annotate variant_eval.xml @ 37:dd9f8ea2b718 draft

unified_genotyper - indelGap penalty param need to be integer values
author Jim Johnson <jj@umn.edu>
date Fri, 01 Mar 2013 12:43:41 -0600
parents 14d47237bb0a
children
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1 <tool id="gatk2_variant_eval" name="Eval Variants" version="0.0.7">
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2 <description></description>
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3 <requirements>
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4 <requirement type="package" version="2.3">gatk</requirement>
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5 </requirements>
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6 <command interpreter="python">gatk2_wrapper.py
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7 #from binascii import hexlify
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8 --max_jvm_heap_fraction "1"
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9 --stdout "${output_log}"
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10 #for $var_count, $variant in enumerate( $reference_source.variants ):
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11 -d "--eval:input_${var_count},%(file_type)s" "${variant.input_variant}" "${variant.input_variant.ext}" "input_variants_${var_count}"
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12 #end for
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13 -p 'java
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14 -jar "\$GATK2_PATH/GenomeAnalysisTK.jar"
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15 -T "VariantEval"
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16 --out "${output_report}"
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17 \$GATK2_SITE_OPTIONS
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18 \$GATK2_NUM_THREADS
0
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19 ##--num_threads 4 ##hard coded, for now
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20 ##-et "NO_ET" -K "\$GATK2_BASE/gatk2_key_file" ##ET no phone home
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21 ##-log "${output_log}" ##don't use this to log to file, instead directly capture stdout
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22 #if $reference_source.reference_source_selector != "history":
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23 -R "${reference_source.ref_file.fields.path}"
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24 #end if
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25 '
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26
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27 #for $rod_binding in $comp_rod_bind:
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28 -d "--comp:${rod_binding.comp_rod_name},%(file_type)s" "${rod_binding.comp_input_rod}" "${rod_binding.comp_input_rod.ext}" "input_comp_${rod_binding.comp_rod_name}"
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29 #if str( $rod_binding.comp_known_names ):
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30 -p '--known_names "${rod_binding.comp_rod_name}"'
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31 #end if
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32 #end for
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33
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34 #if str( $dbsnp_rod_bind_type.dbsnp_rod_bind_type_selector ) == 'set_dbsnp':
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35 -d "--dbsnp:${dbsnp_rod_bind_type.dbsnp_rod_name},%(file_type)s" "${dbsnp_rod_bind_type.dbsnp_input_rod}" "${dbsnp_rod_bind_type.dbsnp_input_rod.ext}" "input_dbsnp_${dbsnp_rod_bind_type.dbsnp_rod_name}"
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36 #if str( $dbsnp_rod_bind_type.dbsnp_known_names ):
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37 -p '--known_names "${dbsnp_rod_bind_type.dbsnp_rod_name}"'
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38 #end if
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39 #end if
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40
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41 ##start standard gatk options
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42 #if $gatk_param_type.gatk_param_type_selector == "advanced":
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43 #for $pedigree in $gatk_param_type.pedigree:
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44 -p '--pedigree "${pedigree.pedigree_file}"'
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45 #end for
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46 #for $pedigree_string in $gatk_param_type.pedigree_string_repeat:
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47 -p '--pedigreeString "${pedigree_string.pedigree_string}"'
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48 #end for
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49 -p '--pedigreeValidationType "${gatk_param_type.pedigree_validation_type}"'
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50 #set default_read_filters = ['DuplicateRead','FailsVendorQualityCheck','NotPrimaryAlignment','MalformedRead','UnmappedRead']
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51 #for $read_filter in $gatk_param_type.read_filter:
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52 -p '
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53 #if $read_filter.read_filter_type.read_filter_type_selector not in $default_read_filters:
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54 --read_filter "${read_filter.read_filter_type.read_filter_type_selector}"
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55 #end if
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56 #for $name, $param in $read_filter.read_filter_type.iteritems():
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57 #if $name not in [ "__current_case__", "read_filter_type_selector" ]:
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58 #if hasattr( $param.input, 'truevalue' ):
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59 ${param}
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60 #else:
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61 --${name} "${param}"
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62 #end if
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63 #end if
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64 #end for
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65 '
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66 #end for
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67 #for $interval_count, $input_intervals in enumerate( $gatk_param_type.input_interval_repeat ):
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68 -d "--intervals" "${input_intervals.input_intervals}" "${input_intervals.input_intervals.ext}" "input_intervals_${interval_count}"
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69 #end for
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70
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71 #for $interval_count, $input_intervals in enumerate( $gatk_param_type.input_exclude_interval_repeat ):
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72 -d "--excludeIntervals" "${input_intervals.input_exclude_intervals}" "${input_intervals.input_exclude_intervals.ext}" "input_exlude_intervals_${interval_count}"
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73 #end for
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74
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75 -p '--interval_set_rule "${gatk_param_type.interval_set_rule}"'
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76
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77 -p '--downsampling_type "${gatk_param_type.downsampling_type.downsampling_type_selector}"'
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78 #if str( $gatk_param_type.downsampling_type.downsampling_type_selector ) != "NONE":
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79 -p '--${gatk_param_type.downsampling_type.downsample_to_type.downsample_to_type_selector} "${gatk_param_type.downsampling_type.downsample_to_type.downsample_to_value}"'
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80 #end if
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81 -p '
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82 --baq "${gatk_param_type.baq}"
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83 --baqGapOpenPenalty "${gatk_param_type.baq_gap_open_penalty}"
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84 ${gatk_param_type.use_original_qualities}
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85 --defaultBaseQualities "${gatk_param_type.default_base_qualities}"
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86 --validation_strictness "${gatk_param_type.validation_strictness}"
