
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189 $ref_dict['fatotwobit_bin']
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190 #except
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191 __FATOTWOBIT_BIN__
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192 #end try
7
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parents: 6
diff changeset
193 gmap_bin = #slurp
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parents: 6
diff changeset
194 #try
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Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
195 $ref_dict['gmap_bin']
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Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
196 #except
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
197 __GMAP_BIN__
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Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
198 #end try
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Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
199 gmap_bin = #slurp
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
200 #try
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
201 $ref_dict['gmap_bin']
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
202 #except
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
203 __GMAP_BIN__
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
204 #end try
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
205 gmap_setup_bin = #slurp
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Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
206 #try
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
207 $ref_dict['gmap_setup_bin']
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Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
208 #except
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
209 __GMAP_SETUP_BIN__
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Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
210 #end try
0
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parents:
diff changeset
211 r_bin = #slurp
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jjohnson
parents:
diff changeset
212 #try
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jjohnson
parents:
diff changeset
213 $ref_dict['r_bin']
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jjohnson
parents:
diff changeset
214 #except
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jjohnson
parents:
diff changeset
215 __R_BIN__
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jjohnson
parents:
diff changeset
216 #end try
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jjohnson
parents:
diff changeset
217 rscript_bin = #slurp
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jjohnson
parents:
diff changeset
218 #try
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jjohnson
parents:
diff changeset
219 $ref_dict['rscript_bin']
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jjohnson
parents:
diff changeset
220 #except
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jjohnson
parents:
diff changeset
221 __RSCRIPT_BIN__
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jjohnson
parents:
diff changeset
222 #end try
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jjohnson
parents:
diff changeset
223
7
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parents: 6
diff changeset
224 # Directory where you want your dataset
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parents: 6
diff changeset
225 gmap_index_directory = #slurp
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parents: 6
diff changeset
226 #try
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parents: 6
diff changeset
227 $ref_dict['gmap_index_directory']
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Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
228 #except
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
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parents: 6
diff changeset
229 \$(dataset_directory)/gmap
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parents: 6
diff changeset
230 #end try
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parents: 6
diff changeset
231
0
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parents:
diff changeset
232 #raw
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jjohnson
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233 # Dataset files
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jjohnson
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diff changeset
234 dataset_prefix = $(dataset_directory)/defuse
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jjohnson
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diff changeset
235 chromosome_prefix = $(dataset_prefix).dna.chromosomes
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jjohnson
parents:
diff changeset
236 exons_fasta = $(dataset_prefix).exons.fa
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jjohnson
parents:
diff changeset
237 cds_fasta = $(dataset_prefix).cds.fa
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jjohnson
parents:
diff changeset
238 cdna_regions = $(dataset_prefix).cdna.regions
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jjohnson
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diff changeset
239 cdna_fasta = $(dataset_prefix).cdna.fa
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jjohnson
parents:
diff changeset
240 reference_fasta = $(dataset_prefix).reference.fa
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jjohnson
parents:
diff changeset
241 rrna_fasta = $(dataset_prefix).rrna.fa
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jjohnson
parents:
diff changeset
242 ig_gene_list = $(dataset_prefix).ig.gene.list
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jjohnson
parents:
diff changeset
243 repeats_regions = $(dataset_directory)/repeats.regions
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jjohnson
parents:
diff changeset
244 est_split_fasta1 = $(dataset_directory)/est.1.fa
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jjohnson
parents:
diff changeset
245 est_split_fasta2 = $(dataset_directory)/est.2.fa
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jjohnson
parents:
diff changeset
246 est_split_fasta3 = $(dataset_directory)/est.3.fa
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jjohnson
parents:
diff changeset
247 est_split_fasta4 = $(dataset_directory)/est.4.fa
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jjohnson
parents:
diff changeset
248 est_split_fasta5 = $(dataset_directory)/est.5.fa
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jjohnson
parents:
diff changeset
249 est_split_fasta6 = $(dataset_directory)/est.6.fa
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jjohnson
parents:
diff changeset
250 est_split_fasta7 = $(dataset_directory)/est.7.fa
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jjohnson
parents:
diff changeset
251 est_split_fasta8 = $(dataset_directory)/est.8.fa
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jjohnson
parents:
diff changeset
252 est_split_fasta9 = $(dataset_directory)/est.9.fa
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jjohnson
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diff changeset
253
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jjohnson
parents:
diff changeset
254 # Fasta files with bowtie indices for prefiltering reads for concordantly mapping pairs
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jjohnson
parents:
diff changeset
255 prefilter1 = $(unigene_fasta)
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jjohnson
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diff changeset
256
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jjohnson
parents:
diff changeset
257 # deFuse scripts and tools
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jjohnson
parents:
diff changeset
258 scripts_directory = $(source_directory)/scripts
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jjohnson
parents:
diff changeset
259 tools_directory = $(source_directory)/tools
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jjohnson
parents:
diff changeset
260 data_directory = $(source_directory)/data
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jjohnson
parents:
diff changeset
261 #end raw
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jjohnson
parents:
diff changeset
262
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jjohnson
parents:
diff changeset
263 # Path to samtools, 0.1.8 is compiled for you, use other versions at your own risk
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jjohnson
parents:
diff changeset
264 samtools_bin = #slurp
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jjohnson
parents:
diff changeset
265 #try
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jjohnson
parents:
diff changeset
266 $ref_dict['samtools_bin']
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jjohnson
parents:
diff changeset
267 #except
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jjohnson
parents:
diff changeset
268 \$(source_directory)/external/samtools-0.1.8/samtools
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jjohnson
parents:
diff changeset
269 #end try
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jjohnson
parents:
diff changeset
270
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jjohnson
parents:
diff changeset
271 # Bowtie parameters
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jjohnson
parents:
diff changeset
272 bowtie_threads = #slurp
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jjohnson
parents:
diff changeset
273 #try
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jjohnson
parents:
diff changeset
274 $ref_dict['bowtie_threads']
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jjohnson
parents:
