annotate defuse.xml @ 1:e0a835a2f74a draft default tip

planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/defuse commit 1a82c0609363fe0541e6dbdd46308a67f30ca9e1-dirty
author jjohnson
date Mon, 20 May 2019 15:30:06 -0400
parents 63f23d5db27c
children
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63f23d5db27c planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/defuse commit 2c2fd38cb761ec57bac7a0bd376e6aa2b88265d0-dirty
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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 </requirements>
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9 <command detect_errors="default"><![CDATA[
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10 #if $defuse_out.__str__ != 'None':
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11 ## ln to output_dir in from_work_dir
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12 mkdir -p $defuse_out.files_path &&
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13 ln -s $defuse_out.files_path output_dir &&
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14 #else
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15 mkdir -p output_dir &&
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16 #end if
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17 ## Put executable paths in config file
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18 $__tool_directory__/config_sub.sh $defuse_config output_dir/defuse.cfg &&
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19 ## copy config to output
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20 cp output_dir/defuse.cfg $config_txt &&
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21 ## make a data_dir and ln -s the input fastq
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22 mkdir -p data_dir &&
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23 ln -s "$left_pairendreads" data_dir/reads_1.fastq &&
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24 ln -s "$right_pairendreads" data_dir/reads_2.fastq &&
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25 ## run
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26 DATASET_DIRECTORY=`grep '^dataset_directory' output_dir/defuse.cfg | awk '{print \$NF}'` &&
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27 defuse_run.pl --name "$library_name" --config output_dir/defuse.cfg --dataset \$DATASET_DIRECTORY -1 data_dir/reads_1.fastq -2 data_dir/reads_2.fastq -o output_dir -p \$GALAXY_SLOTS &&
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28 grep -v cluster_id output_dir/results.filtered.tsv | awk '{print $1}' > cluster_id_list &&
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29 get_fusion_fastq.pl --list cluster_id_list --output output_dir --fastq1 results.fusions_1.fq --fastq2 results.fusions_2.fq &&
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30 cp output_dir/results.* . &&
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31 cp `find -L output_dir -name defuse.log` $defuse_log
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32 #if $defuse_out.__str__ != 'None':
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33 && $__tool_directory__/make_html.sh $defuse_out $defuse_out.files_path
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34 #end if
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35 ]]></command>
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36 <configfiles>
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37 <configfile name="defuse_config">
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38 #import re
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39 #if $refGenomeSource.genomeSource == "history":
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40 #set config_file = $refGenomeSource.config.__str__
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41 #else
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42 #set config_file = $refGenomeSource.index.value
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43 #end if
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44 #set pat = '^\s*([^#=][^=]*?)\s*=\s*(.*?)\s*$'
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45 #set fh = open($config_file)
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46 #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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47 #set kv = []
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48 #for $line in $fh:
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49 #set m = $re.match($pat,$line)
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50 #if $m and len($m.groups()) == 2:
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51 ## #echo $line
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52 #if $m.groups()[0] in keys:
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53 #set k = $m.groups()[0]
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54 #if k == 'dataset_directory' and $refGenomeSource.genomeSource == "indexed":
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55 ## The DataManager is conifgured to place the config file in the same directory as the defuse_data: dataset_directory
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56 #set v = $os.path.dirname($config_file)
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57 #else:
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58 #set v = $m.groups()[1]
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59 #end if
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60 #set kv = $kv + [[$k, $v]]
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61 #end if
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62 #end if
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63 #end for
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64 ## #echo $kv
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65 #set ref_dict = dict($kv)
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66 ## #echo $ref_dict
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67 ## include raw $refGenomeSource.config.__str__
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68 #
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69 # Configuration file for defuse
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70 #
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71 # At a minimum, change all values enclused by []
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72 #
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73
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74 # Directory where the defuse code was unpacked
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75 ## Default location in the tool/defuse directory
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76 # source_directory = ${__root_dir__}/tools/defuse
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77 source_directory = __DEFUSE_PATH__
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78
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79 # Directory where you want your dataset
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80 dataset_directory = #slurp
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81 #try
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82 $ref_dict['dataset_directory']
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83 #except
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84 /project/db/genomes/Hsapiens/hg19/defuse
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85 #end try
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86
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87 # Organism IDs
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88 ensembl_organism = #slurp
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89 #try
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90 $ref_dict['ensembl_organism']
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91 #except
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92 homo_sapiens
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93 #end try
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94
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95 ensembl_prefix = #slurp
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96 #try
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97 $ref_dict['ensembl_prefix']
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98 #except
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99 Homo_sapiens
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100 #end try
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101
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102 ensembl_version = #slurp
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103 #try
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104 $ref_dict['ensembl_version']
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105 #except
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106 71
