annotate defuse.xml @ 3:c90022a13c7c

DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace. Allow the creatation of an HTML formatted results.filtered.tsv with links to cluster detail provided by the get_read.pl command.
author Jim Johnson <jj@umn.edu>
date Fri, 06 Jan 2012 16:06:17 -0600
parents 4245c2b047de
children 679a5c7b1294
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c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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1 <tool id="defuse" name="DeFuse" version="1.2">
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2 <description>identify fusion transcripts</description>
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3 <requirements>
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4 <requirement type="binary"></requirement>
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5 </requirements>
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6 <command interpreter="command"> /bin/bash $shscript </command>
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7 <inputs>
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8 <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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9 <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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10 <conditional name="refGenomeSource">
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11 <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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12 <option value="indexed">Use a built-in DeFuse Reference Dataset</option>
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13 <option value="history">Use a configuration from your history that specifies the DeFuse Reference Dataset</option>
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14 </param>
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15 <when value="indexed">
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16 <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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17 <options from_file="defuse.loc">
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18 <column name="name" index="1"/>
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19 <column name="value" index="2"/>
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20 <filter type="sort_by" column="0" />
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21 <validator type="no_options" message="No indexes are available" />
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22 </options>
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23 </param>
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24 <conditional name="defuse_param">
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25 <param name="settings" type="select" label="Defuse parameter settings" help="">
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26 <option value="preSet">Default settings</option>
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27 <option value="full">Full parameter list</option>
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28 </param>
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29 <when value="preSet" />
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30 <when value="full">
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31 <param name="max_insert_size" type="integer" value="500" optional="true" label="Bowtie max_insert_size" />
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32 <param name="dna_concordant_length" type="integer" value="2000" optional="true" label="Minimum gene fusion range dna_concordant_length" />
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33 <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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34 <param name="clustering_precision" type="float" value=".95" optional="true" label="Filter clustering_precision">
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35 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/>
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36 </param>
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37 <param name="span_count_threshold" type="integer" value="5" optional="true" label="Filter span_count_threshold" />
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38 <param name="split_count_threshold" type="integer" value="3" optional="true" label="Filter split_count_threshold" />
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39 <param name="percent_identity_threshold" type="float" value=".90" optional="true" label="Filter percent_identity_threshold">
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40 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/>
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41 </param>
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42 <param name="max_dist_pos" type="integer" value="600" optional="true" label="Filter max_dist_pos" />
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43 <param name="num_dist_genes" type="integer" value="500" optional="true" label="Filter num_dist_genes" />
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44 <param name="split_min_anchor" type="integer" value="4" optional="true" label="Filter split_min_anchor" />
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45 <param name="max_concordant_ratio" type="float" value="0.1" optional="true" label="Filter max_concordant_ratio">
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46 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/>
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47 </param>
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48 <param name="splice_bias" type="integer" value="10" optional="true" label="Filter splice_bias" />
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49 <param name="probability_threshold" type="float" value="0.50" optional="true" label="Filter probability_threshold">
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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="covariance_sampling_density" type="float" value="0.01" optional="true" label="covariance_sampling_density">
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53 <help>Position density when calculating covariance</help>
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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="denovo_assembly" type="select" label="denovo_assembly" help="">
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57 <option value="">Use Default</option>
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58 <option value="no">no</option>
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59 <option value="yes">yes</option>
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60 </param>
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61 <!--
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62 <param name="positive_controls" type="data" format="txt" optional=true label="Defuse positive_controls" help=""/>
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63 -->
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64 </when> <!-- full -->
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65 </conditional> <!-- defuse_param -->
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66 </when>
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67 <when value="history">
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68 <param name="config" type="data" format="txt" label="Defuse Config file" help=""/>
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69 </when> <!-- history -->
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70 </conditional> <!-- refGenomeSource -->
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71 <param name="keep_output" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Save DeFuse working directory files"/>
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72 <param name="do_get_reads" type="boolean" checked="false" truevalue="yes" falsevalue="no" label="Run get_reads on each cluster"/>
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73 </inputs>
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74 <configfiles>
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75 <configfile name="defuse_config">
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76 #import ast
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77 #if $refGenomeSource.genomeSource == "history":
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78 #include raw $refGenomeSource.config.__str__
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79 #else
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80 #set $ref_dict = dict($ast.literal_eval($refGenomeSource.index.value))
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81 #
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82 # Configuration file for defuse
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83 #
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84 # At a minimum, change all values enclused by []
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85 #
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86
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87 # Directory where the defuse code was unpacked
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88 ## Default location in the tool/defuse directory