diff changeset
275 #except
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jjohnson
parents:
diff changeset
276 4
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jjohnson
parents:
diff changeset
277 #end try
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jjohnson
parents:
diff changeset
278 bowtie_quals = #slurp
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jjohnson
parents:
diff changeset
279 #try
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jjohnson
parents:
diff changeset
280 $ref_dict['bowtie_quals']
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jjohnson
parents:
diff changeset
281 #except
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jjohnson
parents:
diff changeset
282 --phred33-quals
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jjohnson
parents:
diff changeset
283 #end try
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jjohnson
parents:
diff changeset
284 max_insert_size = #slurp
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jjohnson
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diff changeset
285 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_insert_size.__str__ != "":
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jjohnson
parents:
diff changeset
286 $refGenomeSource.defuse_param.max_insert_size
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jjohnson
parents:
diff changeset
287 #else
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jjohnson
parents:
diff changeset
288 #try
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jjohnson
parents:
diff changeset
289 $ref_dict['max_insert_size']
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jjohnson
parents:
diff changeset
290 #except
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jjohnson
parents:
diff changeset
291 500
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jjohnson
parents:
diff changeset
292 #end try
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jjohnson
parents:
diff changeset
293 #end if
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jjohnson
parents:
diff changeset
294
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jjohnson
parents:
diff changeset
295 # Parameters for building the dataset
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jjohnson
parents:
diff changeset
296 chromosomes = #slurp
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jjohnson
parents:
diff changeset
297 #try
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jjohnson
parents:
diff changeset
298 $ref_dict.chromosomes
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jjohnson
parents:
diff changeset
299 #except
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jjohnson
parents:
diff changeset
300 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,X,Y,MT
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jjohnson
parents:
diff changeset
301 #end try
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jjohnson
parents:
diff changeset
302 mt_chromosome = #slurp
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jjohnson
parents:
diff changeset
303 #try
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jjohnson
parents:
diff changeset
304 $ref_dict['mt_chromosome']
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jjohnson
parents:
diff changeset
305 #except
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jjohnson
parents:
diff changeset
306 MT
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jjohnson
parents:
diff changeset
307 #end try
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jjohnson
parents:
diff changeset
308 gene_sources = #slurp
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jjohnson
parents:
diff changeset
309 #try
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jjohnson
parents:
diff changeset
310 $ref_dict['gene_sources']
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jjohnson
parents:
diff changeset
311 #except
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jjohnson
parents:
diff changeset
312 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding
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jjohnson
parents:
diff changeset
313 #end try
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jjohnson
parents:
diff changeset
314 ig_gene_sources = #slurp
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jjohnson
parents:
diff changeset
315 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
316 $ref_dict['ig_gene_sources']
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jjohnson
parents:
diff changeset
317 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
318 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene
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jjohnson
parents:
diff changeset
319 #end try
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jjohnson
parents:
diff changeset
320 rrna_gene_sources = #slurp
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jjohnson
parents:
diff changeset
321 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
322 $ref_dict['rrna_gene_sources']
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jjohnson
parents:
diff changeset
323 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
324 Mt_rRNA,rRNA,rRNA_pseudogene
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jjohnson
parents:
diff changeset
325 #end try
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jjohnson
parents:
diff changeset
326
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jjohnson
parents:
diff changeset
327 # Blat sequences per job
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jjohnson
parents:
diff changeset
328 num_blat_sequences = #slurp
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jjohnson
parents:
diff changeset
329 #try
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jjohnson
parents:
diff changeset
330 $ref_dict['num_blat_sequences']
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jjohnson
parents:
diff changeset
331 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
332 10000
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jjohnson
parents:
diff changeset
333 #end try
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jjohnson
parents:
diff changeset
334
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jjohnson
parents:
diff changeset
335 # Minimum gene fusion range
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jjohnson
parents:
diff changeset
336 dna_concordant_length = #slurp
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jjohnson
parents:
diff changeset
337 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.dna_concordant_length.__str__ != "":
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jjohnson
parents:
diff changeset
338 $refGenomeSource.defuse_param.dna_concordant_length
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
339 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
340 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
341 $ref_dict['dna_concordant_length']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
342 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
343 2000
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jjohnson
parents:
diff changeset
344 #end try
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jjohnson
parents:
diff changeset
345 #end if
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jjohnson
parents:
diff changeset
346
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jjohnson
parents:
diff changeset
347 # Trim length for discordant reads (split reads are not trimmed)
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jjohnson
parents:
diff changeset
348 discord_read_trim = #slurp
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jjohnson
parents:
diff changeset
349 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.discord_read_trim.__str__ != "":
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jjohnson
parents:
diff changeset
350 $refGenomeSource.defuse_param.discord_read_trim
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jjohnson
parents:
diff changeset
351 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
352 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
353 $ref_dict['discord_read_trim']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
354 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
355 50
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jjohnson
parents:
diff changeset
356 #end try
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jjohnson
parents:
diff changeset
357 #end if
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jjohnson
parents:
diff changeset
358
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jjohnson
parents:
diff changeset
359 # Filtering parameters
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jjohnson
parents:
diff changeset
360 clustering_precision = #slurp
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jjohnson
parents:
diff changeset
361 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.clustering_precision.__str__ != ""
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jjohnson
parents:
diff changeset
362 $refGenomeSource.defuse_param.clustering_precision
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
363 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
364 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
365 $ref_dict['clustering_precision']
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jjohnson
parents:
diff changeset
366 #except
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jjohnson
parents:
diff changeset
367 0.95
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jjohnson
parents:
diff changeset
368 #end try
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jjohnson
parents:
diff changeset
369 #end if
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jjohnson
parents:
diff changeset
370 span_count_threshold = #slurp