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87 --interval_merging "${gatk_param_type.interval_merging}"
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88 ${gatk_param_type.disable_experimental_low_memory_sharding}
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89 ${gatk_param_type.fix_misencoded_quality_scores}
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90 ${gatk_param_type.non_deterministic_random_seed}
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91 '
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92 #for $rg_black_list_count, $rg_black_list in enumerate( $gatk_param_type.read_group_black_list_repeat ):
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93 #if $rg_black_list.read_group_black_list_type.read_group_black_list_type_selector == "file":
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94 -d "--read_group_black_list" "${rg_black_list.read_group_black_list_type.read_group_black_list}" "txt" "input_read_group_black_list_${rg_black_list_count}"
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95 #else
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96 -p '--read_group_black_list "${rg_black_list.read_group_black_list_type.read_group_black_list}"'
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97 #end if
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98 #end for
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99 #end if
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100
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101 #if $reference_source.reference_source_selector == "history":
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102 -d "-R" "${reference_source.ref_file}" "${reference_source.ref_file.ext}" "gatk_input"
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103 #end if
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104 ##end standard gatk options
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105
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106
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107 ##start analysis specific options
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108 #if $analysis_param_type.analysis_param_type_selector == "advanced":
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109 #for $stratification in $analysis_param_type.stratifications:
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110 #set $select_string = "--select_exps '%s' --select_names '%s'" % ( str( $stratification.select_exps ), str( $stratification.select_name ) )
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111 -o '${ hexlify( $select_string ) }'
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112 #end for
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113 -p '
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114
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115 #for $sample in $analysis_param_type.samples:
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116 --sample "${sample.sample}"
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117 #end for
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118
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119 #if str( $analysis_param_type.stratification_modules ) != "None":
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120 #for $stratification_module in str( $analysis_param_type.stratification_modules).split( ',' ):
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121 --stratificationModule "${stratification_module}"
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122 #end for
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123 #end if
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124
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125 ${analysis_param_type.do_not_use_all_standard_stratifications}
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126
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127 #for $variant_type in $analysis_param_type.only_variants_of_type:
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128 --onlyVariantsOfType "${variant_type.variant_type}"
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129 #end for
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130
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131 #if str( $analysis_param_type.eval_modules ) != "None":
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132 #for $eval_module in str( $analysis_param_type.eval_modules).split( ',' ):
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133 --evalModule "${eval_module}"
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134 #end for
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135 #end if
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136
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137 ${analysis_param_type.do_not_use_all_standard_modules}
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138
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139 #if str( $analysis_param_type.num_samples ) != "0":
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140 --numSamples "${analysis_param_type.num_samples}"
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141 #end if
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142
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143 --minPhaseQuality "${analysis_param_type.min_phase_quality}"
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144
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145 #if str( $analysis_param_type.family ):
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146 --family_structure "${analysis_param_type.family}"
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147 #end if
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148
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149 --mendelianViolationQualThreshold "${analysis_param_type.mendelian_violation_qual_threshold}"
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150
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151 #if str( $analysis_param_type.ancestral_alignments ) != "None":
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152 --ancestralAlignments "${analysis_param_type.ancestral_alignments}"
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153 #end if
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154 '
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155 #if str( $analysis_param_type.known_cnvs ) != "None":
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156 -d "--knownCNVs" "${analysis_param_type.known_cnvs}" "${analysis_param_type.known_cnvs.ext}" "input_known_cnvs"
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157 #end if
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158
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159 #if str( $analysis_param_type.strat_intervals ) != "None":
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160 -d "--stratIntervals" "${analysis_param_type.strat_intervals}" "${analysis_param_type.strat_intervals.ext}" "input_strat_intervals"
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161 #end if
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162 #end if
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163 </command>
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164 <inputs>
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165
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166 <conditional name="reference_source">
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167 <param name="reference_source_selector" type="select" label="Choose the source for the reference list">
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168 <option value="cached">Locally cached</option>
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169 <option value="history">History</option>
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170 </param>
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171 <when value="cached">
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172 <repeat name="variants" title="Variant" min="1" help="-eval,--eval &amp;lt;eval&amp;gt;">
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173 <param name="input_variant" type="data" format="vcf" label="Input variant file" />
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174 </repeat>
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175 <param name="ref_file" type="select" label="Using reference genome" help="-R,--reference_sequence &amp;lt;reference_sequence&amp;gt;">
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176 <options from_data_table="gatk2_picard_indexes">
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177 <!-- <filter type="data_meta" key="dbkey" ref="input_variant" column="dbkey"/> -->
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178 </options>
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jjohnson