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89 # source_directory = ${__root_dir__}/tools/defuse
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90 source_directory = #slurp
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91 #try
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92 $ref_dict['source_directory']
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93 #except
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94 #try
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95 ## Try to find the defuse source dir in the galaxy tool path
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96 #import Cheetah.FileUtils
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97 #set $toolpath = '/'.join([$__root_dir__,'tools','defuse'])
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98 #set $defuse = $Cheetah.FileUtils.findFiles($toolpath,['defuse.pl'],[],['tools','external','include','em','data'])[0]
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99 $defuse.replace('/scripts/defuse.pl','')
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100 #except
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101 ${__root_dir__}/tools/defuse/defuse
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102 #end try
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103 #end try
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104
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105 # Directory where you want your dataset
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106 dataset_directory = #slurp
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107 #try
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108 $ref_dict['dataset_directory']
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109 #except
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110 /project/db/genomes/Hsapiens/hg19/defuse
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111 #end try
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112
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113 # Input genome and gene models
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114 gene_models = #slurp
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115 #try
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116 $ref_dict['gene_models']
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117 #except
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118 \$(dataset_directory)/Homo_sapiens.GRCh37.62.gtf
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119 #end try
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120 genome_fasta = #slurp
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121 #try
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122 $ref_dict['genome_fasta']
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123 #except
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124 \$(dataset_directory)/Homo_sapiens.GRCh37.62.dna.chromosome.fa
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125 #end try
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126
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127 # Repeat table from ucsc genome browser
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128 repeats_filename = #slurp
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129 #try
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130 $ref_dict['repeats_filename']
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131 #except
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132 \$(dataset_directory)/rmsk.txt
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133 #end try
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134
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135 # EST info downloaded from ucsc genome browser
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136 est_fasta = #slurp
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137 #try
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138 $ref_dict['est_fasta']
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139 #except
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140 \$(dataset_directory)/est.fa
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141 #end try
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142 est_alignments = #slurp
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143 #try
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144 $ref_dict['est_alignments']
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145 #except
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146 \$(dataset_directory)/intronEst.txt
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147 #end try
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148
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149 # Unigene clusters downloaded from ncbi
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150 unigene_fasta = #slurp
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151 #try
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152 $ref_dict['unigene_fasta']
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153 #except
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154 \$(dataset_directory)/Hs.seq.uniq
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155 #end try
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156
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157 # Paths to external tools
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158 bowtie_bin = #slurp
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159 #try
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160 $ref_dict['bowtie_bin']
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parents:
diff changeset
161 #except
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parents:
diff changeset
162 /soft/bowtie/0.12.7/bowtie
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parents:
diff changeset
163 #end try
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parents:
diff changeset
164 bowtie_build_bin = #slurp
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parents:
diff changeset
165 #try
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parents:
diff changeset
166 $ref_dict['bowtie_build_bin']
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parents:
diff changeset
167 #except
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parents:
diff changeset
168 /soft/bowtie/0.12.7/bowtie-build
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parents:
diff changeset
169 #end try
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parents:
diff changeset
170 blat_bin = #slurp
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parents:
diff changeset
171 #try
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parents:
diff changeset
172 $ref_dict['blat_bin']
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parents:
diff changeset
173 #except
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parents:
diff changeset
174 /soft/blat/34/bin/blat
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parents:
diff changeset
175 #end try
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parents:
diff changeset
176 fatotwobit_bin = #slurp
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parents:
diff changeset
177 #try
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178 $ref_dict['fatotwobit_bin']
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parents:
diff changeset
179 #except
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parents:
diff changeset
180 /soft/blat/34/bin/faToTwoBit
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parents:
diff changeset
181 #end try
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parents:
diff changeset
182 r_bin = #slurp
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parents:
diff changeset
183 #try
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parents:
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184 $ref_dict['r_bin']
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parents:
diff changeset
185 #except
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parents:
diff changeset
186 /project/sdml-sles11-weblocal/R-2.12.1/bin/R
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187 #end try
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188 rscript_bin = #slurp
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parents:
diff changeset
189 #try
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diff changeset
190 $ref_dict['rscript_bin']
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parents:
diff changeset
191 #except
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parents:
diff changeset
192 /project/sdml-sles11-weblocal/R-2.12.1/bin/Rscript
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parents:
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193 #end try
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194
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195 #raw
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196 # Dataset files
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197 dataset_prefix = $(dataset_directory)/defuse
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198 chromosome_prefix = $(dataset_prefix).dna.chromosomes
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199 exons_fasta = $(dataset_prefix).exons.fa
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diff changeset
200 cds_fasta = $(dataset_prefix).cds.fa
