annotate defuse.xml @ 44:225750bf3770 draft

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author jjohnson
date Mon, 04 Jan 2016 15:55:00 -0500
parents a004033614d4
children aedaa66483f1
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1 <tool id="defuse" name="DeFuse" version="@DEFUSE_VERSION@.1">
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2 <description>identify fusion transcripts</description>
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3 <macros>
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4 <import>macros.xml</import>
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5 </macros>
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6 <requirements>
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7 <expand macro="defuse_requirement" />
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8 <expand macro="mapping_requirements" />
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9 <expand macro="r_requirements" />
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10 </requirements>
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11 <command interpreter="command"> /bin/bash $shscript </command>
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12 <inputs>
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13 <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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14 <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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15 <param name="library_name" type="text" value="unknown" label="library name" help="Value to put in the results library_name column">
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16 <validator type="length" min="1"/>
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17 </param>
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18 <conditional name="refGenomeSource">
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19 <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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20 <option value="indexed">Use a built-in DeFuse Reference Dataset</option>
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21 <option value="history">Use a configuration from your history that specifies the DeFuse Reference Dataset</option>
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22 </param>
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23 <when value="indexed">
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24 <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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25 <options from_file="defuse_reference.loc">
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26 <column name="name" index="1"/>
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27 <column name="value" index="3"/>
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28 <filter type="sort_by" column="0" />
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29 <validator type="no_options" message="No indexes are available" />
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30 </options>
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31 </param>
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32 </when>
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33 <when value="history">
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34 <param name="config" type="data" format="defuse.conf" label="Defuse Config file" help=""/>
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35 </when> <!-- history -->
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36 </conditional> <!-- refGenomeSource -->
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37 <conditional name="defuse_param">
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38 <param name="settings" type="select" label="Defuse parameter settings" help="">
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39 <option value="preSet">Default settings</option>
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40 <option value="full">Full parameter list</option>
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41 </param>
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42 <when value="preSet" />
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43 <when value="full">
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44 <param name="max_insert_size" type="integer" value="500" optional="true" label="Bowtie max_insert_size" />
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45 <param name="dna_concordant_length" type="integer" value="2000" optional="true" label="Minimum gene fusion range dna_concordant_length" />
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46 <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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47 <param name="calculate_extra_annotations" type="select" label="Calculate extra annotations, fusion splice index and interrupted index" help="">
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48 <option value="">Use Default</option>
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49 <option value="no">no</option>
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50 <option value="yes">yes</option>
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51 </param>
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52 <param name="clustering_precision" type="float" value=".95" optional="true" label="Filter clustering_precision">
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53 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/>
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54 </param>
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55 <param name="span_count_threshold" type="integer" value="5" optional="true" label="Filter span_count_threshold" />
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56 <param name="percent_identity_threshold" type="float" value=".90" optional="true" label="Filter percent_identity_threshold">
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57 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/>
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58 </param>
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59 <param name="split_min_anchor" type="integer" value="4" optional="true" label="Filter split_min_anchor" />
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60 <param name="splice_bias" type="integer" value="10" optional="true" label="Filter splice_bias" />
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61 <param name="probability_threshold" type="float" value="0.50" optional="true" label="Filter probability_threshold">
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62 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/>
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63 </param>
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64 <param name="covariance_sampling_density" type="float" value="0.01" optional="true" label="covariance_sampling_density">
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65 <help>Position density when calculating covariance</help>
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66 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/>
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67 </param>
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68 <param name="denovo_assembly" type="select" label="denovo_assembly" help="">
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69 <option value="">Use Default</option>
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70 <option value="no">no</option>
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71 <option value="yes">yes</option>
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72 </param>
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73 <!--
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74 <param name="positive_controls" type="data" format="txt" optional=true label="Defuse positive_controls" help=""/>
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75 -->
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76 <param name="reads_per_job" type="integer" value="1000000" optional="true" label="Number of reads for each job in split" />
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77 </when> <!-- full -->
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78 </conditional> <!-- defuse_param -->
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79 <param name="breakpoints_bam" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Generate a Bam file for the fusions"/>
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80 <param name="keep_output" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Save DeFuse working directory files"
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81 help="The defuse output working directory can be helpful for determining errors that may have occurred during the run,
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82 but they require considerable diskspace, and should be deleted and purged when no longer needed."/>