parents:
diff changeset
179 <validator type="no_options" message="A built-in reference genome is not available for the build associated with the selected input file"/>
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jjohnson
parents:
diff changeset
180 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
181 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
182 <when value="history"> <!-- FIX ME!!!! -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
183 <repeat name="variants" title="Variant" min="1" help="-eval,--eval &amp;lt;eval&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
184 <param name="input_variant" type="data" format="vcf" label="Input variant file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
185 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
186 <param name="ref_file" type="data" format="fasta" label="Using reference file" help="-R,--reference_sequence &amp;lt;reference_sequence&amp;gt;" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
187 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
188 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
189
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jjohnson
parents:
diff changeset
190 <repeat name="comp_rod_bind" title="Binding for reference-ordered comparison data" help="-comp,--comp &amp;lt;comp&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
191 <param name="comp_input_rod" type="data" format="vcf" label="Comparison ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
192 <param name="comp_rod_name" type="text" value="Unnamed" label="Comparison ROD Name"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
193 <param name="comp_known_names" type="boolean" truevalue="--known_names" falsevalue="" label="Use Comparison ROD as known_names" help="-knownName,--known_names &amp;lt;known_names&amp;gt;"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
194 </repeat>
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jjohnson
parents:
diff changeset
195
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jjohnson
parents:
diff changeset
196 <conditional name="dbsnp_rod_bind_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
197 <param name="dbsnp_rod_bind_type_selector" type="select" label="Provide a dbSNP reference-ordered data file" help="-D,--dbsnp &amp;lt;dbsnp&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
198 <option value="set_dbsnp" selected="True">Set dbSNP</option>
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jjohnson
parents:
diff changeset
199 <option value="exclude_dbsnp">Don't set dbSNP</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
200 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
201 <when value="exclude_dbsnp">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
202 <!-- Do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
203 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
204 <when value="set_dbsnp">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
205 <param name="dbsnp_input_rod" type="data" format="vcf" label="dbSNP ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
206 <param name="dbsnp_rod_name" type="hidden" value="dbsnp" label="dbSNP ROD Name"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
207 <param name="dbsnp_known_names" type="boolean" truevalue="--known_names" falsevalue="" label="Use dbSNP ROD as known_names" help="-knownName,--known_names &amp;lt;known_names&amp;gt;" />
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jjohnson
parents:
diff changeset
208 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
209 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
210
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
211 <conditional name="gatk_param_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
212 <param name="gatk_param_type_selector" type="select" label="Basic or Advanced GATK options">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
213 <option value="basic" selected="True">Basic</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
214 <option value="advanced">Advanced</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
215 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
216 <when value="basic">
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jjohnson
parents:
diff changeset
217 <!-- Do nothing here -->
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jjohnson
parents:
diff changeset
218 </when>
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jjohnson
parents:
diff changeset
219 <when value="advanced">
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jjohnson
parents:
diff changeset
220 <repeat name="pedigree" title="Pedigree file" help="-ped,--pedigree &amp;lt;pedigree&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
221 <param name="pedigree_file" type="data" format="txt" label="Pedigree files for samples"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
222 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
223 <repeat name="pedigree_string_repeat" title="Pedigree string" help="-pedString,--pedigreeString &amp;lt;pedigreeString&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
224 <param name="pedigree_string" type="text" value="" label="Pedigree string for samples"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
225 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
226 <param name="pedigree_validation_type" type="select" label="How strict should we be in validating the pedigree information" help="-pedValidationType,--pedigreeValidationType &amp;lt;pedigreeValidationType&amp;gt;">
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jjohnson
parents:
diff changeset
227 <option value="STRICT" selected="True">STRICT</option>
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jjohnson
parents:
diff changeset
228 <option value="SILENT">SILENT</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
229 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
230 <repeat name="read_filter" title="Read Filter" help="-rf,--read_filter &amp;lt;read_filter&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
231 <conditional name="read_filter_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
232 <param name="read_filter_type_selector" type="select" label="Read Filter Type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
233 <option value="BadCigar">BadCigar</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
234 <option value="BadMate">BadMate</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
235 <option value="DuplicateRead">DuplicateRead</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
236 <option value="FailsVendorQualityCheck">FailsVendorQualityCheck</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
237 <option value="MalformedRead">MalformedRead</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
238 <option value="MappingQuality">MappingQuality</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
239 <option value="MappingQualityUnavailable">MappingQualityUnavailable</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
240 <option value="MappingQualityZero">MappingQualityZero</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
241 <option value="MateSameStrand">MateSameStrand</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
242 <option value="MaxInsertSize">MaxInsertSize</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
243 <option value="MaxReadLength" selected="True">MaxReadLength</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
244 <option value="MissingReadGroup">MissingReadGroup</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
245 <option value="NoOriginalQualityScores">NoOriginalQualityScores</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
246 <option value="NotPrimaryAlignment">NotPrimaryAlignment</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
247 <option value="Platform454">Platform454</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
248 <option value="Platform">Platform</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
249 <option value="PlatformUnit">PlatformUnit</option>
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jjohnson
parents:
diff changeset
250 <option value="ReadGroupBlackList">ReadGroupBlackList</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
251 <option value="ReadName">ReadName</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
252 <option value="ReadStrand">ReadStrand</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
253 <option value="ReassignMappingQuality">ReassignMappingQuality</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
254 <option value="Sample">Sample</option>
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jjohnson
parents:
diff changeset
255 <option value="SingleReadGroup">SingleReadGroup</option>
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jjohnson