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201 cdna_regions = $(dataset_prefix).cdna.regions
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diff changeset
202 cdna_fasta = $(dataset_prefix).cdna.fa
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diff changeset
203 reference_fasta = $(dataset_prefix).reference.fa
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parents:
diff changeset
204 rrna_fasta = $(dataset_prefix).rrna.fa
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205 ig_gene_list = $(dataset_prefix).ig.gene.list
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206 repeats_regions = $(dataset_directory)/repeats.regions
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parents:
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207 est_split_fasta1 = $(dataset_directory)/est.1.fa
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208 est_split_fasta2 = $(dataset_directory)/est.2.fa
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parents:
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209 est_split_fasta3 = $(dataset_directory)/est.3.fa
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210 est_split_fasta4 = $(dataset_directory)/est.4.fa
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211 est_split_fasta5 = $(dataset_directory)/est.5.fa
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parents:
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212 est_split_fasta6 = $(dataset_directory)/est.6.fa
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213 est_split_fasta7 = $(dataset_directory)/est.7.fa
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parents:
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214 est_split_fasta8 = $(dataset_directory)/est.8.fa
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diff changeset
215 est_split_fasta9 = $(dataset_directory)/est.9.fa
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216
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217 # Fasta files with bowtie indices for prefiltering reads for concordantly mapping pairs
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218 prefilter1 = $(unigene_fasta)
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diff changeset
219
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diff changeset
220 # deFuse scripts and tools
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diff changeset
221 scripts_directory = $(source_directory)/scripts
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diff changeset
222 tools_directory = $(source_directory)/tools
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diff changeset
223 data_directory = $(source_directory)/data
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224 #end raw
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diff changeset
225
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diff changeset
226 # Path to samtools, 0.1.8 is compiled for you, use other versions at your own risk
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parents:
diff changeset
227 samtools_bin = #slurp
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parents:
diff changeset
228 #try
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parents:
diff changeset
229 $ref_dict['samtools_bin']
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parents:
diff changeset
230 #except
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parents:
diff changeset
231 \$(source_directory)/external/samtools-0.1.8/samtools
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parents:
diff changeset
232 #end try
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diff changeset
233
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parents:
diff changeset
234 # Bowtie parameters
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diff changeset
235 bowtie_threads = #slurp
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parents:
diff changeset
236 #try
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parents:
diff changeset
237 $ref_dict['bowtie_threads']
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parents:
diff changeset
238 #except
3
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
239 4
1
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parents:
diff changeset
240 #end try
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parents:
diff changeset
241 bowtie_quals = #slurp
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parents:
diff changeset
242 #try
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parents:
diff changeset
243 $ref_dict['bowtie_quals']
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parents:
diff changeset
244 #except
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parents:
diff changeset
245 --phred33-quals
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parents:
diff changeset
246 #end try
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parents:
diff changeset
247 max_insert_size = #slurp
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diff changeset
248 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_insert_size.__str__ != "":
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diff changeset
249 $refGenomeSource.defuse_param.max_insert_size
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parents:
diff changeset
250 #else
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parents:
diff changeset
251 #try
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parents:
diff changeset
252 $ref_dict['max_insert_size']
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parents:
diff changeset
253 #except
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parents:
diff changeset
254 500
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parents:
diff changeset
255 #end try
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parents:
diff changeset
256 #end if
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parents:
diff changeset
257
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parents:
diff changeset
258 # Parameters for building the dataset
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parents:
diff changeset
259 chromosomes = #slurp
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parents:
diff changeset
260 #try
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parents:
diff changeset
261 $ref_dict.chromosomes
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parents:
diff changeset
262 #except
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parents:
diff changeset
263 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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parents:
diff changeset
264 #end try
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parents:
diff changeset
265 mt_chromosome = #slurp
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parents:
diff changeset
266 #try
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
267 $ref_dict['mt_chromosome']
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parents:
diff changeset
268 #except
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parents:
diff changeset
269 MT
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parents:
diff changeset
270 #end try
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parents:
diff changeset
271 gene_sources = #slurp
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parents:
diff changeset
272 #try
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parents:
diff changeset
273 $ref_dict['gene_sources']
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parents:
diff changeset
274 #except
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parents:
diff changeset
275 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding
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parents:
diff changeset
276 #end try
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parents:
diff changeset
277 ig_gene_sources = #slurp
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parents:
diff changeset
278 #try
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parents:
diff changeset
279 $ref_dict['ig_gene_sources']
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parents:
diff changeset
280 #except
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parents:
diff changeset
281 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene
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parents:
diff changeset
282 #end try
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parents:
diff changeset
283 rrna_gene_sources = #slurp
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parents:
diff changeset
284 #try
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parents:
diff changeset
285 $ref_dict['rrna_gene_sources']
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parents:
diff changeset
286 #except
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parents:
diff changeset
287 Mt_rRNA,rRNA,rRNA_pseudogene
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parents:
diff changeset
288 #end try
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parents:
diff changeset
289
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parents:
diff changeset
290 # Blat sequences per job
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parents:
diff changeset
291 num_blat_sequences = #slurp
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parents:
diff changeset
292 #try
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