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83 <param name="do_get_reads" type="boolean" checked="false" truevalue="yes" falsevalue="no" label="Run get_reads on each cluster"/>
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84 </inputs>
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85 <stdio>
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86 <exit_code range="1:" level="fatal" description="Error Running Defuse" />
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87 </stdio>
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88 <outputs>
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89 <data format="txt" name="config_txt" label="${tool.name} on ${on_string}: config.txt"/>
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90 <data format="txt" name="defuse_log" label="${tool.name} on ${on_string}: defuse.log" />
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91 <data format="html" name="defuse_out" label="${tool.name} on ${on_string}: defuse_output (purge when no longer needed)">
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92 <filter>keep_output == True</filter>
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93 </data>
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94 <data format="defuse.results.tsv" name="results_classify_tsv" label="${tool.name} on ${on_string}: results.classify.tsv" />
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95 <data format="defuse.results.tsv" name="results_filtered_tsv" label="${tool.name} on ${on_string}: results.filtered.tsv" />
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96 <data format="html" name="fusion_reads" label="${tool.name} on ${on_string}: fusion_reads">
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97 <filter>do_get_reads == True</filter>
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98 </data>
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99 <data format="bam" name="fusions_bam" label="${tool.name} on ${on_string}: fusions.bam">
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100 <filter>breakpoints_bam == True</filter>
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101 </data>
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102 <!--
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103 expression_plot
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104 circos plot
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105 -->
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106 </outputs>
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107 <configfiles>
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108 <configfile name="defuse_config">
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109 #import re
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110 #set $ds = chr(36)
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111 #if $refGenomeSource.genomeSource == "history":
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112 #set config_file = $refGenomeSource.config.__str__
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113 #else
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114 #set config_file = $refGenomeSource.index.value
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115 #end if
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116 #set pat = '^\s*([^#=][^=]*?)\s*=\s*(.*?)\s*$'
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117 #set fh = open($config_file)
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118 #set keys = ['dataset_directory','ensembl_organism','ensembl_prefix','ensembl_version','ensembl_genome_version','ucsc_genome_version','ncbi_organism','ncbi_prefix','chromosomes','mt_chromosome','gene_sources','ig_gene_sources','rrna_gene_sources']
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119 #set kv = []
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120 #for $line in $fh:
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121 #set m = $re.match($pat,$line)
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122 #if $m and len($m.groups()) == 2:
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123 ## #echo $line
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124 #if $m.groups()[0] in keys:
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125 #set k = $m.groups()[0]
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126 #if k == 'dataset_directory' and $refGenomeSource.genomeSource == "indexed":
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127 ## The DataManager is conifgured to place the config file in the same directory as the defuse_data: dataset_directory
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128 #set v = $os.path.dirname($config_file)
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129 #else:
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130 #set v = $m.groups()[1]
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131 #end if
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132 #set kv = $kv + [[$k, $v]]
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133 #end if
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134 #end if
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135 #end for
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136 ## #echo $kv
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137 #set ref_dict = dict($kv)
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138 ## #echo $ref_dict
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139 ## include raw $refGenomeSource.config.__str__
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140 #
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141 # Configuration file for defuse
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142 #
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143 # At a minimum, change all values enclused by []
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144 #
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145
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146 # Directory where the defuse code was unpacked
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147 ## Default location in the tool/defuse directory
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148 # source_directory = ${__root_dir__}/tools/defuse
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149 source_directory = __DEFUSE_PATH__
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150
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151 # Directory where you want your dataset
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152 dataset_directory = #slurp
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153 #try
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154 $ref_dict['dataset_directory']
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155 #except
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156 /project/db/genomes/Hsapiens/hg19/defuse
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157 #end try
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158
22
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159 # Organism IDs
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160 ensembl_organism = #slurp
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161 #try
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162 $ref_dict['ensembl_organism']
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163 #except
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164 homo_sapiens
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165 #end try
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166
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167 ensembl_prefix = #slurp
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168 #try
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169 $ref_dict['ensembl_prefix']
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170 #except
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171 Homo_sapiens
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172 #end try
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173
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174 ensembl_version = #slurp
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175 #try
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176 $ref_dict['ensembl_version']
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177 #except
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178 71
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179 #end try
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180
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181 ensembl_genome_version = #slurp
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182 #try
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183 $ref_dict['ensembl_genome_version']
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184 #except
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185 GRCh37
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186 #end try