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107 #end try
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108
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109 ensembl_genome_version = #slurp
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110 #try
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111 $ref_dict['ensembl_genome_version']
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112 #except
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113 GRCh37
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114 #end try
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115
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116 ucsc_genome_version = #slurp
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117 #try
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118 $ref_dict['ucsc_genome_version']
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119 #except
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120 hg19
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121 #end try
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122
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123 ncbi_organism = #slurp
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124 #try
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125 $ref_dict['ncbi_organism']
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126 #except
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127 Homo_sapiens
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128 #end try
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129
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130 ncbi_prefix = #slurp
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131 #try
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132 $ref_dict['ncbi_prefix']
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133 #except
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134 Hs
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135 #end try
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136
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137 # Input genome and gene models
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138 gene_models = #slurp
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139 #try
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140 $ref_dict['gene_models']
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141 #except
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142 \$(dataset_directory)/\$(ensembl_prefix).\$(ensembl_genome_version).\$(ensembl_version).gtf
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143 #end try
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144 genome_fasta = #slurp
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145 #try
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146 $ref_dict['genome_fasta']
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147 #except
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148 \$(dataset_directory)/\$(ensembl_prefix).\$(ensembl_genome_version).\$(ensembl_version).dna.chromosomes.fa
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149 #end try
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150
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151 # Repeat table from ucsc genome browser
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152 repeats_filename = #slurp
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153 #try
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154 $ref_dict['repeats_filename']
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155 #except
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156 \$(dataset_directory)/rmsk.txt
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157 #end try
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158
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159 # EST info downloaded from ucsc genome browser
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160 est_fasta = #slurp
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161 #try
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162 $ref_dict['est_fasta']
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163 #except
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164 \$(dataset_directory)/est.fa
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165 #end try
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166 est_alignments = #slurp
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167 #try
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168 $ref_dict['est_alignments']
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169 #except
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170 \$(dataset_directory)/intronEst.txt
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171 #end try
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172
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173 # Unigene clusters downloaded from ncbi
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174 unigene_fasta = #slurp
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175 #try
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176 $ref_dict['unigene_fasta']
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177 #except
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178 \$(dataset_directory)/\$(ncbi_prefix).seq.uniq
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179 #end try
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180
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181 # Paths to external tools
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182 bowtie_bin = __BOWTIE_BIN__
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183 bowtie_build_bin = __BOWTIE_BUILD_BIN__
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184 blat_bin = __BLAT_BIN__
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185 fatotwobit_bin = __FATOTWOBIT_BIN__
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186 gmap_bin = __GMAP_BIN__
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187 gmap_bin = __GMAP_BIN__
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188 gmap_setup_bin = __GMAP_SETUP_BIN__
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189 r_bin = __R_BIN__
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190 rscript_bin = __RSCRIPT_BIN__
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191
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192 # Directory where you want your dataset
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193 gmap_index_directory = #slurp
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194 #try
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195 $ref_dict['gmap_index_directory']
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196 #except
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197 #raw
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198 $(dataset_directory)/gmap
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199 #end raw
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200 #end try
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201
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202 #raw
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203 # Dataset files
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204 dataset_prefix = $(dataset_directory)/defuse
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205 chromosome_prefix = $(dataset_prefix).dna.chromosomes
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206 exons_fasta = $(dataset_prefix).exons.fa
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207 cds_fasta = $(dataset_prefix).cds.fa
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208 cdna_regions = $(dataset_prefix).cdna.regions
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209 cdna_fasta = $(dataset_prefix).cdna.fa
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210 reference_fasta = $(dataset_prefix).reference.fa
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211 rrna_fasta = $(dataset_prefix).rrna.fa
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212 ig_gene_list = $(dataset_prefix).ig.gene.list
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213 repeats_regions = $(dataset_directory)/repeats.regions
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214 est_split_fasta1 = $(dataset_directory)/est.1.fa
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215 est_split_fasta2 = $(dataset_directory)/est.2.fa
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216 est_split_fasta3 = $(dataset_directory)/est.3.fa
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217 est_split_fasta4 = $(dataset_directory)/est.4.fa
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218 est_split_fasta5 = $(dataset_directory)/est.5.fa
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219 est_split_fasta6 = $(dataset_directory)/est.6.fa