293 $ref_dict['num_blat_sequences']
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parents:
diff changeset
294 #except
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parents:
diff changeset
295 10000
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parents:
diff changeset
296 #end try
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parents:
diff changeset
297
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parents:
diff changeset
298 # Minimum gene fusion range
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parents:
diff changeset
299 dna_concordant_length = #slurp
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parents:
diff changeset
300 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.dna_concordant_length.__str__ != "":
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parents:
diff changeset
301 $refGenomeSource.defuse_param.dna_concordant_length
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parents:
diff changeset
302 #else
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parents:
diff changeset
303 #try
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
304 $ref_dict['dna_concordant_length']
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parents:
diff changeset
305 #except
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parents:
diff changeset
306 2000
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parents:
diff changeset
307 #end try
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parents:
diff changeset
308 #end if
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parents:
diff changeset
309
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parents:
diff changeset
310 # Trim length for discordant reads (split reads are not trimmed)
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parents:
diff changeset
311 discord_read_trim = #slurp
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parents:
diff changeset
312 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.discord_read_trim.__str__ != "":
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parents:
diff changeset
313 $refGenomeSource.defuse_param.discord_read_trim
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parents:
diff changeset
314 #else
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parents:
diff changeset
315 #try
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parents:
diff changeset
316 $ref_dict['discord_read_trim']
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parents:
diff changeset
317 #except
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parents:
diff changeset
318 50
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parents:
diff changeset
319 #end try
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parents:
diff changeset
320 #end if
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parents:
diff changeset
321
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parents:
diff changeset
322 # Filtering parameters
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parents:
diff changeset
323 clustering_precision = #slurp
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parents:
diff changeset
324 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.clustering_precision.__str__ != ""
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parents:
diff changeset
325 $refGenomeSource.defuse_param.clustering_precision
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parents:
diff changeset
326 #else
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parents:
diff changeset
327 #try
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parents:
diff changeset
328 $ref_dict['clustering_precision']
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parents:
diff changeset
329 #except
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parents:
diff changeset
330 0.95
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parents:
diff changeset
331 #end try
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parents:
diff changeset
332 #end if
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parents:
diff changeset
333 span_count_threshold = #slurp
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parents:
diff changeset
334 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.span_count_threshold.__str__ != ""
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parents:
diff changeset
335 $refGenomeSource.defuse_param.span_count_threshold
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parents:
diff changeset
336 #else
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parents:
diff changeset
337 #try
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
338 $ref_dict['span_count_threshold']
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parents:
diff changeset
339 #except
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parents:
diff changeset
340 5
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parents:
diff changeset
341 #end try
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parents:
diff changeset
342 #end if
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parents:
diff changeset
343 split_count_threshold = #slurp
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parents:
diff changeset
344 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.split_count_threshold.__str__ != ""
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parents:
diff changeset
345 $refGenomeSource.defuse_param.split_count_threshold
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parents:
diff changeset
346 #else
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parents:
diff changeset
347 #try
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parents:
diff changeset
348 $ref_dict['split_count_threshold']
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parents:
diff changeset
349 #except
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parents:
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350 3
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351 #end try
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parents:
diff changeset
352 #end if
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diff changeset
353 percent_identity_threshold = #slurp
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354 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.percent_identity_threshold.__str__ != ""
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parents:
diff changeset
355 $refGenomeSource.defuse_param.percent_identity_threshold
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parents:
diff changeset
356 #else
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parents:
diff changeset
357 #try
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parents:
diff changeset
358 $ref_dict['percent_identity_threshold']
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parents:
diff changeset
359 #except
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parents:
diff changeset
360 0.90
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parents:
diff changeset
361 #end try
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parents:
diff changeset
362 #end if
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parents:
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363 max_dist_pos = #slurp
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parents:
diff changeset
364 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_dist_pos.__str__ != ""
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parents:
diff changeset
365 $refGenomeSource.defuse_param.max_dist_pos
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parents:
diff changeset
366 #else
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parents:
diff changeset
367 #try
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parents:
diff changeset
368 $ref_dict['max_dist_pos']
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parents:
diff changeset
369 #except
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370 600
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parents:
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371 #end try
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parents:
diff changeset
372 #end if
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parents:
diff changeset
373 num_dist_genes = #slurp
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374 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.num_dist_genes.__str__ != ""
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parents:
diff changeset
375 $refGenomeSource.defuse_param.num_dist_genes
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parents:
diff changeset
376 #else
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parents:
diff changeset
377 #try
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parents:
diff changeset
378 $ref_dict['num_dist_genes']
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parents:
diff changeset
379 #except
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380 500
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381 #end try
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parents:
diff changeset
382 #end if
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parents:
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383 split_min_anchor = #slurp
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parents:
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384 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.split_min_anchor.__str__ != ""
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parents:
diff changeset
385 $refGenomeSource.defuse_param.split_min_anchor
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parents:
diff changeset
386 #else
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parents:
diff changeset
387 #try
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parents:
diff changeset
388 $ref_dict['split_min_anchor']
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parents:
diff changeset
389 #except
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parents:
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390 4
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391 #end try
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parents:
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392 #end if
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393 max_concordant_ratio = #slurp
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diff changeset
394 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_concordant_ratio.__str__ != ""
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parents:
diff changeset
395 $refGenomeSource.defuse_param.max_concordant_ratio
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parents:
diff changeset
396 #else
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parents:
diff changeset
397 #try
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parents:
diff changeset
398 $ref_dict['max_concordant_ratio']
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parents:
diff changeset
399 #except
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parents:
diff changeset
400 0.1
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parents:
diff changeset
401 #end try
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parents:
diff changeset
402 #end if
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parents:
diff changeset
403 splice_bias = #slurp
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parents:
diff changeset
404 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.splice_bias.__str__ != ""
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parents:
diff changeset
405 $refGenomeSource.defuse_param.splice_bias
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parents:
diff changeset
406 #else
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parents:
diff changeset
407 #try
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parents:
diff changeset
408 $ref_dict['splice_bias']
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parents:
diff changeset
409 #except
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parents:
diff changeset
410 10
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parents:
diff changeset
411 #end try
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parents:
diff changeset
412 #end if
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parents:
diff changeset
413 denovo_assembly = #slurp
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parents:
diff changeset
414 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.denovo_assembly.__str__ != ""
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parents:
diff changeset
415 $refGenomeSource.defuse_param.denovo_assembly
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parents:
diff changeset
416 #else
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parents:
diff changeset
417 #try
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parents:
diff changeset
418 $ref_dict['denovo_assembly']
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parents:
diff changeset
419 #except
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parents:
diff changeset
420 no
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parents:
diff changeset
421 #end try
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parents:
diff changeset
422 #end if
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parents:
diff changeset
423 probability_threshold = #slurp
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parents:
diff changeset
424 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.probability_threshold.__str__ != ""
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parents:
diff changeset
425 $refGenomeSource.defuse_param.probability_threshold
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parents:
diff changeset
426 #else
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parents:
diff changeset
427 #try
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parents:
diff changeset
428 $ref_dict['probability_threshold']
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parents:
diff changeset
429 #except
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parents:
diff changeset
430 0.50
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parents:
diff changeset
431 #end try
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parents:
diff changeset
432 #end if
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parents:
diff changeset
433 positive_controls = \$(data_directory)/controls.txt
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parents:
diff changeset
434
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parents:
diff changeset
435 # Position density when calculating covariance
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parents:
diff changeset
436 covariance_sampling_density = #slurp
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parents:
diff changeset
437 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.covariance_sampling_density.__str__ != ""
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parents:
diff changeset
438 $refGenomeSource.defuse_param.covariance_sampling_density
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
439 #else
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
440 #try
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parents:
diff changeset
441 $ref_dict['covariance_sampling_density']
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parents:
diff changeset
442 #except
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parents:
diff changeset
443 0.01
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parents:
diff changeset
444 #end try
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
445 #end if
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
446
36306d8086fa Remove defuse dir
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parents:
diff changeset
447
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parents:
diff changeset
448 # Number of reads for each job in split
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parents:
diff changeset
449 reads_per_job = 1000000
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parents:
diff changeset
450
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parents:
diff changeset
451 # Number of regions for each breakpoint sequence job in split
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parents:
diff changeset
452 regions_per_job = 20
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parents:
diff changeset
453
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parents:
diff changeset
454 #raw
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parents:
diff changeset
455 # If you have command line 'mail' and wish to be notified
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parents:
diff changeset
456 # mailto = andrew.mcpherson@gmail.com
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parents:
diff changeset
457
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parents:
diff changeset
458 # Remove temp files
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parents:
diff changeset
459 remove_job_files = yes
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parents:
diff changeset
460 remove_job_temp_files = yes
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parents:
diff changeset
461
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parents:
diff changeset
462 # Converting to fastq
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parents:
diff changeset
463 # Fastq converter config format 1 for reads stored in separate files for each end
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parents:
diff changeset
464 # data_lane_rexex_N is a perl regex which stores the lane id in $1
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parents:
diff changeset
465 # data_end_regex_N is a perl regex which stores the end, 1 or 2, in $1
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parents:
diff changeset
466 # data_compress_regex_N is a perl regex which stores the compression extension in $1
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parents:
diff changeset
467 # data_convert_N is the associated conversion utility that takes data at stdin and outputs fastq at stdout
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
468 # Fastq converter config format 2 for reads stored in separate files for each end
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parents:
diff changeset
469 # data_lane_regex_N is a perl regex which stores the lane id in $1
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parents:
diff changeset
470 # data_compress_regex_N is a perl regex which stores the compression extension in $1
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