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187
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188 ucsc_genome_version = #slurp
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189 #try
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190 $ref_dict['ucsc_genome_version']
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191 #except
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192 hg19
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193 #end try
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194
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195 ncbi_organism = #slurp
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196 #try
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197 $ref_dict['ncbi_organism']
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198 #except
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199 Homo_sapiens
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200 #end try
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201
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202 ncbi_prefix = #slurp
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203 #try
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204 $ref_dict['ncbi_prefix']
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205 #except
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206 Hs
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207 #end try
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208
0
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209 # Input genome and gene models
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210 gene_models = #slurp
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211 #try
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212 $ref_dict['gene_models']
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213 #except
22
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214 \$(dataset_directory)/\$(ensembl_prefix).\$(ensembl_genome_version).\$(ensembl_version).gtf
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215 #end try
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216 genome_fasta = #slurp
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217 #try
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218 $ref_dict['genome_fasta']
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219 #except
22
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220 \$(dataset_directory)/\$(ensembl_prefix).\$(ensembl_genome_version).\$(ensembl_version).dna.chromosomes.fa
0
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221 #end try
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222
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223 # Repeat table from ucsc genome browser
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224 repeats_filename = #slurp
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225 #try
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226 $ref_dict['repeats_filename']
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227 #except
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228 \$(dataset_directory)/rmsk.txt
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229 #end try
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230
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231 # EST info downloaded from ucsc genome browser
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232 est_fasta = #slurp
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233 #try
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234 $ref_dict['est_fasta']
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235 #except
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236 \$(dataset_directory)/est.fa
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237 #end try
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238 est_alignments = #slurp
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239 #try
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240 $ref_dict['est_alignments']
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241 #except
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242 \$(dataset_directory)/intronEst.txt
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243 #end try
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244
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245 # Unigene clusters downloaded from ncbi
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246 unigene_fasta = #slurp
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247 #try
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248 $ref_dict['unigene_fasta']
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249 #except
23
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250 \$(dataset_directory)/\$(ncbi_prefix).seq.uniq
0
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251 #end try
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252
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253 # Paths to external tools
19
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diff changeset
254 bowtie_bin = __BOWTIE_BIN__
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diff changeset
255 bowtie_build_bin = __BOWTIE_BUILD_BIN__
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diff changeset
256 blat_bin = __BLAT_BIN__
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diff changeset
257 fatotwobit_bin = __FATOTWOBIT_BIN__
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diff changeset
258 gmap_bin = __GMAP_BIN__
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diff changeset
259 gmap_bin = __GMAP_BIN__
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diff changeset
260 gmap_setup_bin = __GMAP_SETUP_BIN__
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diff changeset
261 r_bin = __R_BIN__
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diff changeset
262 rscript_bin = __RSCRIPT_BIN__
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263
7
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parents: 6
diff changeset
264 # Directory where you want your dataset
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parents: 6
diff changeset
265 gmap_index_directory = #slurp
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parents: 6
diff changeset
266 #try
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parents: 6
diff changeset
267 $ref_dict['gmap_index_directory']
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parents: 6
diff changeset
268 #except
12
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269 #raw
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diff changeset
270 $(dataset_directory)/gmap
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diff changeset
271 #end raw
7
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parents: 6
diff changeset
272 #end try
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parents: 6
diff changeset
273
0
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274 #raw
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275 # Dataset files
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276 dataset_prefix = $(dataset_directory)/defuse
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277 chromosome_prefix = $(dataset_prefix).dna.chromosomes
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diff changeset
278 exons_fasta = $(dataset_prefix).exons.fa
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diff changeset
279 cds_fasta = $(dataset_prefix).cds.fa
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diff changeset
280 cdna_regions = $(dataset_prefix).cdna.regions
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diff changeset
281 cdna_fasta = $(dataset_prefix).cdna.fa
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diff changeset
282 reference_fasta = $(dataset_prefix).reference.fa
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283 rrna_fasta = $(dataset_prefix).rrna.fa
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diff changeset
284 ig_gene_list = $(dataset_prefix).ig.gene.list
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diff changeset
285 repeats_regions = $(dataset_directory)/repeats.regions
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diff changeset
286 est_split_fasta1 = $(dataset_directory)/est.1.fa
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287 est_split_fasta2 = $(dataset_directory)/est.2.fa
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288 est_split_fasta3 = $(dataset_directory)/est.3.fa
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289 est_split_fasta4 = $(dataset_directory)/est.4.fa
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290 est_split_fasta5 = $(dataset_directory)/est.5.fa
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291 est_split_fasta6 = $(dataset_directory)/est.6.fa
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292 est_split_fasta7 = $(dataset_directory)/est.7.fa
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293 est_split_fasta8 = $(dataset_directory)/est.8.fa