parents:
diff changeset
256 <option value="UnmappedRead">UnmappedRead</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
257 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
258 <when value="BadCigar">
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jjohnson
parents:
diff changeset
259 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
260 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
261 <when value="BadMate">
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jjohnson
parents:
diff changeset
262 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
263 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
264 <when value="DuplicateRead">
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jjohnson
parents:
diff changeset
265 <!-- no extra options -->
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jjohnson
parents:
diff changeset
266 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
267 <when value="FailsVendorQualityCheck">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
268 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
269 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
270 <when value="MalformedRead">
35
a29c7d7d962d Fix default read filter screening
Jim Johnson <jj@umn.edu>
parents: 34
diff changeset
271 <param name="filter_mismatching_base_and_quals" type="boolean" truevalue="--filter_mismatching_base_and_quals" falsevalue="" checked="false" label="filter out the reads with mismatching number of bases and base qualities" help="filter out the mismatch reads instead of quitting with an error"/>
0
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
272 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
273 <when value="MappingQuality">
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jjohnson
parents:
diff changeset
274 <param name="min_mapping_quality_score" type="integer" value="10" label="Minimum read mapping quality required to consider a read for calling"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
275 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
276 <when value="MappingQualityUnavailable">
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jjohnson
parents:
diff changeset
277 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
278 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
279 <when value="MappingQualityZero">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
280 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
281 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
282 <when value="MateSameStrand">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
283 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
284 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
285 <when value="MaxInsertSize">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
286 <param name="maxInsertSize" type="integer" value="1000000" label="Discard reads with insert size greater than the specified value"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
287 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
288 <when value="MaxReadLength">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
289 <param name="maxReadLength" type="integer" value="76" label="Max Read Length"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
290 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
291 <when value="MissingReadGroup">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
292 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
293 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
294 <when value="NoOriginalQualityScores">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
295 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
296 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
297 <when value="NotPrimaryAlignment">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
298 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
299 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
300 <when value="Platform454">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
301 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
302 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
303 <when value="Platform">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
304 <param name="PLFilterName" type="text" value="" label="Discard reads with RG:PL attribute containing this string"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
305 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
306 <when value="PlatformUnit">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
307 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
308 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
309 <when value="ReadGroupBlackList">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
310 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
311 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
312 <when value="ReadName">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
313 <param name="readName" type="text" value="" label="Filter out all reads except those with this read name"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
314 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
315 <when value="ReadStrand">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
316 <param name="filterPositive" type="boolean" truevalue="--filterPositive" falsevalue="" label="Discard reads on the forward strand"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
317 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
318 <when value="ReassignMappingQuality">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
319 <param name="default_mapping_quality" type="integer" value="60" label="Default read mapping quality to assign to all reads"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
320 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
321 <when value="Sample">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
322 <param name="sample_to_keep" type="text" value="" label="The name of the sample(s) to keep, filtering out all others"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
323 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
324 <when value="SingleReadGroup">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
325 <param name="read_group_to_keep" type="integer" value="76" label="The name of the read group to keep, filtering out all others"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
326 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
327 <when value="UnmappedRead">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
328 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
329 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
330 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
331 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
332 <repeat name="input_interval_repeat" title="Operate on Genomic intervals" help="-L,--intervals &amp;lt;intervals&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
333 <param name="input_intervals" type="data" format="bed,gatk_interval,picard_interval_list,vcf" label="Genomic intervals" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
334 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
335 <repeat name="input_exclude_interval_repeat" title="Exclude Genomic intervals" help="-XL,--excludeIntervals &amp;lt;excludeIntervals&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
336 <param name="input_exclude_intervals" type="data" format="bed,gatk_interval,picard_interval_list,vcf" label="Genomic intervals" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
337 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
338
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
339 <param name="interval_set_rule" type="select" label="Interval set rule" help="-isr,--interval_set_rule &amp;lt;interval_set_rule&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
340 <option value="UNION" selected="True">UNION</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
341 <option value="INTERSECTION">INTERSECTION</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
342 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
343
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
344 <conditional name="downsampling_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
345 <param name="downsampling_type_selector" type="select" label="Type of reads downsampling to employ at a given locus" help="-dt,--downsampling_type &amp;lt;downsampling_type&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
346 <option value="NONE" selected="True">NONE</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
347 <option value="ALL_READS">ALL_READS</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
348 <option value="BY_SAMPLE">BY_SAMPLE</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
349 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
