annotate create_reference_dataset.xml @ 0:63f23d5db27c draft

planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/defuse commit 2c2fd38cb761ec57bac7a0bd376e6aa2b88265d0-dirty
author jjohnson
date Mon, 20 May 2019 15:25:03 -0400
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1 <tool id="create_defuse_reference" name="Create DeFuse Reference" version="@DEFUSE_VERSION@.1">
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2 <description>create a defuse reference from Ensembl and UCSC sources</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="aggressive"><![CDATA[
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10 mkdir -p $config_txt.dataset.extra_files_path &&
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11 ## Put executable paths in config file
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12 $__tool_directory__/config_sub.sh $defuse_config $config_txt &&
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13 ## defuse_create_ref.pl
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14 defuse_create_ref.pl -c $config_txt
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15 ]]></command>
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16 <configfiles>
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17 <configfile name="defuse_config">
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18 #
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19 # Configuration file for defuse
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20 #
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21 # Variables that desiganate the PATH to an application, e.g. __SAMTOOLS_BIN__
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22 # will be set by the runtime script using the ENV PATH
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23 #
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24
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25 # Directory where the defuse code was unpacked
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26 source_directory = __DEFUSE_PATH__
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27
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28 # Organism IDs
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29 ensembl_organism = $genome.ensembl_organism
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30 ensembl_prefix = $genome.ensembl_prefix
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31 ensembl_version = $genome.ensembl_version
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32 ensembl_genome_version = $genome.ensembl_genome_version
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33 ucsc_genome_version = $genome.ucsc_genome_version
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34 ncbi_organism = $genome.ncbi_organism
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35 ncbi_prefix = $genome.ncbi_prefix
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36
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37 # Directory where you want your dataset
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38 dataset_directory = $config_txt.dataset.extra_files_path
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39
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40 #raw
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41 # Input genome and gene models
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42 gene_models = $(dataset_directory)/$(ensembl_prefix).$(ensembl_genome_version).$(ensembl_version).gtf
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43 genome_fasta = $(dataset_directory)/$(ensembl_prefix).$(ensembl_genome_version).$(ensembl_version).dna.chromosomes.fa
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44
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45 # Repeat table from ucsc genome browser
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46 repeats_filename = $(dataset_directory)/repeats.txt
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47
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48 # EST info downloaded from ucsc genome browser
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49 est_fasta = $(dataset_directory)/est.fa
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50 est_alignments = $(dataset_directory)/intronEst.txt
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51
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52 # Unigene clusters downloaded from ncbi
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53 unigene_fasta = $(dataset_directory)/$(ncbi_prefix).seq.uniq
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54 #end raw
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55
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56 # Paths to external tools
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57 samtools_bin = __SAMTOOLS_BIN__
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58 bowtie_bin = __BOWTIE_BIN__
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59 bowtie_build_bin = __BOWTIE_BUILD_BIN__
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60 blat_bin = __BLAT_BIN__
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61 fatotwobit_bin = __FATOTWOBIT_BIN__
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62 gmap_bin = __GMAP_BIN__
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63 gmap_setup_bin = __GMAP_SETUP_BIN__
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64 r_bin = __R_BIN__
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65 rscript_bin = __RSCRIPT_BIN__
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66
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67 #raw
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68 # Directory where you want your dataset
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69 gmap_index_directory = $(dataset_directory)/gmap
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70 #end raw
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71
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72 #raw
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73 # Dataset files
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74 dataset_prefix = $(dataset_directory)/defuse
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75 chromosome_prefix = $(dataset_prefix).dna.chromosomes
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76 exons_fasta = $(dataset_prefix).exons.fa
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77 cds_fasta = $(dataset_prefix).cds.fa
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78 cdna_regions = $(dataset_prefix).cdna.regions
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79 cdna_fasta = $(dataset_prefix).cdna.fa
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80 reference_fasta = $(dataset_prefix).reference.fa
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81 rrna_fasta = $(dataset_prefix).rrna.fa
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82 ig_gene_list = $(dataset_prefix).ig.gene.list