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diff changeset
294 est_split_fasta9 = $(dataset_directory)/est.9.fa
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diff changeset
295
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diff changeset
296 # Fasta files with bowtie indices for prefiltering reads for concordantly mapping pairs
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diff changeset
297 prefilter1 = $(unigene_fasta)
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diff changeset
298
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diff changeset
299 # deFuse scripts and tools
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diff changeset
300 scripts_directory = $(source_directory)/scripts
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diff changeset
301 tools_directory = $(source_directory)/tools
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diff changeset
302 data_directory = $(source_directory)/data
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303 #end raw
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diff changeset
304
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305 # Path to samtools, 0.1.8 is compiled for you, use other versions at your own risk
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diff changeset
306 samtools_bin = #slurp
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diff changeset
307 #try
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diff changeset
308 $ref_dict['samtools_bin']
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diff changeset
309 #except
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diff changeset
310 \$(source_directory)/external/samtools-0.1.8/samtools
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311 #end try
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312
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diff changeset
313 # Bowtie parameters
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diff changeset
314 bowtie_threads = #slurp
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diff changeset
315 #try
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diff changeset
316 $ref_dict['bowtie_threads']
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diff changeset
317 #except
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diff changeset
318 4
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diff changeset
319 #end try
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diff changeset
320 bowtie_quals = #slurp
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diff changeset
321 #try
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diff changeset
322 $ref_dict['bowtie_quals']
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diff changeset
323 #except
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diff changeset
324 --phred33-quals
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325 #end try
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diff changeset
326 max_insert_size = #slurp
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diff changeset
327 #if $defuse_param.settings == "full" and $defuse_param.max_insert_size.__str__ != "":
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
328 $defuse_param.max_insert_size
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
329 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
330 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
331 $ref_dict['max_insert_size']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
332 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
333 500
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
334 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
335 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
336
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
337 # Parameters for building the dataset
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
338 chromosomes = #slurp
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
339 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
340 $ref_dict.chromosomes
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
341 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
342 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
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
343 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
344 mt_chromosome = #slurp
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
345 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
346 $ref_dict['mt_chromosome']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
347 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
348 MT
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
349 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
350 gene_sources = #slurp
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
351 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
352 $ref_dict['gene_sources']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
353 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
354 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
355 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
356 ig_gene_sources = #slurp
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
357 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
358 $ref_dict['ig_gene_sources']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
359 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
360 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
361 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
362 rrna_gene_sources = #slurp
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
363 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
364 $ref_dict['rrna_gene_sources']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
365 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
366 Mt_rRNA,rRNA,rRNA_pseudogene
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
367 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
368
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
369 # Blat sequences per job
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jjohnson
parents:
diff changeset
370 num_blat_sequences = #slurp
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
371 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
372 $ref_dict['num_blat_sequences']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
373 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
374 10000
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
375 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
376
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
377 # Minimum gene fusion range
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jjohnson
parents:
diff changeset
378 dna_concordant_length = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
379 #if $defuse_param.settings == "full" and $defuse_param.dna_concordant_length.__str__ != "":
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
380 $defuse_param.dna_concordant_length
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
381 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
382 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
383 $ref_dict['dna_concordant_length']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
384 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
385 2000
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
386 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
387 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
388
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
389 # Trim length for discordant reads (split reads are not trimmed)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
390 discord_read_trim = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
391 #if $defuse_param.settings == "full" and $defuse_param.discord_read_trim.__str__ != "":
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
392 $defuse_param.discord_read_trim
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
393 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
394 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
395 $ref_dict['discord_read_trim']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
396 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
397 50
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
398 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
399 #end if
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
400 # Calculate extra annotations, fusion splice index and interrupted index
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
401 calculate_extra_annotations = #slurp
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
402 #if $defuse_param.settings == "full" and $defuse_param.calculate_extra_annotations.__str__ != "":
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
403 $defuse_param.calculate_extra_annotations
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
404 #else
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
405 #try
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