350 <when value="NONE">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
351 <!-- no more options here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
352 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
353 <when value="ALL_READS">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
354 <conditional name="downsample_to_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
355 <param name="downsample_to_type_selector" type="select" label="Downsample method">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
356 <option value="downsample_to_fraction" selected="True">Downsample by Fraction</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
357 <option value="downsample_to_coverage">Downsample by Coverage</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
358 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
359 <when value="downsample_to_fraction">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
360 <param name="downsample_to_value" type="float" label="Fraction [0.0-1.0] of reads to downsample to" value="1" min="0" max="1" help="-dfrac,--downsample_to_fraction &amp;lt;downsample_to_fraction&amp;gt;"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
361 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
362 <when value="downsample_to_coverage">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
363 <param name="downsample_to_value" type="integer" label="Coverage to downsample to at any given locus" value="0" help="-dcov,--downsample_to_coverage &amp;lt;downsample_to_coverage&amp;gt;"/>
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jjohnson
parents:
diff changeset
364 </when>
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jjohnson
parents:
diff changeset
365 </conditional>
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jjohnson
parents:
diff changeset
366 </when>
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jjohnson
parents:
diff changeset
367 <when value="BY_SAMPLE">
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jjohnson
parents:
diff changeset
368 <conditional name="downsample_to_type">
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jjohnson
parents:
diff changeset
369 <param name="downsample_to_type_selector" type="select" label="Downsample method">
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jjohnson
parents:
diff changeset
370 <option value="downsample_to_fraction" selected="True">Downsample by Fraction</option>
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jjohnson
parents:
diff changeset
371 <option value="downsample_to_coverage">Downsample by Coverage</option>
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jjohnson
parents:
diff changeset
372 </param>
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jjohnson
parents:
diff changeset
373 <when value="downsample_to_fraction">
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jjohnson
parents:
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374 <param name="downsample_to_value" type="float" label="Fraction [0.0-1.0] of reads to downsample to" value="1" min="0" max="1" help="-dfrac,--downsample_to_fraction &amp;lt;downsample_to_fraction&amp;gt;"/>
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jjohnson
parents:
diff changeset
375 </when>
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jjohnson
parents:
diff changeset
376 <when value="downsample_to_coverage">
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jjohnson
parents:
diff changeset
377 <param name="downsample_to_value" type="integer" label="Coverage to downsample to at any given locus" value="0" help="-dcov,--downsample_to_coverage &amp;lt;downsample_to_coverage&amp;gt;"/>
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jjohnson
parents:
diff changeset
378 </when>
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jjohnson
parents:
diff changeset
379 </conditional>
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jjohnson
parents:
diff changeset
380 </when>
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jjohnson
parents:
diff changeset
381 </conditional>
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jjohnson
parents:
diff changeset
382 <param name="baq" type="select" label="Type of BAQ calculation to apply in the engine" help="-baq,--baq &amp;lt;baq&amp;gt;">
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jjohnson
parents:
diff changeset
383 <option value="OFF" selected="True">OFF</option>
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jjohnson
parents:
diff changeset
384 <option value="CALCULATE_AS_NECESSARY">CALCULATE_AS_NECESSARY</option>
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jjohnson
parents:
diff changeset
385 <option value="RECALCULATE">RECALCULATE</option>
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jjohnson
parents:
diff changeset
386 </param>
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jjohnson
parents:
diff changeset
387 <param name="baq_gap_open_penalty" type="float" label="BAQ gap open penalty (Phred Scaled)" value="40" help="Default value is 40. 30 is perhaps better for whole genome call sets. -baqGOP,--baqGapOpenPenalty &amp;lt;baqGapOpenPenalty&amp;gt;" />
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jjohnson
parents:
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388 <param name="use_original_qualities" type="boolean" truevalue="--useOriginalQualities" falsevalue="" label="Use the original base quality scores from the OQ tag" help="-OQ,--useOriginalQualities" />
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jjohnson
parents:
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389 <param name="default_base_qualities" type="integer" label="Value to be used for all base quality scores, when some are missing" value="-1" help="-DBQ,--defaultBaseQualities &amp;lt;defaultBaseQualities&amp;gt;"/>
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jjohnson
parents:
diff changeset
390 <param name="validation_strictness" type="select" label="How strict should we be with validation" help="-S,--validation_strictness &amp;lt;validation_strictness&amp;gt;">
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jjohnson
parents:
diff changeset
391 <option value="STRICT" selected="True">STRICT</option>
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jjohnson
parents:
diff changeset
392 <option value="LENIENT">LENIENT</option>
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jjohnson
parents:
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393 <option value="SILENT">SILENT</option>
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jjohnson
parents:
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394 <!-- <option value="DEFAULT_STRINGENCY">DEFAULT_STRINGENCY</option> listed in docs, but not valid value...-->
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jjohnson
parents:
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395 </param>
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jjohnson
parents:
diff changeset
396 <param name="interval_merging" type="select" label="Interval merging rule" help="-im,--interval_merging &amp;lt;interval_merging&amp;gt;">
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jjohnson
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397 <option value="ALL" selected="True">ALL</option>
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jjohnson
parents:
diff changeset
398 <option value="OVERLAPPING_ONLY">OVERLAPPING_ONLY</option>
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jjohnson
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399 </param>
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jjohnson
parents:
diff changeset
400
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jjohnson
parents:
diff changeset
401 <repeat name="read_group_black_list_repeat" title="Read group black list" help="-rgbl,--read_group_black_list &amp;lt;read_group_black_list&amp;gt;">
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jjohnson
parents:
diff changeset
402 <conditional name="read_group_black_list_type">
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jjohnson
parents:
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403 <param name="read_group_black_list_type_selector" type="select" label="Type of reads read group black list">
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jjohnson
parents:
diff changeset
404 <option value="file" selected="True">Filters in file</option>
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jjohnson
parents:
diff changeset
405 <option value="text">Specify filters as a string</option>
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jjohnson
parents:
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406 </param>
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jjohnson
parents:
diff changeset
407 <when value="file">
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jjohnson
