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1 <tool id="mutect2" name="MuTect2" version="3.8">
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2 <description>somatic SNP and indel caller</description>
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3 <macros>
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4 <import>mutect2_macros_add_loc.xml</import>
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5 </macros>
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6 <requirements>
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7 <requirement type="package" version="3.8" >gatk</requirement>
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8 <requirement type="package" version="2.7.1" >picard</requirement>
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9 <requirement type="package" version="1.7" >samtools</requirement>
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10 </requirements>
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11 <command>
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12 <![CDATA[
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13 ##creation of .bai the -@ option is used to allocate additional threads
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14 samtools index -@ \${GALAXY_SLOTS:-4} $input1 &&
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15 samtools index -@ \${GALAXY_SLOTS:-4} $input2 &&
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16
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17 ## TODO creation of symlinks because mutect2 want the extensions of the file
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18 ln -s $input1 tumor.bam &&
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19 ln -s $input2 normal.bam &&
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20 ln -s $input1".bai" tumor.bam.bai &&
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21 ln -s $input2".bai" normal.bam.bai &&
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22 #if $reference_source.reference_source_selector == "history"
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23 ln -s $reference_source.ref_file_h genome.fa &&
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24 ln -s $reference_source.ref_file_h".fai" genome.fa.fai &&
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25 #end if
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26 #if $list
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27 ln -s $list position.bed &&
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28 #end if
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29 #if $dbSNP
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30 ln -s $dbSNP dbSNP.vcf &&
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31 #end if
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32 #if $cosmic
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33 ln -s $cosmic cosmic.vcf &&
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34 #end if
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35 #if $alleles
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36 ln -s $alleles alleles.vcf
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37 #end if
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38
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39 ##TODO creation of .dict file of the genome required by mutect2 to run
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40 #if $reference_source.reference_source_selector == "history"
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41 java -jar \$CONDA_PREFIX/share/picard-2.7.1-2/picard.jar CreateSequenceDictionary R= genome.fa O= genome.dict 2>$log &&
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42 #end if
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43
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44 ##TODO gatk mv_untar_gatk take the GenomeAnalysisTK-3.8-0-ge9d806836.tar.bz2 unzip it
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45 ##and move .jar and command is runned
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46 bash $__tool_directory__/mv_untar_gatk.sh &> $log &&
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47
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48 java -jar \$CONDA_PREFIX/../../GenomeAnalysisTK.jar -nct 4 -T MuTect2 -I:tumor tumor.bam -I:normal normal.bam -o $output
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7
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49 #if $reference_source.reference_source_selector == "history"
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50 -R genome.fa
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51 #end if
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52 #if $reference_source.reference_source_selector == "cached"
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53 -R $reference_source.ref_file.fields.path
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54 #end if
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55 ## TODO advanced inputs section if the optional inputs are present their options are added to the command
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56 #if $dbSNP
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57 --dbsnp dbSNP.vcf
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58 #end if
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59 #if $cosmic
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60 --cosmic cosmic.vcf
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61 #end if
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62 #if $list
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63 -L position.bed
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64 #end if
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65 #if $alleles
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66 --alleles alleles.vcf
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67 #end if
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68
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69 ##TODO advanced options section if the options inputs are different from the default value the option is added to the command
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70
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71 #if str($advanced.advanced_parameters) =="show":
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72 #if $advanced.heterozygosity != "0.001"
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73 --heterozygosity $advanced.heterozygosity
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74 #end if
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75 #if $advanced.heterozygosity_stdev != "0.01"
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76 --heterozygosity_stdev $advanced.heterozygosity_stdev
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77 #end if
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78 #if $advanced.indel_heterozygosity != "1.25E-4"
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79 --indel_heterozygosity $advanced.indel_heterozygosity
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80 #end if
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81 #if $advanced.initial_normal_lod != "0.5"
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82 --initial_normal_lod $advanced.initial_normal_lod
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83 #end if
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84 #if $advanced.initial_tumor_lod != "4.0"
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85 --initial_tumor_lod $advanced.initial_tumor_lod
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86 #end if
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87 #if $advanced.max_alt_allele_in_normal_fraction != "0.03"
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88 --max_alt_allele_in_normal_fraction $advanced.max_alt_allele_in_normal_fraction
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89 #end if
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90 #if $advanced.max_alt_alleles_in_normal_count != "1"
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91 --max_alt_alleles_in_normal_count $advanced.max_alt_alleles_in_normal_count
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92 #end if
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93 #if $advanced.max_alt_alleles_in_normal_qscore_sum != "20"
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94 --max_alt_alleles_in_normal_qscore_sum $advanced.max_alt_alleles_in_normal_qscore_sum
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95 #end if
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96 #if $advanced.maxReadsInRegionPerSample != "1000"
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97 --maxReadsInRegionPerSample $advanced.maxReadsInRegionPerSample
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98 #end if
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99 #if $advanced.min_base_quality_score != "10"
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100 --min_base_quality_score $advanced.min_base_quality_score