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83 repeats_regions = $(dataset_directory)/repeats.regions
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84 est_split_fasta1 = $(dataset_directory)/est.1.fa
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85 est_split_fasta2 = $(dataset_directory)/est.2.fa
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86 est_split_fasta3 = $(dataset_directory)/est.3.fa
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87 est_split_fasta4 = $(dataset_directory)/est.4.fa
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88 est_split_fasta5 = $(dataset_directory)/est.5.fa
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89 est_split_fasta6 = $(dataset_directory)/est.6.fa
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90 est_split_fasta7 = $(dataset_directory)/est.7.fa
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91 est_split_fasta8 = $(dataset_directory)/est.8.fa
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92 est_split_fasta9 = $(dataset_directory)/est.9.fa
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93
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94 # Fasta files with bowtie indices for prefiltering reads for concordantly mapping pairs
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95 prefilter1 = $(unigene_fasta)
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96
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97 # deFuse scripts and tools
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98 scripts_directory = $(source_directory)/scripts
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99 tools_directory = $(source_directory)/tools
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100 data_directory = $(source_directory)/data
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101 #end raw
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102
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103 # Parameters for building the dataset
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104 chromosomes = $genome.chromosomes
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105 mt_chromosome = $genome.mt_chromosome
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106 gene_sources = $genome.gene_sources
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107 ig_gene_sources = $genome.ig_gene_sources
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108 rrna_gene_sources = $genome.rrna_gene_sources
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109 gene_biotypes = $genome.gene_sources
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110 ig_gene_biotypes = $genome.ig_gene_sources
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111 rrna_gene_biotypes = $genome.rrna_gene_sources
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112
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113 #raw
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114 # Remove temp files
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115 remove_job_files = yes
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116 remove_job_temp_files = yes
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117 #end raw
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118 </configfile>
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119 </configfiles>
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120 <inputs>
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121 <conditional name="genome">
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122 <param name="choice" type="select" label="Select a Genome Build">
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123 <option value="GRCh38">Homo_sapiens GRCh38 hg38</option>
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124 <option value="GRCh37">Homo_sapiens GRCh37 hg19</option>
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125 <option value="NCBI36">Homo_sapiens NCBI36 hg18</option>
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126 <option value="GRCm38">Mus_musculus GRCm38 mm10</option>
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127 <option value="NCBIM37">Mus_musculus NCBIM37 mm9</option>
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128 <option value="Rnor_5.0">Rattus_norvegicus Rnor_5.0 rn5</option>
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129 <option value="user_specified">User specified</option>
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130 </param>
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131 <when value="GRCh38">
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132 <param name="ensembl_organism" type="hidden" value="homo_sapiens"/>
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133 <param name="ensembl_prefix" type="hidden" value="Homo_sapiens"/>
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134 <param name="ensembl_genome_version" type="hidden" value="GRCh38"/>
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135 <param name="ensembl_version" type="hidden" value="80"/>
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136 <param name="ncbi_organism" type="hidden" value="Homo_sapiens"/>
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137 <param name="ncbi_prefix" type="hidden" value="Hs"/>
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138 <param name="ucsc_genome_version" type="hidden" value="hg38"/>
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139 <param name="chromosomes" type="hidden" value="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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140 <param name="mt_chromosome" type="hidden" value="MT"/>
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141 <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/>
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142 <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/>
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143 <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/>
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144 </when>
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145 <when value="GRCh37">
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146 <param name="ensembl_organism" type="hidden" value="homo_sapiens"/>
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147 <param name="ensembl_prefix" type="hidden" value="Homo_sapiens"/>
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148 <param name="ensembl_genome_version" type="hidden" value="GRCh37"/>
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149 <param name="ensembl_version" type="hidden" value="71"/>
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150 <param name="ncbi_organism" type="hidden" value="Homo_sapiens"/>
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151 <param name="ncbi_prefix" type="hidden" value="Hs"/>
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152 <param name="ucsc_genome_version" type="hidden" value="hg19"/>