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220 est_split_fasta7 = $(dataset_directory)/est.7.fa
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221 est_split_fasta8 = $(dataset_directory)/est.8.fa
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222 est_split_fasta9 = $(dataset_directory)/est.9.fa
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223
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224 # Fasta files with bowtie indices for prefiltering reads for concordantly mapping pairs
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225 prefilter1 = $(unigene_fasta)
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226
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227 # deFuse scripts and tools
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228 scripts_directory = $(source_directory)/scripts
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229 tools_directory = $(source_directory)/tools
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230 data_directory = $(source_directory)/data
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231 #end raw
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232
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233 # Path to samtools, 0.1.8 is compiled for you, use other versions at your own risk
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234 samtools_bin = #slurp
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235 #try
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236 $ref_dict['samtools_bin']
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237 #except
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238 \$(source_directory)/external/samtools-0.1.8/samtools
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239 #end try
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240
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241 # Bowtie parameters
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242 bowtie_threads = #slurp
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243 #try
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244 $ref_dict['bowtie_threads']
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245 #except
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246 4
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247 #end try
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248 bowtie_quals = #slurp
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249 #try
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250 $ref_dict['bowtie_quals']
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251 #except
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252 --phred33-quals
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253 #end try
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254 bowtie_params = #slurp
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255 #try
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256 $ref_dict['bowtie_params']
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257 #except
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258 --chunkmbs 200
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259 #end try
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260 max_insert_size = #slurp
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261 #if $defuse_param.settings == "full" and $defuse_param.max_insert_size.__str__ != "":
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262 $defuse_param.max_insert_size
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263 #else
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264 #try
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265 $ref_dict['max_insert_size']
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266 #except
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267 500
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268 #end try
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269 #end if
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270
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271 # Parameters for building the dataset
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272 chromosomes = #slurp
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273 #try
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274 $ref_dict.chromosomes
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275 #except
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276 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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277 #end try
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278 mt_chromosome = #slurp
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279 #try
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280 $ref_dict['mt_chromosome']
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281 #except
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282 MT
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283 #end try
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284 gene_sources = #slurp
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285 #try
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286 $ref_dict['gene_sources']
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287 #except
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288 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding
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289 #end try
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290 ig_gene_sources = #slurp
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291 #try
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292 $ref_dict['ig_gene_sources']
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293 #except
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294 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene
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295 #end try
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296 rrna_gene_sources = #slurp
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297 #try
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298 $ref_dict['rrna_gene_sources']
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299 #except
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300 Mt_rRNA,rRNA,rRNA_pseudogene
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301 #end try
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302
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303 # Blat sequences per job
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304 num_blat_sequences = #slurp
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305 #try
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306 $ref_dict['num_blat_sequences']
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307 #except
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308 10000
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309 #end try
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310
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311 # Minimum gene fusion range
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312 dna_concordant_length = #slurp
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313 #if $defuse_param.settings == "full" and $defuse_param.dna_concordant_length.__str__ != "":
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314 $defuse_param.dna_concordant_length
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315 #else
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316 #try
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317 $ref_dict['dna_concordant_length']
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318 #except
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319 2000
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320 #end try
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321 #end if
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322
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323 # Trim length for discordant reads (split reads are not trimmed)
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324 discord_read_trim = #slurp
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325 #if $defuse_param.settings == "full" and $defuse_param.discord_read_trim.__str__ != "":
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326 $defuse_param.discord_read_trim
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327 #else
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328 #try
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329 $ref_dict['discord_read_trim']
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330 #except
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331 50
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332 #end try
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333 #end if
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334 # Calculate extra annotations, fusion splice index and interrupted index