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jjohnson
parents:
diff changeset
371 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.span_count_threshold.__str__ != ""
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jjohnson
parents:
diff changeset
372 $refGenomeSource.defuse_param.span_count_threshold
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jjohnson
parents:
diff changeset
373 #else
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jjohnson
parents:
diff changeset
374 #try
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jjohnson
parents:
diff changeset
375 $ref_dict['span_count_threshold']
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jjohnson
parents:
diff changeset
376 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
377 5
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jjohnson
parents:
diff changeset
378 #end try
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jjohnson
parents:
diff changeset
379 #end if
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jjohnson
parents:
diff changeset
380 split_count_threshold = #slurp
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jjohnson
parents:
diff changeset
381 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.split_count_threshold.__str__ != ""
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jjohnson
parents:
diff changeset
382 $refGenomeSource.defuse_param.split_count_threshold
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jjohnson
parents:
diff changeset
383 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
384 #try
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jjohnson
parents:
diff changeset
385 $ref_dict['split_count_threshold']
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jjohnson
parents:
diff changeset
386 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
387 3
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jjohnson
parents:
diff changeset
388 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
389 #end if
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jjohnson
parents:
diff changeset
390 percent_identity_threshold = #slurp
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jjohnson
parents:
diff changeset
391 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.percent_identity_threshold.__str__ != ""
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
392 $refGenomeSource.defuse_param.percent_identity_threshold
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jjohnson
parents:
diff changeset
393 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
394 #try
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jjohnson
parents:
diff changeset
395 $ref_dict['percent_identity_threshold']
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jjohnson
parents:
diff changeset
396 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
397 0.90
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jjohnson
parents:
diff changeset
398 #end try
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jjohnson
parents:
diff changeset
399 #end if
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jjohnson
parents:
diff changeset
400 max_dist_pos = #slurp
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jjohnson
parents:
diff changeset
401 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_dist_pos.__str__ != ""
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jjohnson
parents:
diff changeset
402 $refGenomeSource.defuse_param.max_dist_pos
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
403 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
404 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
405 $ref_dict['max_dist_pos']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
406 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
407 600
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
408 #end try
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jjohnson
parents:
diff changeset
409 #end if
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jjohnson
parents:
diff changeset
410 num_dist_genes = #slurp
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jjohnson
parents:
diff changeset
411 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.num_dist_genes.__str__ != ""
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jjohnson
parents:
diff changeset
412 $refGenomeSource.defuse_param.num_dist_genes
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
413 #else
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jjohnson
parents:
diff changeset
414 #try
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jjohnson
parents:
diff changeset
415 $ref_dict['num_dist_genes']
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jjohnson
parents:
diff changeset
416 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
417 500
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jjohnson
parents:
diff changeset
418 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
419 #end if
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jjohnson
parents:
diff changeset
420 split_min_anchor = #slurp
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jjohnson
parents:
diff changeset
421 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.split_min_anchor.__str__ != ""
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jjohnson
parents:
diff changeset
422 $refGenomeSource.defuse_param.split_min_anchor
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
423 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
424 #try
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jjohnson
parents:
diff changeset
425 $ref_dict['split_min_anchor']
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jjohnson
parents:
diff changeset
426 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
427 4
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jjohnson
parents:
diff changeset
428 #end try
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jjohnson
parents:
diff changeset
429 #end if
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jjohnson
parents:
diff changeset
430 max_concordant_ratio = #slurp
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jjohnson
parents:
diff changeset
431 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_concordant_ratio.__str__ != ""
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jjohnson
parents:
diff changeset
432 $refGenomeSource.defuse_param.max_concordant_ratio
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jjohnson
parents:
diff changeset
433 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
434 #try
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jjohnson
parents:
diff changeset
435 $ref_dict['max_concordant_ratio']
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jjohnson
parents:
diff changeset
436 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
437 0.1
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jjohnson
parents:
diff changeset
438 #end try
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jjohnson
parents:
diff changeset
439 #end if
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jjohnson
parents:
diff changeset
440 splice_bias = #slurp
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jjohnson
parents:
diff changeset
441 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.splice_bias.__str__ != ""
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jjohnson
parents:
diff changeset
442 $refGenomeSource.defuse_param.splice_bias
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
443 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
444 #try
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jjohnson
parents:
diff changeset
445 $ref_dict['splice_bias']
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jjohnson
parents:
diff changeset
446 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
447 10
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jjohnson
parents:
diff changeset
448 #end try
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jjohnson
parents:
diff changeset
449 #end if
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jjohnson
parents:
diff changeset
450 denovo_assembly = #slurp
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jjohnson
parents:
diff changeset
451 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.denovo_assembly.__str__ != ""
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jjohnson
parents:
diff changeset
452 $refGenomeSource.defuse_param.denovo_assembly
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jjohnson
parents:
diff changeset
453 #else
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jjohnson
parents:
diff changeset
454 #try
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jjohnson
parents:
diff changeset
455 $ref_dict['denovo_assembly']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
456 #except
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jjohnson
parents:
diff changeset
457 no
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jjohnson
parents:
diff changeset
458 #end try
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jjohnson
parents:
diff changeset
459 #end if
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jjohnson
parents:
diff changeset
460 probability_threshold = #slurp
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jjohnson
parents:
diff changeset
461 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.probability_threshold.__str__ != ""
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jjohnson
parents:
diff changeset
462 $refGenomeSource.defuse_param.probability_threshold
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jjohnson
parents:
diff changeset
463 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
464 #try
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jjohnson
parents:
diff changeset
465 $ref_dict['probability_threshold']