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101 #end if
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102 #if $advanced.minReadsPerAlignmentStart != "5"
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103 --minReadsPerAlignmentStart $advanced.minReadsPerAlignmentStart
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104 #end if
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105 #if $advanced.normal_lod != "2.2"
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106 --normal_lod $advanced.normal_lod
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107 #end if
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108 #if $advanced.pir_mad_threshold != "3.0"
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109 --pir_mad_threshold $advanced.pir_mad_threshold
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110 #end if
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111 #if $advanced.pir_median_threshold != "10.0"
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112 --pir_median_threshold $advanced.pir_median_threshold
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113 #end if
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114 #if $advanced.power_constant_qscore != "30"
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115 --power_constant_qscore $advanced.power_constant_qscore
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116 #end if
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117 #if $advanced.sample_ploidy != "2"
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118 --sample_ploidy $advanced.sample_ploidy
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119 #end if
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120 #if $advanced.standard_min_confidence_threshold_for_calling != "10.0"
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121 --standard_min_confidence_threshold_for_calling $advanced.standard_min_confidence_threshold_for_calling
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122 #end if
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123 #if $advanced.tumor_lod != "6.3"
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124 --tumor_lod $advanced.tumor_lod
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125 #end if
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126 #if $advanced.contamination_fraction_to_filter != "0.0"
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127 --contamination_fraction_to_filter $contamination_fraction_to_filter
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128 #end if
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129 #if $advanced.dbsnp_normal_lod != "5.5"
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130 --dbsnp_normal_lod $dbsnp_normal_lod
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131 #end if
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132 #if $advanced.debug_read_name != ""
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133 --debug_read_name $debug_read_name
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134 #end if
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135 #if $advanced.genotyping_mode != "DISCOVERY"
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136 --genotyping_mode $genotyping_mode
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137 #end if
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138 #if $advanced.group
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139 --group $advanced.group
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140 #end if
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141 #end if
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142
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143 ##TODO output section --> if the option string == "yes" the optional output is added
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144 #if str($optional_out1.outFile1) =="yes"
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145 --activeRegionOut $activeRegionOut_output
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146 #end if
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147 #if str($optional_out2.outFile2) =="yes"
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148 --activityProfileOut $activityProfileOut_output
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149 #end if
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150 #if str($optional_out3.outFile3) =="yes"
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151 --graphOutput $graphOutput_output
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152 #end if
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153 #if str($optional_out4.outFile4) =="yes"
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154 --bamOutput $bamOutput_output
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155 #end if
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156 ##TODO the standard error is redirected to the log file
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157 2> $log
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158 ]]></command>
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159 <inputs>
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160 <expand macro="reference_loc"/>
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161 <param format="bam" name="input1" type="data" label="tumor bam" help="bamfile"/>
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162 <param format="bam" name="input2" type="data" label="normal bam" help="bamfile"/>
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163 <param format="vcf" name="dbSNP" type="data" optional="true" label="dbsnp file.vcf" help="vcf file"/>
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164 <param format="vcf" name="cosmic" type="data" optional="true" label="cosmic file.vcf" help="vcf file"/>
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165 <param format="bed" name="list" type="data" optional="true" label="position list" help="bed file"/>
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166 <param format="vcf" name="alleles" type="data" optional="true" label="set of alleles use in genotyping" help="vcf file"/>
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167 <conditional name="advanced">
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168 <param name="advanced_parameters" type="select" label="advanced_parameters">
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169 <option value="hide" selected="true">Hide</option>
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170 <option value="show">Show</option>
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171 </param>
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172 <when value="hide"/>
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173 <when value="show">
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174 <param name="heterozygosity" type="float" optional="true" value="0.001" help="Heterozygosity value used to compute prior likelihoods for any locus" />
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175 <param name="heterozygosity_stdev" type="float" optional="true" value="0.01" help="Standard deviation of eterozygosity for SNP and indel calling"/>
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176 <param name="indel_heterozygosity" type="text" value="1.25E-4" optional="true" help="Heterozygosity for indel calling" />
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177 <param name="initial_normal_lod" type="float" optional="true" value="0.5" help="Initial LOD threshold for calling normal variant" />
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178 <param name="initial_tumor_lod" type="float" optional="true" value="4.0" help="Initial LOD threshold for calling tumor variant" />
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179 <param name="max_alt_allele_in_normal_fraction" type="float" optional="true" value="0.03" help="Threshold for maximum alternate allele fraction in normal" />
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180 <param name="max_alt_alleles_in_normal_count" type="text" optional="true" value="1" help="Threshold for maximum alternate allele counts in normal" />
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181 <param name="max_alt_alleles_in_normal_qscore_sum" type="text" optional="true" value="20" help="Threshold for maximum alternate allele quality score sum in normal" />
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182 <param name="maxReadsInRegionPerSample" type="text" optional="true" value="1000" help="Maximum reads in an active region" />
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183 <param name="min_base_quality_score" type="text" size="2" optional="true" value="10" help="Minimum base quality required to consider a base for calling" />
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184 <param name="minReadsPerAlignmentStart" type="text" optional="true" value="5" help="Minimum number of reads sharing the same alignment start for each genomic location in an active region" />