406 $ref_dict['calculate_extra_annotations']
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
407 #except
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
408 no
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
409 #end try
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
410 #end if
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
411 # Filtering parameters
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
412 clustering_precision = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
413 #if $defuse_param.settings == "full" and $defuse_param.clustering_precision.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
414 $defuse_param.clustering_precision
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
415 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
416 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
417 $ref_dict['clustering_precision']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
418 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
419 0.95
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
420 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
421 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
422 span_count_threshold = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
423 #if $defuse_param.settings == "full" and $defuse_param.span_count_threshold.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
424 $defuse_param.span_count_threshold
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
425 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
426 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
427 $ref_dict['span_count_threshold']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
428 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
429 5
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
430 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
431 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
432 percent_identity_threshold = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
433 #if $defuse_param.settings == "full" and $defuse_param.percent_identity_threshold.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
434 $defuse_param.percent_identity_threshold
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
435 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
436 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
437 $ref_dict['percent_identity_threshold']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
438 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
439 0.90
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
440 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
441 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
442 split_min_anchor = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
443 #if $defuse_param.settings == "full" and $defuse_param.split_min_anchor.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
444 $defuse_param.split_min_anchor
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
445 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
446 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
447 $ref_dict['split_min_anchor']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
448 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
449 4
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
450 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
451 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
452 splice_bias = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
453 #if $defuse_param.settings == "full" and $defuse_param.splice_bias.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
454 $defuse_param.splice_bias
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
455 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
456 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
457 $ref_dict['splice_bias']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
458 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
459 10
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
460 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
461 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
462 denovo_assembly = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
463 #if $defuse_param.settings == "full" and $defuse_param.denovo_assembly.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
464 $defuse_param.denovo_assembly
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
465 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
466 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
467 $ref_dict['denovo_assembly']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
468 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
469 no
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
470 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
471 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
472 probability_threshold = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
473 #if $defuse_param.settings == "full" and $defuse_param.probability_threshold.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
474 $defuse_param.probability_threshold
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
475 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
476 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
477 $ref_dict['probability_threshold']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
478 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
479 0.50
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
480 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
481 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
482 positive_controls = \$(data_directory)/controls.txt
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
483
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
484 # Position density when calculating covariance
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
485 covariance_sampling_density = #slurp
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
486 #if $defuse_param.settings == "full" and $defuse_param.covariance_sampling_density.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
487 $defuse_param.covariance_sampling_density
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
488 #else
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
489 #try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
490 $ref_dict['covariance_sampling_density']
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
491 #except
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
492 0.01
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
493 #end try
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
494 #end if
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
495 # Number of reads for each job in split
19
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
496 reads_per_job = #slurp
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
497 #if $defuse_param.settings == "full" and $defuse_param.reads_per_job.__str__ != ""
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
498 $defuse_param.reads_per_job
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
499 #else
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
500 #try
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
501 $ref_dict['reads_per_job']
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
502 #except
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
503 1000000
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
504 #end try
1af6f32ff592 Add datamanager, move to defuse_reference.loc
Jim Johnson <jj@umn.edu>
parents: 18
diff changeset
505 #end if
0
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
506
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
507 #raw
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
508 # If you have command line 'mail' and wish to be notified
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
509 # mailto = andrew.mcpherson@gmail.com
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
510
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
511 # Remove temp files
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
512 remove_job_files = yes
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
513 remove_job_temp_files = yes
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
514
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
515 #end raw
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
516
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
517
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
518 </configfile>
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
519 <configfile name="shscript">
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
520 #!/bin/bash
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
521 ## define some things for cheetah proccessing
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
522 #set $ds = chr(36)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
523 #set $amp = chr(38)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