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jjohnson
parents:
diff changeset
466 #except
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jjohnson
parents:
diff changeset
467 0.50
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jjohnson
parents:
diff changeset
468 #end try
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jjohnson
parents:
diff changeset
469 #end if
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jjohnson
parents:
diff changeset
470 positive_controls = \$(data_directory)/controls.txt
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jjohnson
parents:
diff changeset
471
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
472 # Position density when calculating covariance
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
473 covariance_sampling_density = #slurp
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jjohnson
parents:
diff changeset
474 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.covariance_sampling_density.__str__ != ""
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jjohnson
parents:
diff changeset
475 $refGenomeSource.defuse_param.covariance_sampling_density
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
476 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
477 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
478 $ref_dict['covariance_sampling_density']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
479 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
480 0.01
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
481 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
482 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
483
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
484
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
485 # Number of reads for each job in split
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
486 reads_per_job = 1000000
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
487
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
488 # Number of regions for each breakpoint sequence job in split
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
489 regions_per_job = 20
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
490
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
491 #raw
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
492 # If you have command line 'mail' and wish to be notified
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jjohnson
parents:
diff changeset
493 # mailto = andrew.mcpherson@gmail.com
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jjohnson
parents:
diff changeset
494
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
495 # Remove temp files
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
496 remove_job_files = yes
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
497 remove_job_temp_files = yes
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
498
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
499 # Converting to fastq
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
500 # Fastq converter config format 1 for reads stored in separate files for each end
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
501 # data_lane_rexex_N is a perl regex which stores the lane id in $1
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
502 # data_end_regex_N is a perl regex which stores the end, 1 or 2, in $1
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
503 # data_compress_regex_N is a perl regex which stores the compression extension in $1
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
504 # data_convert_N is the associated conversion utility that takes data at stdin and outputs fastq at stdout
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
505 # Fastq converter config format 2 for reads stored in separate files for each end
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
506 # data_lane_regex_N is a perl regex which stores the lane id in $1
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
507 # data_compress_regex_N is a perl regex which stores the compression extension in $1
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
508 # data_end1_converter_N is the associated conversion utility that takes data at stdin and outputs fastq for end 1 at stdout
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
509 # data_end2_converter_N is the associated conversion utility that takes data at stdin and outputs fastq for end 2 at stdout
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
510
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
511 data_lane_regex_1 = ^(.+)_[12]_export\.txt.*$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
512 data_end_regex_1 = ^.+_([12])_export\.txt.*$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
513 data_compress_regex_1 = ^.+_[12]_export\.txt(.*)$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
514 data_converter_1 = $(scripts_directory)/fq_all2std.pl export2std
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
515
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
516 data_lane_regex_2 = ^(.+)_[12]_concat_qseq\.txt.*$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
517 data_end_regex_2 = ^.+_([12])_concat_qseq\.txt.*$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
518 data_compress_regex_2 = ^.+_[12]_concat_qseq\.txt(.*)$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
519 data_converter_2 = $(scripts_directory)/qseq2fastq.pl
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
520
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
521 data_lane_regex_3 = ^(.+)\.bam.*$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
522 data_compress_regex_3 = ^.+\.bam(.*)$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
523 data_end1_converter_3 = samtools view - | filter_sam_mate.pl 1 | sam_to_fastq.pl
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
524 data_end2_converter_3 = samtools view - | filter_sam_mate.pl 2 | sam_to_fastq.pl
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
525
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
526 data_lane_regex_4 = ^(.+).[12].fastq.*$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
527 data_end_regex_4 = ^.+.([12]).fastq.*$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
528 data_compress_regex_4 = ^.+.[12].fastq(.*)$
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
529 data_converter_4 = cat
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
530 #end raw
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
531
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
532 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
533
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
534 </configfile>
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
535 <configfile name="shscript">
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
536 #!/bin/bash
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
537 ## define some things for cheetah proccessing
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
538 #set $ds = chr(36)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
539 #set $amp = chr(38)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
540 #set $gt = chr(62)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
541 #set $lt = chr(60)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
542 #set $echo_cmd = 'echo'
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
543 ## Find the defuse.pl in the galaxy tool path
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
544 #import Cheetah.FileUtils
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
545 ## declare a bash function for converting a results tsv into html with links to the get_reads output files
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
546 results2html() {
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
547 rlts=${ds}1
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
548 rslt_name=`basename ${ds}rlts`
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
549 html=${ds}2
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
550 echo '${lt}html${gt}${lt}head${gt}${lt}title${gt}Defuse '${ds}rslt_name'${lt}/title${gt}${lt}/head${gt}${lt}body${gt}' ${gt} ${ds}html
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
551 echo '${lt}h2${gt}Defuse '${ds}rslt_name'${lt}/h2${gt}${lt}table${gt}' ${gt}${gt} ${ds}html
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
552 if [ -z "${ds}3" ]
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
553 then
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
554 awk '${ds}1 ~ /cluster_id/{printf("${lt}tr${gt}");for (i = 1; i ${lt}= NF; i++) {printf("${lt}th${gt}%s${lt}/th${gt}", ${ds}i);}; printf("${lt}/tr${gt}\n");}\
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
555 ${ds}1 ~ /[1-9][0-9]*/{printf("${lt}tr${gt}");for (i = 1; i ${lt}= NF; i++) {printf("${lt}td${gt}%s${lt}/td${gt}", ${ds}i);}; printf("${lt}/tr${gt}\n");}' ${ds}rlts ${gt}${gt} ${ds}html
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
556 echo '${lt}/table${gt}' ${gt}${gt} ${ds}html
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
557 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} ${ds}html
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
558 else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
559 export _EFP=${ds}3
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
560 mkdir -p ${ds}_EFP
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
561 awk '${ds}1 ~ /cluster_id/{printf("${lt}tr${gt}");for (i = 1; i ${lt}= NF; i++) {printf("${lt}th${gt}%s${lt}/th${gt}", ${ds}i);}; printf("${lt}/tr${gt}\n");}\
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
562 ${ds}1 ~ /[1-9][0-9]*/{fn="cluster_"${ds}1"_reads.txt"; \
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