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185 <param name="normal_lod" type="float" optional="true" value="2.2" help="LOD threshold for calling normal non-germline" />
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186 <param name="pir_mad_threshold" type="float" optional="true" value="3.0" help="threshold for clustered read position artifact MAD" />
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187 <param name="pir_median_threshold" type="float" optional="true" value="10.0" help="threshold for clustered read position artifact median" />
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188 <param name="power_constant_qscore" type="text" optional="true" value="30" help="Phred scale quality score constant to use in power calculations" />
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189 <param name="sample_ploidy" type="text" optional="true" value="2" help="ploidy per sample" />
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190 <param name="standard_min_confidence_threshold_for_calling" type="float" optional="true" value="10.0" help="The minimum phred-scaled confidence threshold at which variants should be called" />
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191 <param name="tumor_lod" type="float" optional="true" value="6.3" help="LOD threshold for calling tumor variant" />
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192 <param name="contamination_fraction_to_filter" type="float" optional="true" value="0.0" help="Fraction of contamination to aggressively remove" />
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193 <param name="dbsnp_normal_lod" type="float" optional="true" value="5.5" help="LOD threshold for calling normal non-variant at dbsnp sites" />
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194 <param name="debug_read_name" type="text" optional="true" value="" help="trace this read name through the calling process" />
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195 <param name="genotyping_mode" type="select" optional="true" help="Specifies how to determine the alternate alleles to use for genotyping" >
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196 <option value="DISCOVERY" selected="true">DISCOVERY</option>
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197 <option value="GENOTYPE_GIVEN_ALLELES">GENOTYPE_GIVEN_ALLELES</option>
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198 </param>
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199 <param name="group" type="text" optional="true" help="one or more classes, groups of annotation to apply to variant call" />
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200 </when>
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201 </conditional>
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202 <conditional name="optional_out1">
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203 <param name="outFile1" type="select" label="activeRegionOut">
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204 <option value="no" selected="true">no</option>
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205 <option value="yes">yes</option>
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206 </param>
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207 <when value="no"/>
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208 <when value="yes"/>
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209 </conditional>
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210 <conditional name="optional_out2">
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211 <param name="outFile2" type="select" label="activityprofileOut">
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212 <option value="no" selected="true">no</option>
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213 <option value="yes">yes</option>
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214 </param>
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215 <when value="no"/>
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216 <when value="yes"/>
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217 </conditional>
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218 <conditional name="optional_out3">
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219 <param name="outFile3" type="select" label="graphOutput">
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220 <option value="no" selected="true">no</option>
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221 <option value="yes">yes</option>
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222 </param>
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223 <when value="no"/>
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224 <when value="yes"/>
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225 </conditional>
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226 <conditional name="optional_out4">
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227 <param name="outFile4" type="select" label="Bamoutput">
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228 <option value="no" selected="true">no</option>
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229 <option value="yes">yes</option>
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230 </param>
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231 <when value="no"/>
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232 <when value="yes"/>
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233 </conditional>
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234 </inputs>
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235 <outputs>
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236 <data format="vcf" name="output" label="${tool.name} on ${on_string}"/>
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237 <data format="txt" name="log" label="${tool.name} on ${on_string} :log"/>
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238 <data format="txt" name="activeRegionOut_output" optional="true" label="${tool.name} on ${on_string} :activeRegionOut">
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239 <filter>optional_out1['outFile1'] == 'yes'</filter>
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240 </data>
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241 <data format="txt" name="activityProfileOut_output" label="${tool.name} on ${on_string} :activityProfileOut">
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242 <filter>optional_out2['outFile2'] == 'yes'</filter>
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243 </data>
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244 <data format="txt" name="graphOutput_output" label="${tool.name} on ${on_string} :graphOutput">
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245 <filter>optional_out3['outFile3'] == 'yes'</filter>
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246 </data>
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247 <data format="txt" name="bamOutput_output" label="${tool.name} on ${on_string} :bamOutput">
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248 <filter>optional_out4['outFile4'] == 'yes'</filter>
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249 </data>
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250 </outputs>
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251 <tests>
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252 <test>
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253 <conditional name="reference_source">
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254 <param name="reference_source_selector" value="history"/>
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255 <param name="ref_file" value="test_fasta.fa"/>
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256 </conditional>
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257 <param name="input1" value="mutect2_test_tumoral2.bam" />
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258 <param name="input2" value="mutect2_test_normal2.bam" />
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259 </test>
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260 </tests>
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261 <help>
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262 **IMPORTANT** to get the wrapper ready to start the admin user have to download gatk GATK 3.8-0-ge9d806836 from the broadinstitute site https://software.broadinstitute.org/gatk/download/archive and then move it in the conda_prefix folder
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263 the path of the conda_prefix is written in the galaxy.ini(or .yml) file
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264
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265 MuTect2 is a somatic SNP and indel caller that combines the DREAM challenge-winning somatic genotyping engine of the original MuTect (Cibulskis et al., 2013) with the assembly-based machinery of HaplotypeCaller.