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335 calculate_extra_annotations = #slurp
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336 #if $defuse_param.settings == "full" and $defuse_param.calculate_extra_annotations.__str__ != "":
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337 $defuse_param.calculate_extra_annotations
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338 #else
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339 #try
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340 $ref_dict['calculate_extra_annotations']
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341 #except
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342 no
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343 #end try
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344 #end if
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345 # Filtering parameters
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346 clustering_precision = #slurp
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347 #if $defuse_param.settings == "full" and $defuse_param.clustering_precision.__str__ != ""
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348 $defuse_param.clustering_precision
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349 #else
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350 #try
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351 $ref_dict['clustering_precision']
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352 #except
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353 0.95
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354 #end try
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355 #end if
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356 span_count_threshold = #slurp
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357 #if $defuse_param.settings == "full" and $defuse_param.span_count_threshold.__str__ != ""
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358 $defuse_param.span_count_threshold
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359 #else
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360 #try
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361 $ref_dict['span_count_threshold']
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362 #except
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363 5
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364 #end try
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365 #end if
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366 percent_identity_threshold = #slurp
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367 #if $defuse_param.settings == "full" and $defuse_param.percent_identity_threshold.__str__ != ""
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368 $defuse_param.percent_identity_threshold
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369 #else
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370 #try
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371 $ref_dict['percent_identity_threshold']
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372 #except
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373 0.90
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374 #end try
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375 #end if
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376 split_min_anchor = #slurp
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377 #if $defuse_param.settings == "full" and $defuse_param.split_min_anchor.__str__ != ""
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378 $defuse_param.split_min_anchor
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379 #else
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380 #try
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381 $ref_dict['split_min_anchor']
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382 #except
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383 4
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384 #end try
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385 #end if
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386 splice_bias = #slurp
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387 #if $defuse_param.settings == "full" and $defuse_param.splice_bias.__str__ != ""
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388 $defuse_param.splice_bias
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389 #else
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390 #try
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391 $ref_dict['splice_bias']
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392 #except
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393 10
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394 #end try
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395 #end if
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396 denovo_assembly = #slurp
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397 #if $defuse_param.settings == "full" and $defuse_param.denovo_assembly.__str__ != ""
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398 $defuse_param.denovo_assembly
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399 #else
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400 #try
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401 $ref_dict['denovo_assembly']
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402 #except
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403 no
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404 #end try
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405 #end if
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406 probability_threshold = #slurp
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407 #if $defuse_param.settings == "full" and $defuse_param.probability_threshold.__str__ != ""
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diff changeset
408 $defuse_param.probability_threshold
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409 #else
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410 #try
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411 $ref_dict['probability_threshold']
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412 #except
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413 0.50
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414 #end try
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415 #end if
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416 positive_controls = \$(data_directory)/controls.txt
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417
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418 # Use multiple exon transcripts for stats calculations (yes/no)
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419 # should be enabled for very small libraries
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420 multi_exon_transcripts_stats = #slurp
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421 #if $defuse_param.settings == "full" and $defuse_param.multi_exon_transcripts_stats.__str__ != ""
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422 $defuse_param.multi_exon_transcripts_stats
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423 #else
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424 #try
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425 $ref_dict['multi_exon_transcripts_stats']
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426 #except
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427 no
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428 #end try
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429 #end if
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430
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431 # Position density when calculating covariance
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432 covariance_sampling_density = #slurp
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433 #if $defuse_param.settings == "full" and $defuse_param.covariance_sampling_density.__str__ != ""
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434 $defuse_param.covariance_sampling_density
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diff changeset
435 #else
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436 #try
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437 $ref_dict['covariance_sampling_density']
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438 #except
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439 0.01
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440 #end try
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441 #end if
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442
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443 # Maximum number of alignments for a read pair
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444 # Pairs with more alignments are filtered