563 printf("${lt}tr${gt}${lt}td${gt}${lt}a href=\"%s\"${gt}%s${lt}/a${gt}${lt}/td${gt}",fn, ${ds}1);for (i = 2; i ${lt}= NF; i++) {printf("${lt}td${gt}%s${lt}/td${gt}", ${ds}i);}; printf("${lt}/tr${gt}\n");}' ${ds}rlts ${gt}${gt} ${ds}html
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
564 echo '${lt}/table${gt}' ${gt}${gt} ${ds}html
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
565 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} ${ds}html
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
566 for i in `awk '${ds}1 ~ /[1-9][0-9]*/{print ${ds}1}' ${ds}rlts`;
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
567 do fn=cluster_${ds}{i}_reads.txt;
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
568 pn=${ds}_EFP/${ds}fn;
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
569 perl \${DEFUSE_PATH}/scripts/get_reads.pl -c $defuse_config -o output_dir -i ${ds}i ${gt} ${ds}pn;
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
570 done
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
571 fi
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
572 }
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
573 ## substitute pathnames into config file
1
6ee9d8b45113 Fix sed options
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
574 if `grep __DEFUSE_PATH__ $defuse_config ${gt} /dev/null`;then sed -i'.tmp' "s#__DEFUSE_PATH__#\${DEFUSE_PATH}#" $defuse_config; fi
6ee9d8b45113 Fix sed options
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
575 if `grep __SAMTOOLS_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} SAMTOOLS_BIN=`which samtools`;then sed -i'.tmp' "s#__SAMTOOLS_BIN__#\${SAMTOOLS_BIN}#" $defuse_config; fi
6ee9d8b45113 Fix sed options
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
576 if `grep __BOWTIE_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BOWTIE_BIN=`which bowtie`;then sed -i'.tmp' "s#__BOWTIE_BIN__#\${BOWTIE_BIN}#" $defuse_config; fi
6ee9d8b45113 Fix sed options
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
577 if `grep __BOWTIE_BUILD_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BOWTIE_BUILD_BIN=`which bowtie-build`;then sed -i'.tmp' "s#__BOWTIE_BUILD_BIN__#\${BOWTIE_BUILD_BIN}#" $defuse_config; fi
6ee9d8b45113 Fix sed options
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
578 if `grep __BLAT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BLAT_BIN=`which blat`;then sed -i'.tmp' "s#__BLAT_BIN__#\${BLAT_BIN}#" $defuse_config; fi
2
60a83037fd82 Fix faToTwoBit name
Jim Johnson <jj@umn.edu>
parents: 1
diff changeset
579 if `grep __FATOTWOBIT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} FATOTWOBIT_BIN=`which faToTwoBit`;then sed -i'.tmp' "s#__FATOTWOBIT_BIN__#\${FATOTWOBIT_BIN}#" $defuse_config; fi
7
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
580 if `grep __GMAP_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} GMAP_BIN=`which gmap`;then sed -i'.tmp' "s#__GMAP_BIN__#\${GMAP_BIN}#" $defuse_config; fi
f4eadbd2e7c1 Add gmap_setup_bin and gmap_index_directory to defuse.xml config file generation
Jim Johnson <jj@umn.edu>
parents: 6
diff changeset
581 if `grep __GMAP_SETUP_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} GMAP_SETUP_BIN=`which gmap_setup`;then sed -i'.tmp' "s#__GMAP_SETUP_BIN__#\${GMAP_SETUP_BIN}#" $defuse_config; fi
1
6ee9d8b45113 Fix sed options
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
582 if `grep __R_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} R_BIN=`which R`;then sed -i'.tmp' "s#__R_BIN__#\${R_BIN}#" $defuse_config; fi
6ee9d8b45113 Fix sed options
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
583 if `grep __RSCRIPT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} RSCRIPT_BIN=`which Rscript`;then sed -i'.tmp' "s#__RSCRIPT_BIN__#\${RSCRIPT_BIN}#" $defuse_config; fi
0
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jjohnson
parents:
diff changeset
584
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jjohnson
parents:
diff changeset
585
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jjohnson
parents:
diff changeset
586 ## copy config to output
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jjohnson
parents:
diff changeset
587 cp $defuse_config $config_txt
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jjohnson
parents:
diff changeset
588 ## make a data_dir and ln -s the input fastq
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jjohnson
parents:
diff changeset
589 mkdir -p data_dir
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jjohnson
parents:
diff changeset
590 ln -s $left_pairendreads data_dir/reads_1.fastq
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jjohnson
parents:
diff changeset
591 ln -s $right_pairendreads data_dir/reads_2.fastq
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jjohnson
parents:
diff changeset
592 ## ln to output_dir in from_work_dir
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jjohnson
parents:
diff changeset
593 #if $defuse_out.__str__ != 'None':
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jjohnson
parents:
diff changeset
594 mkdir -p $defuse_out.extra_files_path
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jjohnson
parents:
diff changeset
595 ln -s $defuse_out.extra_files_path output_dir
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jjohnson
parents:
diff changeset
596 #else
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jjohnson
parents:
diff changeset
597 mkdir -p output_dir
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jjohnson
parents:
diff changeset
598 #end if
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jjohnson
parents:
diff changeset
599 ## run defuse.pl
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jjohnson
parents:
diff changeset
600 perl \${DEFUSE_PATH}/scripts/defuse.pl -c $defuse_config -d data_dir -o output_dir -p 8
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jjohnson
parents:
diff changeset
601 ## copy primary results to output datasets
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jjohnson
parents:
diff changeset
602 if [ -e output_dir/log/defuse.log ]; then cp output_dir/log/defuse.log $defuse_log; fi
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jjohnson
parents:
diff changeset
603 if [ -e output_dir/results.tsv ]; then cp output_dir/results.tsv $results_tsv; fi
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jjohnson
parents:
diff changeset
604 if [ -e output_dir/results.filtered.tsv ]; then cp output_dir/results.filtered.tsv $results_filtered_tsv; fi
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jjohnson
parents:
diff changeset
605 if [ -e output_dir/results.classify.tsv ]; then cp output_dir/results.classify.tsv $results_classify_tsv; fi
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jjohnson
parents:
diff changeset
606 ## create html with links for output_dir
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jjohnson
parents:
diff changeset
607 #if $defuse_out.__str__ != 'None':
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jjohnson
parents:
diff changeset
608 if [ -e $defuse_out ]
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jjohnson
parents:
diff changeset
609 then
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jjohnson
parents:
diff changeset
610 echo '${lt}html${gt}${lt}head${gt}${lt}title${gt}Defuse Output${lt}/title${gt}${lt}/head${gt}${lt}body${gt}' ${gt} $defuse_out
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jjohnson
parents:
diff changeset
611 echo '${lt}h2${gt}Defuse Output Files${lt}/h2${gt}${lt}ul${gt}' ${gt}${gt} $defuse_out
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jjohnson
parents:
diff changeset
612 pushd $defuse_out.extra_files_path
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jjohnson
parents:
diff changeset
613 for f in `find -L . -maxdepth 1 -type f`;
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jjohnson
parents:
diff changeset
614 do fn=`basename ${ds}f`; echo '${lt}li${gt}${lt}a href="'${ds}fn'"${gt}'${ds}fn'${lt}/a${gt}${lt}/li${gt}' ${gt}${gt} $defuse_out;
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jjohnson
parents:
diff changeset
615 done
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jjohnson
parents:
diff changeset
616 popd
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jjohnson
parents:
diff changeset
617 echo '${lt}/ul${gt}' ${gt}${gt} $defuse_out
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jjohnson
parents:
diff changeset
618 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} $defuse_out
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jjohnson
parents:
diff changeset
619 fi
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jjohnson
parents:
diff changeset
620 #end if
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jjohnson
parents:
diff changeset
621 ## run get_reads.pl on each cluster
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jjohnson
parents:
diff changeset
622 #if $fusion_reads.__str__ != 'None':
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jjohnson
parents:
diff changeset
623 if [ -e output_dir/results.filtered.tsv -a -e $fusion_reads ]
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jjohnson
parents:
diff changeset
624 then
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jjohnson
parents:
diff changeset
625 mkdir -p $fusion_reads.extra_files_path
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jjohnson
parents:
diff changeset
626 results2html output_dir/results.filtered.tsv $fusion_reads $fusion_reads.extra_files_path
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jjohnson
parents:
diff changeset
627 fi
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jjohnson
parents:
diff changeset
628 #end if
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jjohnson
parents:
diff changeset
629 </configfile>
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jjohnson
parents:
diff changeset
630 </configfiles>
5
87033f379b99 Edit labels and help.