524 #set $gt = chr(62)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
525 #set $lt = chr(60)
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
526 #set $echo_cmd = 'echo'
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
527 ## Find the defuse.pl in the galaxy tool path
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
528 #import Cheetah.FileUtils
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
529 ## declare a bash function for converting a results tsv into html with links to the get_reads output files
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
530 results2html() {
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
531 rlts=${ds}1
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
532 rslt_name=`basename ${ds}rlts`
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
533 html=${ds}2
b75ea9927793 Uploaded
jjohnson
parents:
diff changeset
534 echo '${lt}html${gt}${lt}head${gt}${lt}title${gt}Defuse '${ds}rslt_name'${lt}/title${gt}${lt}/head${gt}${lt}body${gt}' ${gt} ${ds}html
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535 echo '${lt}h2${gt}Defuse '${ds}rslt_name'${lt}/h2${gt}${lt}table${gt}' ${gt}${gt} ${ds}html
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536 if [ -z "${ds}3" ]
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537 then
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538 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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539 ${ds}1 ~ /[1-9][0-9]*/{printf("${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} ${ds}html
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540 echo '${lt}/table${gt}' ${gt}${gt} ${ds}html
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541 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} ${ds}html
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542 else
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543 export _EFP=${ds}3
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544 mkdir -p ${ds}_EFP
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545 awk '${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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546 ${ds}1 ~ /[1-9][0-9]*/{fn="cluster_"${ds}1"_reads.txt"; \
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547 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} ${ds}html
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548 echo '${lt}/table${gt}' ${gt}${gt} ${ds}html
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549 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} ${ds}html
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550 for i in `awk '${ds}1 ~ /[1-9][0-9]*/{print ${ds}1}' ${ds}rlts`;
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551 do fn=cluster_${ds}{i}_reads.txt;
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552 pn=${ds}_EFP/${ds}fn;
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553 perl \${DEFUSE_PATH}/scripts/get_reads.pl -c $defuse_config -o output_dir -i ${ds}i ${gt} ${ds}pn;
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554 done
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555 fi
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556 }
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557 ## substitute pathnames into config file
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558 if `grep __DEFUSE_PATH__ $defuse_config ${gt} /dev/null`;then sed -i'.tmp' "s#__DEFUSE_PATH__#\${DEFUSE_PATH}#" $defuse_config; fi
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559 if `grep __SAMTOOLS_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} SAMTOOLS_BIN=`which samtools`;then sed -i'.tmp' "s#__SAMTOOLS_BIN__#\${SAMTOOLS_BIN}#" $defuse_config; fi
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560 if `grep __BOWTIE_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BOWTIE_BIN=`which bowtie`;then sed -i'.tmp' "s#__BOWTIE_BIN__#\${BOWTIE_BIN}#" $defuse_config; fi
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561 if `grep __BOWTIE_BUILD_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BOWTIE_BUILD_BIN=`which bowtie-build`;then sed -i'.tmp' "s#__BOWTIE_BUILD_BIN__#\${BOWTIE_BUILD_BIN}#" $defuse_config; fi
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562 if `grep __BLAT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BLAT_BIN=`which blat`;then sed -i'.tmp' "s#__BLAT_BIN__#\${BLAT_BIN}#" $defuse_config; fi
2
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563 if `grep __FATOTWOBIT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} FATOTWOBIT_BIN=`which faToTwoBit`;then sed -i'.tmp' "s#__FATOTWOBIT_BIN__#\${FATOTWOBIT_BIN}#" $defuse_config; fi
7
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564 if `grep __GMAP_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} GMAP_BIN=`which gmap`;then sed -i'.tmp' "s#__GMAP_BIN__#\${GMAP_BIN}#" $defuse_config; fi
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565 if `grep __GMAP_SETUP_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} GMAP_SETUP_BIN=`which gmap_setup`;then sed -i'.tmp' "s#__GMAP_SETUP_BIN__#\${GMAP_SETUP_BIN}#" $defuse_config; fi
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parents: 0
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566 if `grep __R_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} R_BIN=`which R`;then sed -i'.tmp' "s#__R_BIN__#\${R_BIN}#" $defuse_config; fi
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567 if `grep __RSCRIPT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} RSCRIPT_BIN=`which Rscript`;then sed -i'.tmp' "s#__RSCRIPT_BIN__#\${RSCRIPT_BIN}#" $defuse_config; fi
0
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568
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569
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570 ## copy config to output
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571 cp $defuse_config $config_txt
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572 ## make a data_dir and ln -s the input fastq
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573 mkdir -p data_dir
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574 ## ln -s "$left_pairendreads" data_dir/reads_1.fastq
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575 ## ln -s "$right_pairendreads" data_dir/reads_2.fastq
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576 cp "$left_pairendreads" data_dir/reads_1.fastq
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577 cp "$right_pairendreads" data_dir/reads_2.fastq
0
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578 ## ln to output_dir in from_work_dir
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579 #if $defuse_out.__str__ != 'None':
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580 mkdir -p $defuse_out.dataset.extra_files_path
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581 ln -s $defuse_out.dataset.extra_files_path output_dir
0
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582 #else
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583 mkdir -p output_dir
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584 #end if
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585 ## run defuse.pl
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586 perl \${DEFUSE_PATH}/scripts/defuse.pl -name "$library_name" -c $defuse_config -1 data_dir/reads_1.fastq -2 data_dir/reads_2.fastq -o output_dir -p \$GALAXY_SLOTS
0
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587 ## copy primary results to output datasets
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588 if [ -e output_dir/log/defuse.log ]; then cp output_dir/log/defuse.log $defuse_log; fi
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1af6f32ff592 Add datamanager, move to defuse_reference.loc
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589 ## if [ -e output_dir/results.tsv ]; then cp output_dir/results.tsv $results_tsv; fi
0
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590 if [ -e output_dir/results.filtered.tsv ]; then cp output_dir/results.filtered.tsv $results_filtered_tsv; fi
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591 if [ -e output_dir/results.classify.tsv ]; then cp output_dir/results.classify.tsv $results_classify_tsv; fi
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592 #if $breakpoints_bam:
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593 if [ -e output_dir/results.filtered.tsv ] ${amp}${amp} [ -e output_dir/breakpoints.genome.psl ]
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parents: 27
diff changeset
594 then
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parents: 27
diff changeset
595 awk "\\$10 ~ /^(`awk '\\$1 ~ /[0-9]+/{print \\$1}' output_dir/results.filtered.tsv | tr '\n' '|'`)\\$/{print \\$0}" output_dir/breakpoints.genome.psl > breakpoints.genome.filtered.psl ${amp}${amp}
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parents: 27
diff changeset
596 psl2sam.pl breakpoints.genome.filtered.psl > breakpoints.genome.filtered.sam ${amp}${amp}