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153 <param name="chromosomes" type="hidden" value="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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154 <param name="mt_chromosome" type="hidden" value="MT"/>
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155 <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/>
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156 <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/>
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157 <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/>
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158 </when>
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159 <when value="NCBI36">
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160 <param name="ensembl_organism" type="hidden" value="homo_sapiens"/>
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161 <param name="ensembl_prefix" type="hidden" value="Homo_sapiens"/>
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162 <param name="ensembl_genome_version" type="hidden" value="NCBI36"/>
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163 <param name="ensembl_version" type="hidden" value="54"/>
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164 <param name="ncbi_organism" type="hidden" value="Homo_sapiens"/>
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165 <param name="ncbi_prefix" type="hidden" value="Hs"/>
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166 <param name="ucsc_genome_version" type="hidden" value="hg18"/>
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167 <param name="chromosomes" type="hidden" value="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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168 <param name="mt_chromosome" type="hidden" value="MT"/>
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169 <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/>
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170 <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/>
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171 <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/>
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172 </when>
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173 <when value="GRCm38">
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174 <param name="ensembl_organism" type="hidden" value="mus_musculus"/>
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175 <param name="ensembl_prefix" type="hidden" value="Mus_musculus"/>
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176 <param name="ensembl_genome_version" type="hidden" value="GRCm38"/>
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177 <param name="ensembl_version" type="hidden" value="71"/>
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178 <param name="ncbi_organism" type="hidden" value="Mus_musculus"/>
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179 <param name="ncbi_prefix" type="hidden" value="Mm"/>
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180 <param name="ucsc_genome_version" type="hidden" value="mm10"/>
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181 <param name="chromosomes" type="hidden" value="1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,Y,MT"/>
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182 <param name="mt_chromosome" type="hidden" value="MT"/>
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183 <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/>
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184 <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/>
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185 <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/>
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186 </when>
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187 <when value="NCBIM37">
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188 <param name="ensembl_organism" type="hidden" value="mus_musculus"/>
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189 <param name="ensembl_prefix" type="hidden" value="Mus_musculus"/>
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190 <param name="ensembl_genome_version" type="hidden" value="NCBIM37"/>
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191 <param name="ensembl_version" type="hidden" value="67"/>
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192 <param name="ncbi_organism" type="hidden" value="Mus_musculus"/>
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193 <param name="ncbi_prefix" type="hidden" value="Mm"/>
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194 <param name="ucsc_genome_version" type="hidden" value="mm9"/>
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195 <param name="chromosomes" type="hidden" value="1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,Y,MT"/>
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196 <param name="mt_chromosome" type="hidden" value="MT"/>
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197 <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/>
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198 <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/>
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199 <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/>
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200 </when>
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201 <when value="Rnor_5.0">
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202 <param name="ensembl_organism" type="hidden" value="rattus_norvegicus"/>
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203 <param name="ensembl_prefix" type="hidden" value="Rattus_norvegicus"/>
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204 <param name="ensembl_genome_version" type="hidden" value="Rnor_5.0"/>
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205 <param name="ensembl_version" type="hidden" value="71"/>
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206 <param name="ncbi_organism" type="hidden" value="Rattus_norvegicus"/>
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207 <param name="ncbi_prefix" type="hidden" value="Rn"/>
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208 <param name="ucsc_genome_version" type="hidden" value="rn5"/>
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209 <param name="chromosomes" type="hidden" value="1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,MT"/>
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210 <param name="mt_chromosome" type="hidden" value="MT"/>
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211 <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/>
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212 <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/>
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213 <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/>
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214 </when>
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215 <when value="user_specified">