Jim Johnson <jj@umn.edu>
parents: 4
diff changeset
631
0
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jjohnson
parents:
diff changeset
632 <tests>
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jjohnson
parents:
diff changeset
633 </tests>
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jjohnson
parents:
diff changeset
634 <help>
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jjohnson
parents:
diff changeset
635 **DeFuse**
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jjohnson
parents:
diff changeset
636
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jjohnson
parents:
diff changeset
637 DeFuse_ is a software package for gene fusion discovery using RNA-Seq data. The software uses clusters of discordant paired end alignments to inform a split read alignment analysis for finding fusion boundaries. The software also employs a number of heuristic filters in an attempt to reduce the number of false positives and produces a fully annotated output for each predicted fusion.
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jjohnson
parents:
diff changeset
638
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jjohnson
parents:
diff changeset
639 Journal reference: http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1001138
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jjohnson
parents:
diff changeset
640
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jjohnson
parents:
diff changeset
641 .. _DeFuse: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=Main_Page
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jjohnson
parents:
diff changeset
642
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jjohnson
parents:
diff changeset
643 ------
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jjohnson
parents:
diff changeset
644
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jjohnson
parents:
diff changeset
645 **Inputs**
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jjohnson
parents:
diff changeset
646
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jjohnson
parents:
diff changeset
647 DeFuse requires 2 fastq files for paried reads, one with the left mate of the paired reads, and a second fastq with the the right mate of the paired reads (**with reads in the same order as in the first fastq dataset**).
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jjohnson
parents:
diff changeset
648
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jjohnson
parents:
diff changeset
649 If your fastq files have reads in different orders or include unpaired reads, you can preprocess them with **FASTQ interlacer** to create a single interlaced fastq dataset with only the paired reads and input that to **FASTQ de-interlacer** to separate the reads into a left fastq and right fastq.
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jjohnson
parents:
diff changeset
650
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jjohnson
parents:
diff changeset
651 DeFuse uses a Reference Dataset to search for gene fusions. The Reference Dataset is generated from the following sources in DeFuse_Version_0.4_:
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jjohnson
parents:
diff changeset
652 - genome_fasta from Ensembl
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jjohnson
parents:
diff changeset
653 - gene_models from Ensembl
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jjohnson
parents:
diff changeset
654 - repeats_filename from UCSC RepeatMasker rmsk.txt
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jjohnson
parents:
diff changeset
655 - est_fasta from UCSC
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jjohnson
parents:
diff changeset
656 - est_alignments from UCSC intronEst.txt
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jjohnson
parents:
diff changeset
657 - unigene_fasta from NCBI
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jjohnson
parents:
diff changeset
658
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jjohnson
parents:
diff changeset
659 .. _DeFuse_Version_0.4: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=DeFuse_Version_0.4.2
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jjohnson
parents:
diff changeset
660
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jjohnson
parents:
diff changeset
661 ------
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jjohnson
parents:
diff changeset
662
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jjohnson
parents:
diff changeset
663 **Outputs**
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jjohnson
parents:
diff changeset
664
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jjohnson
parents:
diff changeset
665 The galaxy history will contain 5 outputs: the config.txt file that provides DeFuse with its parameters, the defuse.log which details what DeFuse has done and can be useful in determining any errors, and the 3 results files that defuse generates.
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jjohnson
parents:
diff changeset
666
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jjohnson
parents:
diff changeset
667 DeFuse generates 3 results files: results.txt, results.filtered.txt, and results.classify.txt. All three files have the same format, though results.classify.txt has a probability column from the application of the classifier to results.txt, and results.filtered.txt has been filtered according to the threshold probability as set in config.txt.