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parents: 27
diff changeset
597 samtools view -b -T /panfs/roc/rissdb/galaxy/genomes/NCBIM37/defuse/defuse.reference.fa -o breakpoints.genome.filtered.bam breakpoints.genome.filtered.sam ${amp}${amp}
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parents: 27
diff changeset
598 samtools sort breakpoints.genome.filtered.bam breakpoints ${amp}${amp}
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parents: 27
diff changeset
599 ## samtools index breakpoints.bam
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parents: 27
diff changeset
600 cp breakpoints.bam $fusions_bam
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parents: 27
diff changeset
601 fi
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parents: 27
diff changeset
602 #end if
0
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603 ## create html with links for output_dir
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604 #if $defuse_out.__str__ != 'None':
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605 if [ -e $defuse_out ]
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606 then
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607 echo '${lt}html${gt}${lt}head${gt}${lt}title${gt}Defuse Output${lt}/title${gt}${lt}/head${gt}${lt}body${gt}' ${gt} $defuse_out
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608 echo '${lt}h2${gt}Defuse Output Files${lt}/h2${gt}${lt}ul${gt}' ${gt}${gt} $defuse_out
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609 pushd $defuse_out.dataset.extra_files_path
0
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610 for f in `find -L . -maxdepth 1 -type f`;
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611 do fn=`basename ${ds}f`; echo '${lt}li${gt}${lt}a href="'${ds}fn'"${gt}'${ds}fn'${lt}/a${gt}${lt}/li${gt}' ${gt}${gt} $defuse_out;
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612 done
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613 popd
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614 echo '${lt}/ul${gt}' ${gt}${gt} $defuse_out
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diff changeset
615 echo '${lt}/body${gt}${lt}/html${gt}' ${gt}${gt} $defuse_out
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616 fi
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617 #end if
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618 ## run get_reads.pl on each cluster
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619 #if $fusion_reads.__str__ != 'None':
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620 if [ -e output_dir/results.filtered.tsv -a -e $fusion_reads ]
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diff changeset
621 then
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diff changeset
622 mkdir -p $fusion_reads.dataset.extra_files_path
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parents: 33
diff changeset
623 results2html output_dir/results.filtered.tsv $fusion_reads $fusion_reads.dataset.extra_files_path
0
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624 fi
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625 #end if
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626 </configfile>
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627 </configfiles>
5
87033f379b99 Edit labels and help.
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diff changeset
628
0
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629 <tests>
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630 </tests>
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631 <help>
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632 **DeFuse**
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633
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634 DeFuse_ is a software package for gene fusion discovery using RNA-Seq data. The software uses clusters of discordant paired end alignments to inform a split read alignment analysis for finding fusion boundaries. The software also employs a number of heuristic filters in an attempt to reduce the number of false positives and produces a fully annotated output for each predicted fusion.
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635
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636 Journal reference: http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1001138
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637
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638 .. _DeFuse: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=Main_Page
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parents:
diff changeset
639
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parents:
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640 ------
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parents:
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641
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parents:
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642 **Inputs**
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parents:
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643
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644 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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645
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646 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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647
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diff changeset
648 DeFuse uses a Reference Dataset to search for gene fusions. The Reference Dataset is generated from the following sources in DeFuse_Version_0.4_:
0
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649 - genome_fasta from Ensembl
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650 - gene_models from Ensembl
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parents:
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651 - repeats_filename from UCSC RepeatMasker rmsk.txt
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parents:
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652 - est_fasta from UCSC
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parents:
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653 - est_alignments from UCSC intronEst.txt
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parents:
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654 - unigene_fasta from NCBI
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parents:
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655
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656 .. _DeFuse_Version_0.4: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=DeFuse_Version_0.4.2
0
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657
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658 ------
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parents:
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659
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660 **Outputs**
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661
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662 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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663
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664 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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665
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666 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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667
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668 - **Identification**
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669 - cluster_id : random identifier assigned to each prediction
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670 - library_name : library name given on the command line of defuse
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671 - gene1 : ensembl id of gene 1
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672 - gene2 : ensembl id of gene 2
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673 - gene_name1 : name of gene 1
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674 - gene_name2 : name of gene 2
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675 - **Evidence**
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676 - break_predict : breakpoint prediction method, denovo or splitr, that is considered most reliable
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677 - concordant_ratio : proportion of spanning reads considered concordant by blat
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678 - denovo_min_count : minimum kmer count across denovo assembled sequence
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679 - denovo_sequence : fusion sequence predicted by debruijn based denovo sequence assembly
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680 - denovo_span_pvalue : p-value, lower values are evidence the prediction is a false positive