471 # data_end1_converter_N is the associated conversion utility that takes data at stdin and outputs fastq for end 1 at stdout
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
472 # data_end2_converter_N is the associated conversion utility that takes data at stdin and outputs fastq for end 2 at stdout
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
473
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parents:
diff changeset
474 data_lane_regex_1 = ^(.+)_[12]_export\.txt.*$
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
475 data_end_regex_1 = ^.+_([12])_export\.txt.*$
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
476 data_compress_regex_1 = ^.+_[12]_export\.txt(.*)$
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
477 data_converter_1 = $(scripts_directory)/fq_all2std.pl export2std
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
478
36306d8086fa Remove defuse dir
Jim Johnson <jj@umn.edu>
parents:
diff changeset
479 data_lane_regex_2 = ^(.+)_[12]_concat_qseq\.txt.*$
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
480 data_end_regex_2 = ^.+_([12])_concat_qseq\.txt.*$
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parents:
diff changeset
481 data_compress_regex_2 = ^.+_[12]_concat_qseq\.txt(.*)$
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parents:
diff changeset
482 data_converter_2 = $(scripts_directory)/qseq2fastq.pl
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parents:
diff changeset
483
36306d8086fa Remove defuse dir
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parents:
diff changeset
484 data_lane_regex_3 = ^(.+)\.bam.*$
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parents:
diff changeset
485 data_compress_regex_3 = ^.+\.bam(.*)$
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
486 data_end1_converter_3 = samtools view - | filter_sam_mate.pl 1 | sam_to_fastq.pl
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parents:
diff changeset
487 data_end2_converter_3 = samtools view - | filter_sam_mate.pl 2 | sam_to_fastq.pl
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parents:
diff changeset
488
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
489 data_lane_regex_4 = ^(.+).[12].fastq.*$
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
490 data_end_regex_4 = ^.+.([12]).fastq.*$
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
491 data_compress_regex_4 = ^.+.[12].fastq(.*)$
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Jim Johnson <jj@umn.edu>
parents:
diff changeset
492 data_converter_4 = cat
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parents:
diff changeset
493 #end raw
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parents:
diff changeset
494
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parents:
diff changeset
495 #end if
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parents:
diff changeset
496
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parents:
diff changeset
497 </configfile>
3
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
498 <configfile name="shscript">
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parents: 2
diff changeset
499 #!/bin/bash
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parents: 2
diff changeset
500 ## define some things for cheetah proccessing
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
501 #set $ds = chr(36)
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
502 #set $gt = chr(62)
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
503 #set $lt = chr(60)
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
504 #set $echo_cmd = 'echo'
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
505 ## Find the defuse.pl in the galaxy tool path
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
506 #import Cheetah.FileUtils
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
507 #set $toolpath = '/'.join([$__root_dir__,'tools','defuse'])
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
508 #set $defuse = $Cheetah.FileUtils.findFiles($toolpath,['defuse.pl'],[],['tools','external','include','em','data'])[0]
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
509 #set $get_reads = $Cheetah.FileUtils.findFiles($toolpath,['get_reads.pl'],[],['tools','external','include','em','data'])[0]
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
510 ## declare a bash function for converting a results tsv into html with links to the get_reads output files
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
511 results2html() {
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
512 rlts=${ds}1
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
513 rslt_name=`basename ${ds}rlts`
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
514 html=${ds}2
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
515 echo '${lt}html${gt}${lt}head${gt}${lt}title${gt}Defuse '${ds}rslt_name'${lt}/title${gt}${lt}/head${gt}${lt}body${gt}' ${gt} ${ds}html
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
516 echo '${lt}h2${gt}Defuse '${ds}rslt_name'${lt}/h2${gt}${lt}table${gt}' ${gt}${gt} ${ds}html
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parents: 2
diff changeset
517 if [ -z "${ds}3" ]
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parents: 2
diff changeset
518 then
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Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
519 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");}\
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Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
520 ${ds}1 ~ /[1-9][0-9]*/{printf("${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} ${ds}html
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
521 echo '${lt}/table${gt}' ${gt}${gt} ${ds}html
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Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
522 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} ${ds}html
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
523 else
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
524 export _EFP=${ds}3
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
525 mkdir -p ${ds}_EFP
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
526 awk '${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");}\
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
527 ${ds}1 ~ /[1-9][0-9]*/{fn="cluster_"${ds}1"_reads.txt"; \
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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diff changeset
528 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} ${ds}html
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Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
529 echo '${lt}/table${gt}' ${gt}${gt} ${ds}html
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
530 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} ${ds}html
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
531 for i in `awk '${ds}1 ~ /[1-9][0-9]*/{print ${ds}1}' ${ds}rlts`;
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
532 do fn=cluster_${ds}{i}_reads.txt;
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parents: 2
diff changeset
533 pn=${ds}_EFP/${ds}fn;
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Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
534 perl $get_reads -c $defuse_config -o output_dir -i ${ds}i ${gt} ${ds}pn;
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parents: 2
diff changeset
535 done
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
536 fi
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
537 }
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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diff changeset
538 ## copy config to output
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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diff changeset
539 cp $defuse_config $config_txt
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
540 ## make a data_dir and ln -s the input fastq
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
541 mkdir -p data_dir
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
542 ln -s $left_pairendreads data_dir/reads_1.fastq
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
543 ln -s $right_pairendreads data_dir/reads_2.fastq
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
544 ## ln to output_dir in from_work_dir
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parents: 2
diff changeset
545 #if $defuse_out.__str__ != 'None':
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parents: 2
diff changeset
546 mkdir -p $defuse_out.extra_files_path
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Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
547 ln -s $defuse_out.extra_files_path output_dir
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
548 #else
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
549 mkdir -p output_dir
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
550 #end if
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
551 ## run defuse.pl
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
552 perl $defuse -c $defuse_config -d data_dir -o output_dir -p 8
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
553 ## copy primary results to output datasets
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parents: 2
diff changeset
554 if [ -e output_dir/log/defuse.log ]; then cp output_dir/log/defuse.log $defuse_log; fi
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