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jjohnson
parents:
diff changeset
668
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jjohnson
parents:
diff changeset
669 The file format is tab delimited with one prediction per line, and the following fields per prediction (not necessarily in this order):
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jjohnson
parents:
diff changeset
670
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jjohnson
parents:
diff changeset
671 - **Identification**
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jjohnson
parents:
diff changeset
672 - cluster_id : random identifier assigned to each prediction
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jjohnson
parents:
diff changeset
673 - library_name : library name given on the command line of defuse
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jjohnson
parents:
diff changeset
674 - gene1 : ensembl id of gene 1
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jjohnson
parents:
diff changeset
675 - gene2 : ensembl id of gene 2
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jjohnson
parents:
diff changeset
676 - gene_name1 : name of gene 1
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jjohnson
parents:
diff changeset
677 - gene_name2 : name of gene 2
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jjohnson
parents:
diff changeset
678 - **Evidence**
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jjohnson
parents:
diff changeset
679 - break_predict : breakpoint prediction method, denovo or splitr, that is considered most reliable
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jjohnson
parents:
diff changeset
680 - concordant_ratio : proportion of spanning reads considered concordant by blat
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jjohnson
parents:
diff changeset
681 - denovo_min_count : minimum kmer count across denovo assembled sequence
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jjohnson
parents:
diff changeset
682 - denovo_sequence : fusion sequence predicted by debruijn based denovo sequence assembly
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jjohnson
parents:
diff changeset
683 - denovo_span_pvalue : p-value, lower values are evidence the prediction is a false positive
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jjohnson
parents:
diff changeset
684 - gene_align_strand1 : alignment strand for spanning read alignments to gene 1
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jjohnson
parents:
diff changeset
685 - gene_align_strand2 : alignment strand for spanning read alignments to gene 2
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jjohnson
parents:
diff changeset
686 - min_map_count : minimum of the number of genomic mappings for each spanning read
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jjohnson
parents:
diff changeset
687 - max_map_count : maximum of the number of genomic mappings for each spanning read
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jjohnson
parents:
diff changeset
688 - mean_map_count : average of the number of genomic mappings for each spanning read
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
689 - num_multi_map : number of spanning reads that map to more than one genomic location
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
690 - span_count : number of spanning reads supporting the fusion
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jjohnson
parents:
diff changeset
691 - span_coverage1 : coverage of spanning reads aligned to gene 1 as a proportion of expected coverage
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jjohnson
parents:
diff changeset
692 - span_coverage2 : coverage of spanning reads aligned to gene 2 as a proportion of expected coverage
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jjohnson
parents:
diff changeset
693 - span_coverage_min : minimum of span_coverage1 and span_coverage2
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jjohnson
parents:
diff changeset
694 - span_coverage_max : maximum of span_coverage1 and span_coverage2
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
695 - splitr_count : number of split reads supporting the prediction
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jjohnson
parents:
diff changeset
696 - splitr_min_pvalue : p-value, lower values are evidence the prediction is a false positive
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jjohnson
parents:
diff changeset
697 - splitr_pos_pvalue : p-value, lower values are evidence the prediction is a false positive
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
698 - splitr_sequence : fusion sequence predicted by split reads
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
699 - splitr_span_pvalue : p-value, lower values are evidence the prediction is a false positive
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jjohnson
parents:
diff changeset
700 - **Annotation**
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jjohnson
parents:
diff changeset
701 - adjacent : fusion between adjacent genes
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jjohnson
parents:
diff changeset
702 - altsplice : fusion likely the product of alternative splicing between adjacent genes
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jjohnson
parents:
diff changeset
703 - break_adj_entropy1 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 1
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jjohnson
parents:
diff changeset
704 - break_adj_entropy2 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 2
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jjohnson
parents:
diff changeset
705 - break_adj_entropy_min : minimum of break_adj_entropy1 and break_adj_entropy2
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jjohnson
parents:
diff changeset
706 - breakpoint_homology : number of nucleotides at the fusion splice that align equally well to gene 1 or gene 2
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jjohnson
parents:
diff changeset
707 - breakseqs_estislands_percident : maximum percent identity of fusion sequence alignments to est islands
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jjohnson
parents:
diff changeset
708 - cdna_breakseqs_percident : maximum percent identity of fusion sequence alignments to cdna
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jjohnson
parents:
diff changeset
709 - deletion : fusion produced by a genomic deletion
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jjohnson
parents:
diff changeset
710 - est_breakseqs_percident : maximum percent identity of fusion sequence alignments to est
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jjohnson
parents:
diff changeset
711 - eversion : fusion produced by a genomic eversion
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jjohnson
parents:
diff changeset
712 - exonboundaries : fusion splice at exon boundaries
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jjohnson
parents:
diff changeset
713 - expression1 : expression of gene 1 as number of concordant pairs aligned to exons
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jjohnson
parents:
diff changeset
714 - expression2 : expression of gene 2 as number of concordant pairs aligned to exons
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jjohnson
parents:
diff changeset
715 - gene_chromosome1 : chromosome of gene 1
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jjohnson
parents:
diff changeset
716 - gene_chromosome2 : chromosome of gene 2
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jjohnson
parents:
diff changeset
717 - gene_end1 : end position for gene 1
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jjohnson
parents:
diff changeset
718 - gene_end2 : end position for gene 2
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jjohnson
parents:
diff changeset
719 - gene_location1 : location of breakpoint in gene 1
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jjohnson
parents:
diff changeset
720 - gene_location2 : location of breakpoint in gene 2
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jjohnson
parents:
diff changeset
721 - gene_start1 : start of gene 1
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jjohnson