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445 max_paired_alignments = #slurp
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446 #if $defuse_param.settings == "full" and $defuse_param.max_paired_alignments.__str__ != ""
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447 $defuse_param.max_paired_alignments
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448 #else
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449 #try
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450 $ref_dict['max_paired_alignments']
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451 #except
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452 10
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453 #end try
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454 #end if
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455
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456 # Number of reads for each job in split
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457 reads_per_job = #slurp
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458 #if $defuse_param.settings == "full" and $defuse_param.reads_per_job.__str__ != ""
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459 $defuse_param.reads_per_job
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460 #else
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461 #try
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462 $ref_dict['reads_per_job']
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463 #except
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464 1000000
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465 #end try
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466 #end if
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467
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468 #raw
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469 # If you have command line 'mail' and wish to be notified
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470 # mailto = andrew.mcpherson@gmail.com
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471
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472 # Remove temp files
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473 remove_job_files = yes
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474 remove_job_temp_files = yes
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475
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476 qsub_params = ""
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477
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478 #end raw
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479
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480 </configfile>
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481 </configfiles>
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482 <inputs>
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483 <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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484 <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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485 <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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486 <validator type="length" min="1"/>
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487 </param>
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488 <conditional name="refGenomeSource">
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489 <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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490 <option value="indexed">Use a built-in DeFuse Reference Dataset</option>
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491 <option value="history">Use a configuration from your history that specifies the DeFuse Reference Dataset</option>
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492 </param>
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493 <when value="indexed">
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494 <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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495 <options from_file="defuse_reference.loc">
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496 <column name="name" index="1"/>
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497 <column name="value" index="3"/>
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498 <filter type="sort_by" column="0" />
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499 <validator type="no_options" message="No indexes are available" />
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500 </options>
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501 </param>
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502 </when>
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503 <when value="history">
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504 <param name="config" type="data" format="defuse.conf" label="Defuse Config file" help=""/>
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505 </when> <!-- history -->
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506 </conditional> <!-- refGenomeSource -->
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507 <conditional name="defuse_param">
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508 <param name="settings" type="select" label="Defuse parameter settings" help="">
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509 <option value="preSet">Default settings</option>
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510 <option value="full">Full parameter list</option>
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511 </param>
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512 <when value="preSet" />
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513 <when value="full">
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514 <param name="max_insert_size" type="integer" value="500" optional="true" label="Bowtie max_insert_size" />
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515 <param name="dna_concordant_length" type="integer" value="2000" optional="true" label="Minimum gene fusion range dna_concordant_length" />
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516 <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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517 <param name="calculate_extra_annotations" type="select" label="Calculate extra annotations, fusion splice index and interrupted index" help="">
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518 <option value="">Use Default</option>
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519 <option value="no">no</option>
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520 <option value="yes">yes</option>
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521 </param>
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522 <param name="clustering_precision" type="float" value=".95" optional="true" label="Filter clustering_precision">
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523 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/>
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524 </param>
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525 <param name="span_count_threshold" type="integer" value="5" optional="true" label="Filter span_count_threshold" />
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526 <param name="percent_identity_threshold" type="float" value=".90" optional="true" label="Filter percent_identity_threshold">
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527 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/>
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528 </param>
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529 <param name="split_min_anchor" type="integer" value="4" optional="true" label="Filter split_min_anchor" />
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530 <param name="splice_bias" type="integer" value="10" optional="true" label="Filter splice_bias" />
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531 <param name="probability_threshold" type="float" value="0.50" optional="true" label="Filter probability_threshold">
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532 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/>
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533 </param>
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534 <param name="multi_exon_transcripts_stats" type="select" label="Use multiple exon transcripts for stats calculations" help="should be enabled for very small libraries">
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535 <option value="no" selected="true">no</option>
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536 <option value="yes">yes</option>
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537 </param>