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681 - gene_align_strand1 : alignment strand for spanning read alignments to gene 1
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682 - gene_align_strand2 : alignment strand for spanning read alignments to gene 2
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683 - min_map_count : minimum of the number of genomic mappings for each spanning read
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684 - max_map_count : maximum of the number of genomic mappings for each spanning read
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685 - mean_map_count : average of the number of genomic mappings for each spanning read
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686 - num_multi_map : number of spanning reads that map to more than one genomic location
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687 - span_count : number of spanning reads supporting the fusion
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688 - span_coverage1 : coverage of spanning reads aligned to gene 1 as a proportion of expected coverage
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689 - span_coverage2 : coverage of spanning reads aligned to gene 2 as a proportion of expected coverage
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690 - span_coverage_min : minimum of span_coverage1 and span_coverage2
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691 - span_coverage_max : maximum of span_coverage1 and span_coverage2
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692 - splitr_count : number of split reads supporting the prediction
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693 - splitr_min_pvalue : p-value, lower values are evidence the prediction is a false positive
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694 - splitr_pos_pvalue : p-value, lower values are evidence the prediction is a false positive
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695 - splitr_sequence : fusion sequence predicted by split reads
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696 - splitr_span_pvalue : p-value, lower values are evidence the prediction is a false positive
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697 - **Annotation**
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698 - adjacent : fusion between adjacent genes
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699 - altsplice : fusion likely the product of alternative splicing between adjacent genes
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700 - break_adj_entropy1 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 1
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parents:
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701 - break_adj_entropy2 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 2
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702 - break_adj_entropy_min : minimum of break_adj_entropy1 and break_adj_entropy2
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parents:
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703 - breakpoint_homology : number of nucleotides at the fusion splice that align equally well to gene 1 or gene 2
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704 - breakseqs_estislands_percident : maximum percent identity of fusion sequence alignments to est islands
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705 - cdna_breakseqs_percident : maximum percent identity of fusion sequence alignments to cdna
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706 - deletion : fusion produced by a genomic deletion
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707 - est_breakseqs_percident : maximum percent identity of fusion sequence alignments to est
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708 - eversion : fusion produced by a genomic eversion
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709 - exonboundaries : fusion splice at exon boundaries
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710 - expression1 : expression of gene 1 as number of concordant pairs aligned to exons
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711 - expression2 : expression of gene 2 as number of concordant pairs aligned to exons
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712 - gene_chromosome1 : chromosome of gene 1
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713 - gene_chromosome2 : chromosome of gene 2
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714 - gene_end1 : end position for gene 1
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715 - gene_end2 : end position for gene 2
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716 - gene_location1 : location of breakpoint in gene 1
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717 - gene_location2 : location of breakpoint in gene 2
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718 - gene_start1 : start of gene 1
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719 - gene_start2 : start of gene 2
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720 - gene_strand1 : strand of gene 1
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721 - gene_strand2 : strand of gene 2
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722 - genome_breakseqs_percident : maximum percent identity of fusion sequence alignments to genome
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723 - genomic_break_pos1 : genomic position in gene 1 of fusion splice / breakpoint
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724 - genomic_break_pos2 : genomic position in gene 2 of fusion splice / breakpoint
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725 - genomic_strand1 : genomic strand in gene 1 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream
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726 - genomic_strand2 : genomic strand in gene 2 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream
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727 - interchromosomal : fusion produced by an interchromosomal translocation
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728 - interrupted_index1 : ratio of coverage before and after the fusion splice / breakpoint in gene 1
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729 - interrupted_index2 : ratio of coverage before and after the fusion splice / breakpoint in gene 2
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730 - inversion : fusion produced by genomic inversion
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731 - orf : fusion combines genes in a way that preserves a reading frame
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732 - probability : probability produced by classification using adaboost and example positives/negatives (only given in results.classified.txt)
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733 - read_through : fusion involving adjacent potentially resulting from co-transcription rather than genome rearrangement
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734 - repeat_proportion1 : proportion of the spanning reads in gene 1 that span a repeat region
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735 - repeat_proportion2 : proportion of the spanning reads in gene 2 that span a repeat region
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736 - max_repeat_proportion : max of repeat_proportion1 and repeat_proportion2
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737 - splice_score : number of nucleotides similar to GTAG at fusion splice
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parents:
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738 - num_splice_variants : number of potential splice variants for this gene pair
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739 - 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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parents:
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740 - 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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741
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742
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743 **Example**
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744
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745 results.tsv::
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746
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747 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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748 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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749 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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750
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751 </help>
44
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752 <expand macro="citations"/>
0
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753 </tool>