555 if [ -e output_dir/results.tsv ]; then cp output_dir/results.tsv $results_tsv; fi
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
556 if [ -e output_dir/results.filtered.tsv ]; then cp output_dir/results.filtered.tsv $results_filtered_tsv; fi
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
557 if [ -e output_dir/results.classify.tsv ]; then cp output_dir/results.classify.tsv $results_classify_tsv; fi
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
558 ## create html with links for output_dir
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
559 #if $defuse_out.__str__ != 'None':
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
560 if [ -e $defuse_out ]
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parents: 2
diff changeset
561 then
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diff changeset
562 echo '${lt}html${gt}${lt}head${gt}${lt}title${gt}Defuse Output${lt}/title${gt}${lt}/head${gt}${lt}body${gt}' ${gt} $defuse_out
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
563 echo '${lt}h2${gt}Defuse Output Files${lt}/h2${gt}${lt}ul${gt}' ${gt}${gt} $defuse_out
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
564 pushd $defuse_out.extra_files_path
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
565 for f in `find -L . -maxdepth 1 -type f`;
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
566 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} $defuse_out;
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
567 done
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
568 popd
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Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
569 echo '${lt}/ul${gt}' ${gt}${gt} $defuse_out
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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570 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} $defuse_out
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
571 fi
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
572 #end if
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parents: 2
diff changeset
573 ## run get_reads.pl on each cluster
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parents: 2
diff changeset
574 #if $fusion_reads.__str__ != 'None':
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575 if [ -e output_dir/results.filtered.tsv -a -e $fusion_reads ]
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
576 then
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
577 mkdir -p $fusion_reads.extra_files_path
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
578 results2html output_dir/results.filtered.tsv $fusion_reads $fusion_reads.extra_files_path
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Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
579 fi
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parents: 2
diff changeset
580 #end if
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parents: 2
diff changeset
581 </configfile>
1
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parents:
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582 </configfiles>
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parents:
diff changeset
583 <outputs>
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584 <data format="txt" name="config_txt" label="${tool.name} on ${on_string}: config.txt"/>
3
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
585 <data format="txt" name="defuse_log" label="${tool.name} on ${on_string}: defuse.log" />
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parents: 2
diff changeset
586 <data format="html" name="defuse_out" label="${tool.name} on ${on_string}: defuse_output">
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
587 <filter>keep_output == True</filter>
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
588 </data>
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
589 <data format="html" name="fusion_reads" label="${tool.name} on ${on_string}: fusion_reads">
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
590 <filter>do_get_reads == True</filter>
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
591 </data>
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
592 <data format="tabular" name="results_tsv" label="${tool.name} on ${on_string}: results.tsv" />
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
Jim Johnson <jj@umn.edu>
parents: 2
diff changeset
593 <data format="tabular" name="results_filtered_tsv" label="${tool.name} on ${on_string}: results.filtered.tsv" />
c90022a13c7c DeFuse - Allow user to save the workspace, create an html file with links to the files in the workspace.
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parents: 2
diff changeset
594 <data format="tabular" name="results_classify_tsv" label="${tool.name} on ${on_string}: results.classify.tsv" />
1
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parents:
diff changeset
595 </outputs>
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parents:
diff changeset
596 <tests>
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diff changeset
597 </tests>
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parents:
diff changeset
598 <help>
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diff changeset
599 **DeFuse**
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600
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parents:
diff changeset
601 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.
36306d8086fa Remove defuse dir
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602
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diff changeset
603 Journal reference: http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1001138
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604
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parents:
diff changeset
605 .. _DeFuse: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=Main_Page
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parents:
diff changeset
606
36306d8086fa Remove defuse dir
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parents:
diff changeset
607 ------
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parents:
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608
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parents:
diff changeset
609 **Inputs**
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610
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parents:
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611 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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612
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613 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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614
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diff changeset
615 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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parents:
diff changeset
616 - genome_fasta from Ensembl
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617 - gene_models from Ensembl
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618 - repeats_filename from UCSC RepeatMasker rmsk.txt
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parents:
diff changeset
619 - est_fasta from UCSC
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parents:
diff changeset
620 - est_alignments from UCSC intronEst.txt
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diff changeset
621 - unigene_fasta from NCBI
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622
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parents:
diff changeset
623 .. _DeFuse_Version_0.4: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=DeFuse_Version_0.4.2
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624
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parents:
diff changeset
625 ------
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626
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parents:
diff changeset
627 **Outputs**
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parents:
diff changeset
628
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diff changeset
629 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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630
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diff changeset
631 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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632
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parents:
diff changeset
633 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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parents:
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634
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635 - **Identification**
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diff changeset
636 - cluster_id : random identifier assigned to each prediction
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637 - library_name : library name given on the command line of defuse
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638 - gene1 : ensembl id of gene 1
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639 - gene2 : ensembl id of gene 2
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640 - gene_name1 : name of gene 1
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641 - gene_name2 : name of gene 2
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642 - **Evidence**