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266 Galaxy wrapper for MuTect2 implements most but not all options available through the command line. Supported options are described below.
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267
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268 **Optional Inputs**
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269
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270 + --alleles none Set of alleles to use in genotyping
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271 + --cosmic [] VCF file of COSMIC sites
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272 + --dbsnp none dbSNP file
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273 + --activityProfileOut NA Output the raw activity profile results in IGV format
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274 + --graphOutput NA Write debug assembly graph information to this file
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275
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276 **Optional Parameters**
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277
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278 + --contamination_fraction_to_filter 0.0 Fraction of contamination to aggressively remove
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279 + --dbsnp_normal_lod 5.5 LOD threshold for calling normal non-variant at dbsnp sites
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280 + --debug_read_name NA trace this read name through the calling process
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281 + --genotyping_mode DISCOVERY Specifies how to determine the alternate alleles to use for genotyping
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282 + --group [] One or more classes/groups of annotations to apply to variant calls
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283 + --heterozygosity 0.001 Heterozygosity value used to compute prior likelihoods for any locus
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284 + --heterozygosity_stdev 0.01 Standard deviation of eterozygosity for SNP and indel calling
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285 + --indel_heterozygosity 1.25E-4 Heterozygosity for indel calling
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286 + --initial_normal_lod 0.5 Initial LOD threshold for calling normal variant
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287 + --initial_tumor_lod 4.0 Initial LOD threshold for calling tumor variant
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288 + --max_alt_allele_in_normal_fraction 0.03 Threshold for maximum alternate allele fraction in normal
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289 + --max_alt_alleles_in_normal_count 1 Threshold for maximum alternate allele counts in normal
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290 + --max_alt_alleles_in_normal_qscore_sum 20 Threshold for maximum alternate allele quality score sum in normal
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291 + --maxReadsInRegionPerSample 1000 Maximum reads in an active region
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292 + --min_base_quality_score 10 Minimum base quality required to consider a base for calling
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293 + --minReadsPerAlignmentStart 5 Minimum number of reads sharing the same alignment start for each genomic location in an active region
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294 + --normal_lod 2.2 LOD threshold for calling normal non-germline
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295 + --pir_mad_threshold 3.0 threshold for clustered read position artifact MAD
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296 + --pir_median_threshold 10.0 threshold for clustered read position artifact median
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297 + --power_constant_qscore 30 Phred scale quality score constant to use in power calculations
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298 + --sample_ploidy 2 Ploidy per sample. For pooled data, set to (Number of samples in each pool * Sample Ploidy).
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299 + --standard_min_confidence_threshold_for_calling 10.0 The minimum phred-scaled confidence threshold at which variants should be called
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300 + --tumor_lod 6.3 LOD threshold for calling tumor variant
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301
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302 **Advanced Outputs**
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303
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304 + --bamOutput
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305 + --activeRegionOut
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306 + --activityProfileOut
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307 + --graphOutput
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308
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309 more information at https://software.broadinstitute.org/gatk/documentation/tooldocs/3.8-0/org_broadinstitute_gatk_tools_walkers_cancer_m2_MuTect2.php
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310 </help>
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311 <citations>
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312 <citation type="doi">10.1038/nbt.2514</citation>
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313 </citations>
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314 </tool>
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