parents:
diff changeset
408 <param name="read_group_black_list" type="data" format="txt" label="Read group black list file" />
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jjohnson
parents:
diff changeset
409 </when>
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jjohnson
parents:
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410 <when value="text">
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jjohnson
parents:
diff changeset
411 <param name="read_group_black_list" type="text" value="tag:string" label="Read group black list tag:string" />
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jjohnson
parents:
diff changeset
412 </when>
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jjohnson
parents:
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413 </conditional>
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jjohnson
parents:
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414 </repeat>
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jjohnson
parents:
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415
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jjohnson
parents:
diff changeset
416 <param name="disable_experimental_low_memory_sharding" type="boolean" truevalue="--disable_experimental_low_memory_sharding" falsevalue="" label="Disable experimental low-memory sharding functionality." checked="False" help="--disable_experimental_low_memory_sharding"/>
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jjohnson
parents:
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417 <param name="non_deterministic_random_seed" type="boolean" truevalue="--nonDeterministicRandomSeed" falsevalue="" label="Makes the GATK behave non deterministically, that is, the random numbers generated will be different in every run" checked="False" help="-ndrs,--nonDeterministicRandomSeed"/>
18
7533db8dfb5b Update tool_dependencies to GATK v 2.3
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
418 <param name="fix_misencoded_quality_scores" type="boolean" truevalue="--fix_misencoded_quality_scores" falsevalue="" label="Fix mis-encoded base quality scores. Q0 == ASCII 33 according to the SAM specification, whereas Illumina encoding starts at Q64. The idea here is simple: we just iterate over all reads and subtract 31 from every quality score." checked="False" help="-fixMisencodedQuals / --fix_misencoded_quality_scores"/>
0
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jjohnson
parents:
diff changeset
419
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jjohnson
parents:
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420 </when>
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jjohnson
parents:
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421 </conditional>
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jjohnson
parents:
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422
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jjohnson
parents:
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423
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jjohnson
parents:
diff changeset
424 <conditional name="analysis_param_type">
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jjohnson
parents:
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425 <param name="analysis_param_type_selector" type="select" label="Basic or Advanced Analysis options">
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jjohnson
parents:
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426 <option value="basic" selected="True">Basic</option>
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jjohnson
parents:
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427 <option value="advanced">Advanced</option>
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jjohnson
parents:
diff changeset
428 </param>
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jjohnson
parents:
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429 <when value="basic">
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jjohnson
parents:
diff changeset
430 <!-- Do nothing here -->
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jjohnson
parents:
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431 </when>
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jjohnson
parents:
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432 <when value="advanced">
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jjohnson
parents:
diff changeset
433 <repeat name="stratifications" title="Stratification">
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jjohnson
parents:
diff changeset
434 <param name="select_exps" value="" type="text" label="Stratification Expression" help="-select,--select_exps &amp;lt;select_exps&amp;gt;">
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jjohnson
parents:
diff changeset
435 <sanitizer>
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jjohnson
parents:
diff changeset
436 <valid initial="string.printable">
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jjohnson
parents:
diff changeset
437 <remove value="&apos;"/>
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jjohnson
parents:
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438 </valid>
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jjohnson
parents:
diff changeset
439 <mapping initial="none"/>
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jjohnson
parents:
diff changeset
440 </sanitizer>
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jjohnson
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441 </param>
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jjohnson
parents:
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442 <param name="select_name" value="" type="text" label="Name" help="-selectName,--select_names &amp;lt;select_names&amp;gt;"/>
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jjohnson
parents:
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443 </repeat>
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jjohnson
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444
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jjohnson
parents:
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445 <repeat name="samples" title="Sample" help="-sn,--sample &amp;lt;sample&amp;gt;">
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jjohnson
parents:
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446 <param name="sample" value="" type="text" label="Derive eval and comp contexts using only these sample genotypes, when genotypes are available in the original context"/>
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jjohnson
parents:
diff changeset
447 </repeat>
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jjohnson
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448
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jjohnson
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449 <param name="stratification_modules" type="select" multiple="True" display="checkboxes" label="Stratification modules to apply to the eval track(s)" help="-ST,--stratificationModule &amp;lt;stratificationModule&amp;gt;" >
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jjohnson
parents:
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450 <!-- do these need individual options also? gatk wiki has little info -->
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jjohnson
parents:
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451 <option value="AlleleFrequency" />
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jjohnson
parents:
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452 <option value="AlleleCount" />
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jjohnson
parents:
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453 <option value="CompRod" />
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jjohnson
parents:
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454 <option value="Contig" />
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jjohnson
parents:
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455 <option value="CpG" />
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jjohnson
parents:
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456 <option value="Degeneracy" />
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jjohnson
parents:
diff changeset
457 <option value="EvalRod" />
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jjohnson
parents:
diff changeset
458 <option value="Filter" />
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jjohnson
parents:
diff changeset
459 <option value="FunctionalClass" />
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jjohnson
parents:
diff changeset
460 <option value="JexlExpression" />
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jjohnson
parents:
diff changeset