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643 - break_predict : breakpoint prediction method, denovo or splitr, that is considered most reliable
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644 - concordant_ratio : proportion of spanning reads considered concordant by blat
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645 - denovo_min_count : minimum kmer count across denovo assembled sequence
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646 - denovo_sequence : fusion sequence predicted by debruijn based denovo sequence assembly
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647 - denovo_span_pvalue : p-value, lower values are evidence the prediction is a false positive
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648 - gene_align_strand1 : alignment strand for spanning read alignments to gene 1
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649 - gene_align_strand2 : alignment strand for spanning read alignments to gene 2
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650 - min_map_count : minimum of the number of genomic mappings for each spanning read
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651 - max_map_count : maximum of the number of genomic mappings for each spanning read
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652 - mean_map_count : average of the number of genomic mappings for each spanning read
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653 - num_multi_map : number of spanning reads that map to more than one genomic location
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654 - span_count : number of spanning reads supporting the fusion
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655 - span_coverage1 : coverage of spanning reads aligned to gene 1 as a proportion of expected coverage
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656 - span_coverage2 : coverage of spanning reads aligned to gene 2 as a proportion of expected coverage
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657 - span_coverage_min : minimum of span_coverage1 and span_coverage2
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658 - span_coverage_max : maximum of span_coverage1 and span_coverage2
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659 - splitr_count : number of split reads supporting the prediction
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660 - splitr_min_pvalue : p-value, lower values are evidence the prediction is a false positive
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661 - splitr_pos_pvalue : p-value, lower values are evidence the prediction is a false positive
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662 - splitr_sequence : fusion sequence predicted by split reads
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663 - splitr_span_pvalue : p-value, lower values are evidence the prediction is a false positive
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664 - **Annotation**
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665 - adjacent : fusion between adjacent genes
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666 - altsplice : fusion likely the product of alternative splicing between adjacent genes
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667 - break_adj_entropy1 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 1
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668 - break_adj_entropy2 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 2
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669 - break_adj_entropy_min : minimum of break_adj_entropy1 and break_adj_entropy2
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670 - breakpoint_homology : number of nucleotides at the fusion splice that align equally well to gene 1 or gene 2
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671 - breakseqs_estislands_percident : maximum percent identity of fusion sequence alignments to est islands
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672 - cdna_breakseqs_percident : maximum percent identity of fusion sequence alignments to cdna
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673 - deletion : fusion produced by a genomic deletion
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674 - est_breakseqs_percident : maximum percent identity of fusion sequence alignments to est
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675 - eversion : fusion produced by a genomic eversion
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676 - exonboundaries : fusion splice at exon boundaries
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677 - expression1 : expression of gene 1 as number of concordant pairs aligned to exons
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678 - expression2 : expression of gene 2 as number of concordant pairs aligned to exons
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679 - gene_chromosome1 : chromosome of gene 1
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680 - gene_chromosome2 : chromosome of gene 2
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681 - gene_end1 : end position for gene 1
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682 - gene_end2 : end position for gene 2
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683 - gene_location1 : location of breakpoint in gene 1
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684 - gene_location2 : location of breakpoint in gene 2
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685 - gene_start1 : start of gene 1
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686 - gene_start2 : start of gene 2
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687 - gene_strand1 : strand of gene 1
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688 - gene_strand2 : strand of gene 2
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689 - genome_breakseqs_percident : maximum percent identity of fusion sequence alignments to genome
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690 - genomic_break_pos1 : genomic position in gene 1 of fusion splice / breakpoint
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691 - genomic_break_pos2 : genomic position in gene 2 of fusion splice / breakpoint
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692 - genomic_strand1 : genomic strand in gene 1 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream
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693 - genomic_strand2 : genomic strand in gene 2 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream
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694 - interchromosomal : fusion produced by an interchromosomal translocation
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695 - interrupted_index1 : ratio of coverage before and after the fusion splice / breakpoint in gene 1
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696 - interrupted_index2 : ratio of coverage before and after the fusion splice / breakpoint in gene 2
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697 - inversion : fusion produced by genomic inversion
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698 - orf : fusion combines genes in a way that preserves a reading frame
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699 - probability : probability produced by classification using adaboost and example positives/negatives (only given in results.classified.txt)
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700 - read_through : fusion involving adjacent potentially resulting from co-transcription rather than genome rearrangement
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701 - repeat_proportion1 : proportion of the spanning reads in gene 1 that span a repeat region
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702 - repeat_proportion2 : proportion of the spanning reads in gene 2 that span a repeat region
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703 - max_repeat_proportion : max of repeat_proportion1 and repeat_proportion2
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704 - splice_score : number of nucleotides similar to GTAG at fusion splice
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705 - num_splice_variants : number of potential splice variants for this gene pair
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706 - 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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707 - 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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708
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709
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710 **Example**
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711
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712 results.tsv::
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713
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714 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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715 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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716 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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717
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718 </help>
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719 </tool>