parents:
diff changeset
722 - gene_start2 : start of gene 2
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jjohnson
parents:
diff changeset
723 - gene_strand1 : strand of gene 1
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
724 - gene_strand2 : strand of gene 2
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jjohnson
parents:
diff changeset
725 - genome_breakseqs_percident : maximum percent identity of fusion sequence alignments to genome
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jjohnson
parents:
diff changeset
726 - genomic_break_pos1 : genomic position in gene 1 of fusion splice / breakpoint
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jjohnson
parents:
diff changeset
727 - genomic_break_pos2 : genomic position in gene 2 of fusion splice / breakpoint
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jjohnson
parents:
diff changeset
728 - genomic_strand1 : genomic strand in gene 1 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream
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jjohnson
parents:
diff changeset
729 - genomic_strand2 : genomic strand in gene 2 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream
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jjohnson
parents:
diff changeset
730 - interchromosomal : fusion produced by an interchromosomal translocation
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jjohnson
parents:
diff changeset
731 - interrupted_index1 : ratio of coverage before and after the fusion splice / breakpoint in gene 1
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jjohnson
parents:
diff changeset
732 - interrupted_index2 : ratio of coverage before and after the fusion splice / breakpoint in gene 2
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jjohnson
parents:
diff changeset
733 - inversion : fusion produced by genomic inversion
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jjohnson
parents:
diff changeset
734 - orf : fusion combines genes in a way that preserves a reading frame
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jjohnson
parents:
diff changeset
735 - probability : probability produced by classification using adaboost and example positives/negatives (only given in results.classified.txt)
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jjohnson
parents:
diff changeset
736 - read_through : fusion involving adjacent potentially resulting from co-transcription rather than genome rearrangement
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jjohnson
parents:
diff changeset
737 - repeat_proportion1 : proportion of the spanning reads in gene 1 that span a repeat region
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jjohnson
parents:
diff changeset
738 - repeat_proportion2 : proportion of the spanning reads in gene 2 that span a repeat region
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jjohnson
parents:
diff changeset
739 - max_repeat_proportion : max of repeat_proportion1 and repeat_proportion2
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jjohnson
parents:
diff changeset
740 - splice_score : number of nucleotides similar to GTAG at fusion splice
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jjohnson
parents:
diff changeset
741 - num_splice_variants : number of potential splice variants for this gene pair
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jjohnson
parents:
diff changeset
742 - splicing_index1 : number of concordant pairs in gene 1 spanning the fusion splice / breakpoint, divided by number of spanning reads supporting the fusion with gene 2
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jjohnson
parents:
diff changeset
743 - splicing_index2 : number of concordant pairs in gene 2 spanning the fusion splice / breakpoint, divided by number of spanning reads supporting the fusion with gene 1
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jjohnson
parents:
diff changeset
744
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jjohnson
parents:
diff changeset
745
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
746 **Example**
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jjohnson
parents:
diff changeset
747
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
748 results.tsv::
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jjohnson
parents:
diff changeset
749
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jjohnson
parents:
diff changeset
750 cluster_id splitr_sequence splitr_count splitr_span_pvalue splitr_pos_pvalue splitr_min_pvalue adjacent altsplice break_adj_entropy1 break_adj_entropy2 break_adj_entropy_min break_predict breakpoint_homology breakseqs_estislands_percident cdna_breakseqs_percident concordant_ratio deletion est_breakseqs_percident eversion exonboundaries expression1 expression2 gene1 gene2 gene_align_strand1 gene_align_strand2 gene_chromosome1 gene_chromosome2 gene_end1 gene_end2 gene_location1 gene_location2 gene_name1 gene_name2 gene_start1 gene_start2 gene_strand1 gene_strand2 genome_breakseqs_percident genomic_break_pos1 genomic_break_pos2 genomic_strand1 genomic_strand2 interchromosomal interrupted_index1 interrupted_index2 inversion library_name max_map_count max_repeat_proportion mean_map_count min_map_count num_multi_map num_splice_variants orf read_through repeat_proportion1 repeat_proportion2 span_count span_coverage1 span_coverage2 span_coverage_max span_coverage_min splice_score splicing_index1 splicing_index2
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jjohnson
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751 1169 GCTTACTGTATGCCAGGCCCCAGAGGGGCAACCACCCTCTAAAGAGAGCGGCTCCTGCCTCCCAGAAAGCTCACAGACTGTGGGAGGGAAACAGGCAGCAGGTGAAGATGCCAAATGCCAGGATATCTGCCCTGTCCTTGCTTGATGCAGCTGCTGGCTCCCACGTTCTCCCCAGAATCCCCTCACACTCCTGCTGTTTTCTCTGCAGGTTGGCAGAGCCCCATGAGGGCAGGGCAGCCACTTTGTTCTTGGGCGGCAAACCTCCCTGGGCGGCACGGAAACCACGGTGAGAAGGGGGCAGGTCGGGCACGTGCAGGGACCACGCTGCAGG|TGTACCCAACAGCTCCGAAGAGACAGCGACCATCGAGAACGGGCCATGATGACGATGGCGGTTTTGTCGAAAAGAAAAGGGGGAAATGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGAGATTCGGTGACCCCACCCCCAACCCCGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTGAATGGATTAAGGGCGGTGCGAGACGTGCTTT 2 0.000436307890680442 0.110748295953850 0.0880671602973091 N Y 3.19872427442695 3.48337348351473 3.19872427442695 splitr 0 0 0 0 Y 0 N N 0 0 ENSG00000105549 ENSG00000213753 + - 19 19 376013 59111168 intron upstream THEG AC016629.2 361750 59084870 - + 0 375099 386594 + - N 8.34107429512245 - N output_dir 82 0.677852348993289 40.6666666666667 1 11 1 N N 0.361271676300578 0.677852348993289 12 0.758602776578432 0.569678713445872 0.758602776578432 0.569678713445872 2 0.416666666666667 -
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752 3596 TGGGGGTTGAGGCTTCTGTTCCCAGGTTCCATGACCTCAGAGGTGGCTGGTGAGGTTATGACCTTTGCCCTCCAGCCCTGGCTTAAAACCTCAGCCCTAGGACCTGGTTAAAGGAAGGGGAGATGGAGCTTTGCCCCGACCCCCCCCCGTTCCCCTCACCTGTCAGCCCGAGCTGGGCCAGGGCCCCTAGGTGGGGAACTGGGCCGGGGGGCGGGCACAAGCGGAGGTGGTGCCCCCAAAAGGGCTCCCGGTGGGGTCTTGCTGAGAAGGTGAGGGGTTCCCGGGGCCGCAGCAGGTGGTGGTGGAGGAGCCAAGCGGCTGTAGAGCAAGGGGTGAGCAGGTTCCAGACCGTAGAGGCGGGCAGCGGCCACGGCCCCGGGTCCAGTTAGCTCCTCACCCGCCTCATAGAAGCGGGGTGGCCTTGCCAGGCGTGGGGGTGCTGCC|TTCCTTGGATGTGGTAGCCGTTTCTCAGGCTCCCTCTCCGGAATCGAACCCTGATTCCCCGTCACCCGTGGTCACCATGGTAGGCACGGCGACTACCATCGAAAGTTGATAGGGCAGACGTTCGAATGGGTCGTCGCCGCCACGGGGGGCGTGCGATCAGCCCGAGGTTATCTAGAGTCACCAAAGCCGCCGGCGCCCGCCCCCCGGCCGGGGCCGGAGAGGGGCTGACCGGGTTGGTTTTGATCTGATAAATGCACGCATCCCCCCCGCGAAGGGGGTCAGCGCCCGTCGGCATGTATTAGCTCTAGAATTACCACAGTTATCCAAGTAGGAGAGGAGCGAGCGACCAAAGGAACCATAACTGATTTAATGAGCCATTCGCAGTTTCACTGTACCGGCCGTGCGTACTTAGACATGCATGGCTTAATCTTTGAGACAAGCATATGCTACTGGCAGG 250 7.00711162298275e-72 0.00912124762512338 0.00684237452309549 N N 3.31745197152461 3.47233119514066 3.31745197152461 splitr 7 0.0157657657657656 0 0 N 0.0135135135135136 N N 0 0 ENSG00000156860 ENSG00000212932 - + 16 21 30682131 48111157 coding upstream FBRS RPL23AP4 30670289 48110676 + + 0.0157657657657656 30680678 9827473 - + Y - - N output_dir 2 1 1.11111111111111 1 1 1 N N 0 1 9 0.325530693397641 0.296465452915709 0.325530693397641 0.296465452915709 2 - -
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753
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754 </help>
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755 </tool>