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538 <param name="covariance_sampling_density" type="float" value="0.01" optional="true" label="covariance_sampling_density">
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539 <help>Position density when calculating covariance</help>
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540 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/>
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541 </param>
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542 <param name="max_paired_alignments" type="integer" value="10" optional="true" label="max_paired_alignments">
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543 <help>Maximum number of alignments for a read pair, Pairs with more alignments are filtered, default is 10</help>
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544 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="1" max="100"/>
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545 </param>
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546 <param name="denovo_assembly" type="select" label="denovo_assembly" help="">
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547 <option value="">Use Default</option>
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548 <option value="no">no</option>
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549 <option value="yes">yes</option>
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550 </param>
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551 <!--
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552 <param name="positive_controls" type="data" format="txt" optional=true label="Defuse positive_controls" help=""/>
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553 -->
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554 <param name="reads_per_job" type="integer" value="1000000" optional="true" label="Number of reads for each job in split" />
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555 </when> <!-- full -->
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556 </conditional> <!-- defuse_param -->
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557 <param name="keep_output" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Save DeFuse working directory files"
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558 help="The defuse output working directory can be helpful for determining errors that may have occurred during the run,
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559 but they require considerable diskspace, and should be deleted and purged when no longer needed."/>
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560 </inputs>
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561 <outputs>
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562 <data format="txt" name="config_txt" label="${tool.name} on ${on_string}: config.txt"/>
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563 <data format="txt" name="defuse_log" label="${tool.name} on ${on_string}: defuse.log" />
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564 <data format="html" name="defuse_out" label="${tool.name} on ${on_string}: defuse_output (purge when no longer needed)">
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565 <filter>keep_output == True</filter>
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566 </data>
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567 <data format="defuse.results.tsv" name="results_classify_tsv" label="${tool.name} on ${on_string}: results.classify.tsv" from_work_dir="results.classify.tsv"/>
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568 <data format="defuse.results.tsv" name="results_filtered_tsv" label="${tool.name} on ${on_string}: results.filtered.tsv" from_work_dir="results.filtered.tsv"/>
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569 <data format="fastqsanger" name="results_fusions1_fq" label="${tool.name} on ${on_string}: fusions_1.fq" from_work_dir="results.fusions_1.fq" />
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570 <data format="fastqsanger" name="results_fusions2_fq" label="${tool.name} on ${on_string}: fusions_2.fq" from_work_dir="results.fusions_2.fq" />
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571 <!--
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572 expression_plot
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573 circos plot
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574 -->
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575 </outputs>
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576
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577 <tests>
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578 </tests>
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579 <help>
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580 **DeFuse**
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581
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582 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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583
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584 Journal reference: http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1001138
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585
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586 .. _DeFuse: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=Main_Page
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587
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588 ------
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589
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590 **Inputs**
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591
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592 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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593
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594 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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595
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596 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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597 - genome_fasta from Ensembl
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598 - gene_models from Ensembl
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599 - repeats_filename from UCSC RepeatMasker rmsk.txt
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600 - est_fasta from UCSC
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601 - est_alignments from UCSC intronEst.txt
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602 - unigene_fasta from NCBI
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603
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604 .. _DeFuse_Version_0.4: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=DeFuse_Version_0.4.2
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605
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606 ------
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607
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608 **Outputs**
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609
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610 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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611
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612 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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613
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614 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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615
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616 - **Identification**
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617 - cluster_id : random identifier assigned to each prediction
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618 - library_name : library name given on the command line of defuse
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619 - gene1 : ensembl id of gene 1
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620 - gene2 : ensembl id of gene 2
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621 - gene_name1 : name of gene 1
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622 - gene_name2 : name of gene 2
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623 - **Evidence**
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624 - break_predict : breakpoint prediction method, denovo or splitr, that is considered most reliable
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625 - concordant_ratio : proportion of spanning reads considered concordant by blat
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626 - denovo_min_count : minimum kmer count across denovo assembled sequence
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627 - denovo_sequence : fusion sequence predicted by debruijn based denovo sequence assembly