461 <option value="Sample" />
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jjohnson
parents:
diff changeset
462 <option value="IntervalStratification" />
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jjohnson
parents:
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463 </param>
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jjohnson
parents:
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464 <param name="do_not_use_all_standard_stratifications" checked="false" type="boolean" truevalue="--doNotUseAllStandardStratifications" falsevalue="" label="Do not use the standard stratification modules by default" help="-noST,--doNotUseAllStandardStratifications" />
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jjohnson
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465
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jjohnson
parents:
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466 <repeat name="only_variants_of_type" title="only Variants Of Type" help="--onlyVariantsOfType">
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jjohnson
parents:
diff changeset
467 <param name="variant_type" type="text" value="" label="only variants of these types will be considered during the evaluation"/>
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jjohnson
parents:
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468 </repeat>
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jjohnson
parents:
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469
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jjohnson
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470 <param name="eval_modules" type="select" multiple="True" display="checkboxes" label="Eval modules to apply to the eval track(s)" help="-EV,--evalModule &amp;lt;evalModule&amp;gt;" >
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jjohnson
parents:
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471 <!-- do these need individual options also? gatk wiki has little info -->
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jjohnson
parents:
diff changeset
472 <option value="ACTransitionTable" />
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jjohnson
parents:
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473 <option value="AlleleFrequencyComparison" />
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jjohnson
parents:
diff changeset
474 <option value="AminoAcidTransition" />
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jjohnson
parents:
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475 <option value="CompOverlap" />
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jjohnson
parents:
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476 <option value="CountVariants" />
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jjohnson
parents:
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477 <option value="GenotypeConcordance" />
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jjohnson
parents:
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478 <option value="GenotypePhasingEvaluator" />
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jjohnson
parents:
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479 <option value="IndelMetricsByAC" />
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jjohnson
parents:
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480 <option value="IndelStatistics" />
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jjohnson
parents:
diff changeset
481 <option value="MendelianViolationEvaluator" />
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jjohnson
parents:
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482 <option value="PrintMissingComp" />
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jjohnson
parents:
diff changeset
483 <option value="PrivatePermutations" />
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jjohnson
parents:
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484 <option value="SimpleMetricsByAC" />
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jjohnson
parents:
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485 <option value="ThetaVariantEvaluator" />
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jjohnson
parents:
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486 <option value="TiTvVariantEvaluator" />
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jjohnson
parents:
diff changeset
487 <option value="VariantQualityScore" />
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jjohnson
parents:
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488 </param>
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jjohnson
parents:
diff changeset
489 <param name="do_not_use_all_standard_modules" checked="false" type="boolean" truevalue="--doNotUseAllStandardModules" falsevalue="" label="Do not use the standard eval modules by default" help="-noEV,--doNotUseAllStandardModules" />
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jjohnson
parents:
diff changeset
490
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jjohnson
parents:
diff changeset
491 <param name="num_samples" type="integer" label="Number of samples (used if no samples are available in the VCF file" value="0" help="-ns,--numSamples &amp;lt;numSamples&amp;gt;"/>
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jjohnson
parents:
diff changeset
492 <param name="min_phase_quality" type="float" label="Minimum phasing quality " value="10.0" help="-mpq,--minPhaseQuality &amp;lt;minPhaseQuality&amp;gt;"/>
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jjohnson
parents:
diff changeset
493 <param name="family" type="text" value="" label="If provided, genotypes in will be examined for mendelian violations: this argument is a string formatted as dad+mom=child where these parameters determine which sample names are examined" help="--family_structure"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
494 <param name="mendelian_violation_qual_threshold" type="integer" label="Minimum genotype QUAL score for each trio member required to accept a site as a violation" value="50" help="-mvq,--mendelianViolationQualThreshold &amp;lt;mendelianViolationQualThreshold&amp;gt;"/>
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jjohnson
parents:
diff changeset
495 <param name="ancestral_alignments" type="data" format="fasta" optional="True" label="Fasta file with ancestral alleles" help="-aa,--ancestralAlignments &amp;lt;ancestralAlignments&amp;gt;" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
496 <param name="known_cnvs" type="data" format="bed,gatk_interval,picard_interval_list" optional="True" label="File containing tribble-readable features describing a known list of copy number variants" help="-knownCNVs,--knownCNVs &amp;lt;knownCNVs&amp;gt;" />
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jjohnson
parents:
diff changeset
497 <param name="strat_intervals" type="data" format="bed,gatk_interval,picard_interval_list" optional="True" label="File containing tribble-readable features for the IntervalStratificiation" help="-stratIntervals,--stratIntervals &amp;lt;stratIntervals&amp;gt;" />
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jjohnson
parents:
diff changeset
498
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jjohnson
parents:
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499 </when>
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jjohnson
parents:
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500 </conditional>
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jjohnson
parents:
diff changeset
501
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jjohnson
parents:
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502
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jjohnson
parents:
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503 </inputs>
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jjohnson
parents:
diff changeset
504 <outputs>
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jjohnson
parents:
diff changeset
505 <data format="gatk_report" name="output_report" label="${tool.name} on ${on_string} (report)" />
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jjohnson
parents:
diff changeset
506 <data format="txt" name="output_log" label="${tool.name} on ${on_string} (log)" />
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jjohnson
parents:
diff changeset
507 </outputs>
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jjohnson
parents:
diff changeset
508 <tests>
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jjohnson
parents:
diff changeset
509 <test>
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jjohnson
parents:
diff changeset
510 <param name="reference_source_selector" value="history" />
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jjohnson
parents:
diff changeset
511 <param name="ref_file" value="phiX.fasta" ftype="fasta" />
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jjohnson
parents:
diff changeset
512 <param name="input_variant" value="gatk/gatk_variant_annotator/gatk_variant_annotator_out_1.vcf" ftype="vcf" />
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jjohnson
parents:
diff changeset
513 <param name="dbsnp_rod_bind_type_selector" value="set_dbsnp" />
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jjohnson
parents:
diff changeset
514 <param name="dbsnp_input_rod" value="gatk/fake_phiX_variant_locations.vcf" ftype="vcf" />
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jjohnson
parents:
diff changeset
515 <param name="dbsnp_known_names" value="True"/>
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jjohnson
parents:
diff changeset
516 <param name="comp_rod_bind" value="0" />
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jjohnson
parents:
diff changeset
517 <param name="gatk_param_type_selector" value="basic" />
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jjohnson
parents:
diff changeset
518 <param name="analysis_param_type_selector" value="basic" />
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jjohnson
parents:
diff changeset
519 <output name="output_report" file="gatk/gatk_variant_eval/gatk_variant_eval_out_1.gatk_report" />
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jjohnson
parents:
diff changeset
520 <output name="output_log" file="gatk/gatk_variant_eval/gatk_variant_eval_out_1.log.contains" compare="contains" />
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jjohnson
parents:
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521 </test>
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jjohnson
parents:
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522 </tests>
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jjohnson
parents:
diff changeset
523 <help>
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jjohnson
parents:
diff changeset
524 **What it does**
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jjohnson
parents:
diff changeset
525
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jjohnson
parents:
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526 General-purpose tool for variant evaluation (% in dbSNP, genotype concordance, Ti/Tv ratios, and a lot more)
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jjohnson
parents:
diff changeset
527
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jjohnson
parents:
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528 For more information on using the VariantEval module, see this `tool specific page &lt;http://www.broadinstitute.org/gatk/gatkdocs/org_broadinstitute_sting_gatk_walkers_varianteval_VariantEval.html&gt;`_.
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jjohnson
parents:
diff changeset
529
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jjohnson
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530 To learn about best practices for variant detection using GATK, see this `overview &lt;http://www.broadinstitute.org/gatk/guide/topic?name=best-practices&gt;`_.
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531
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532 If you encounter errors, please view the `GATK FAQ &lt;http://www.broadinstitute.org/gatk/guide/topic?name=faqs&gt;`_.
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533
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534 ------
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535
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536 **Inputs**
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537
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538 GenomeAnalysisTK: VariantEval accepts variant files as input.
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539
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540
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541 **Outputs**
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542
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543 The output is a table of variant evaluation.
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544
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545
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546 Go `here &lt;http://www.broadinstitute.org/gatk/guide/topic?name=intro&gt;`_ for details on GATK file formats.
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547
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548 -------
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549
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550 **Settings**::
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551
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552 out An output file presented to the walker. Will overwrite contents if file exists.
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553 list List the available eval modules and exit
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554 select_exps One or more stratifications to use when evaluating the data
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555 select_names Names to use for the list of stratifications (must be a 1-to-1 mapping)
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556 sample Derive eval and comp contexts using only these sample genotypes, when genotypes are available in the original context
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557 known_names Name of ROD bindings containing variant sites that should be treated as known when splitting eval rods into known and novel subsets
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558 stratificationModule One or more specific stratification modules to apply to the eval track(s) (in addition to the standard stratifications, unless -noS is specified)
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559 doNotUseAllStandardStratifications Do not use the standard stratification modules by default (instead, only those that are specified with the -S option)
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560 onlyVariantsOfType If provided, only variants of these types will be considered during the evaluation, in
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561 evalModule One or more specific eval modules to apply to the eval track(s) (in addition to the standard modules, unless -noE is specified)
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562 doNotUseAllStandardModules Do not use the standard modules by default (instead, only those that are specified with the -E option)
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563 numSamples Number of samples (used if no samples are available in the VCF file
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564 minPhaseQuality Minimum phasing quality
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565 family_structure If provided, genotypes in will be examined for mendelian violations: this argument is a string formatted as dad+mom=child where these parameters determine which sample names are examined
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566 mendelianViolationQualThreshold Minimum genotype QUAL score for each trio member required to accept a site as a violation
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567 ancestralAlignments Fasta file with ancestral alleles
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568
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569 ------
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570
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571 **Citation**
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572
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573 For the underlying tool, please cite `DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011 May;43(5):491-8. &lt;http://www.ncbi.nlm.nih.gov/pubmed/21478889&gt;`_
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574
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575 Please also site `McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA (2010). The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20:1297-303. Epub 2010 Jul 19. &lt;http://www.ncbi.nlm.nih.gov/pubmed/20644199&gt;`_
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576
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577 If you use this tool in Galaxy, please cite `Blankenberg D, Von Kuster G, Coraor N, Ananda G, Lazarus R, Mangan M, Nekrutenko A, Taylor J. Galaxy: a web-based genome analysis tool for experimentalists. Curr Protoc Mol Biol. 2010 Jan;Chapter 19:Unit 19.10.1-21. &lt;http://www.ncbi.nlm.nih.gov/pubmed/20069535&gt;`_
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578
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579 </help>
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580 </tool>