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216 <param name="ensembl_organism" type="text" value="" label="Ensembl Organism Name">
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217 <help>
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218 Examples: homo_sapiens, mus_musculus, rattus_norvegicus
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219 ftp://ftp.ensembl.org/pub/release-$ensembl_version/fasta/$ensembl_organism/dna/$ensembl_prefix.$ensembl_genome_version.$ensembl_version.dna.chromosome.$chromosome.fa.gz
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220 </help>
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221 </param>
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222 <param name="ensembl_prefix" type="text" value="" label="Ensembl Organism prefix" help="Examples: Homo_sapiens, Mus_musculus, Rattus_norvegicus"/>
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223 <param name="ensembl_genome_version" type="text" value="" label="Ensembl Genome Version" help="Examples: GRCh37, GRCm38, Rnor_5.0"/>
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224 <param name="ensembl_version" type="integer" value="" label="Ensembl Release Version" help="Example: 71"/>
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225 <param name="ncbi_organism" type="text" value="" label="NCBI Organism Name" help="Examples: Homo_sapiens, Mus_musculus, Rattus_norvegicus"/>
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226 <param name="ncbi_prefix" type="text" value="" label="NCBI Organism Unigene prefix" help="Examples: Hs, Mm, Rn"/>
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227 <param name="ucsc_genome_version" type="text" value="" label="UCSC Genome Version" help="Examples: hg19, mm10, rn5"/>
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228 <param name="chromosomes" type="text" value="" label="Chromosomes for Ensembl genome build" >
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229 <help> Examples:
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230 Homo_sapiens: 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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231 Mus_musculus: 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,Y,MT
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232 Rattus_norvegicus: 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,MT
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233 ( ftp://ftp.ensembl.org/pub/release-71/fasta/homo_sapiens/dna/ )
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234 </help>
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235 </param>
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236 <param name="mt_chromosome" type="text" value="MT" label="Ensembl Mitochonrial Chromosome name" />
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237 <param name="gene_sources" type="text" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding" label="Gene sources" />
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238 <param name="ig_gene_sources" type="text" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene" label="IG Gene sources" />
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239 <param name="rrna_gene_sources" type="text" value="Mt_rRNA,rRNA,rRNA_pseudogene" label="Ribosomal Gene sources" />
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240 </when>
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241 </conditional>
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242 </inputs>
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243
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244 <outputs>
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245 <data format="defuse.conf" name="config_txt" label="${tool.name} on ${genome.ensembl_genome_version} : config.txt"/>
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246 </outputs>
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247 <tests>
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248 </tests>
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249 <help>
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250 **DeFuse**
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251
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252 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. See the DeFuse_Version_0.6_ manual for details.
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253
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254 DeFuse uses a Reference Dataset to search for gene fusions. The Reference Dataset is generated from the following sources in DeFuse_Version_0.6_:
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255 - genome_fasta from Ensembl
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256 - gene_models from Ensembl
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257 - repeats_filename from UCSC RepeatMasker rmsk.txt
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258 - est_fasta from UCSC
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259 - est_alignments from UCSC intronEst.txt
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260 - unigene_fasta from NCBI
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261
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262 The create_defuse_reference Galaxy tool downloads the reference genome and other source files, and builds any derivative files including bowtie indices, gmap indices, and 2bit files. Expect this step to take at least 12 hours.
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263
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264
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265 It will generate a config.txt file that can be input into the deFuse Galaxy tool.
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266
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267 Journal reference: http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1001138
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268
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269 .. _DeFuse: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=Main_Page
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270
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271 .. _DeFuse_Version_0.6: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=DeFuse_Version_0.6.1
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272
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273 ------
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274
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275 **Outputs**
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276
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277 The galaxy history will contain: the config.txt file that provides DeFuse with the reference data paths.
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278
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279 </help>
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280 <expand macro="citations"/>
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281 </tool>