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628 - denovo_span_pvalue : p-value, lower values are evidence the prediction is a false positive
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629 - gene_align_strand1 : alignment strand for spanning read alignments to gene 1
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630 - gene_align_strand2 : alignment strand for spanning read alignments to gene 2
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631 - min_map_count : minimum of the number of genomic mappings for each spanning read
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632 - max_map_count : maximum of the number of genomic mappings for each spanning read
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633 - mean_map_count : average of the number of genomic mappings for each spanning read
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634 - num_multi_map : number of spanning reads that map to more than one genomic location
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635 - span_count : number of spanning reads supporting the fusion
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636 - span_coverage1 : coverage of spanning reads aligned to gene 1 as a proportion of expected coverage
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637 - span_coverage2 : coverage of spanning reads aligned to gene 2 as a proportion of expected coverage
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638 - span_coverage_min : minimum of span_coverage1 and span_coverage2
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639 - span_coverage_max : maximum of span_coverage1 and span_coverage2
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640 - splitr_count : number of split reads supporting the prediction
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641 - splitr_min_pvalue : p-value, lower values are evidence the prediction is a false positive
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642 - splitr_pos_pvalue : p-value, lower values are evidence the prediction is a false positive
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643 - splitr_sequence : fusion sequence predicted by split reads
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644 - splitr_span_pvalue : p-value, lower values are evidence the prediction is a false positive
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645 - **Annotation**
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646 - adjacent : fusion between adjacent genes
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647 - altsplice : fusion likely the product of alternative splicing between adjacent genes
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648 - break_adj_entropy1 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 1
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649 - break_adj_entropy2 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 2
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650 - break_adj_entropy_min : minimum of break_adj_entropy1 and break_adj_entropy2
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651 - breakpoint_homology : number of nucleotides at the fusion splice that align equally well to gene 1 or gene 2
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652 - breakseqs_estislands_percident : maximum percent identity of fusion sequence alignments to est islands
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653 - cdna_breakseqs_percident : maximum percent identity of fusion sequence alignments to cdna
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654 - deletion : fusion produced by a genomic deletion
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655 - est_breakseqs_percident : maximum percent identity of fusion sequence alignments to est
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656 - eversion : fusion produced by a genomic eversion
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657 - exonboundaries : fusion splice at exon boundaries
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658 - expression1 : expression of gene 1 as number of concordant pairs aligned to exons
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659 - expression2 : expression of gene 2 as number of concordant pairs aligned to exons
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660 - gene_chromosome1 : chromosome of gene 1
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661 - gene_chromosome2 : chromosome of gene 2
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662 - gene_end1 : end position for gene 1
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663 - gene_end2 : end position for gene 2
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664 - gene_location1 : location of breakpoint in gene 1
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665 - gene_location2 : location of breakpoint in gene 2
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666 - gene_start1 : start of gene 1
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667 - gene_start2 : start of gene 2
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668 - gene_strand1 : strand of gene 1
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669 - gene_strand2 : strand of gene 2
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670 - genome_breakseqs_percident : maximum percent identity of fusion sequence alignments to genome
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671 - genomic_break_pos1 : genomic position in gene 1 of fusion splice / breakpoint
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672 - genomic_break_pos2 : genomic position in gene 2 of fusion splice / breakpoint
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673 - genomic_strand1 : genomic strand in gene 1 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream
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674 - genomic_strand2 : genomic strand in gene 2 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream
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675 - interchromosomal : fusion produced by an interchromosomal translocation
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676 - interrupted_index1 : ratio of coverage before and after the fusion splice / breakpoint in gene 1
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677 - interrupted_index2 : ratio of coverage before and after the fusion splice / breakpoint in gene 2
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678 - inversion : fusion produced by genomic inversion
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679 - orf : fusion combines genes in a way that preserves a reading frame
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680 - probability : probability produced by classification using adaboost and example positives/negatives (only given in results.classified.txt)
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681 - read_through : fusion involving adjacent potentially resulting from co-transcription rather than genome rearrangement
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682 - repeat_proportion1 : proportion of the spanning reads in gene 1 that span a repeat region
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683 - repeat_proportion2 : proportion of the spanning reads in gene 2 that span a repeat region
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684 - max_repeat_proportion : max of repeat_proportion1 and repeat_proportion2
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685 - splice_score : number of nucleotides similar to GTAG at fusion splice
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686 - num_splice_variants : number of potential splice variants for this gene pair
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687 - 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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688 - 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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689
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690
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691 **Example**
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692
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693 results.tsv::
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694
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695 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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696 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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697 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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698
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699 </help>
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700 <expand macro="citations"/>
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701 </tool>