annotate variant_recalibrator.xml @ 35:a29c7d7d962d draft

Fix default read filter screening
author Jim Johnson <jj@umn.edu>
date Fri, 01 Mar 2013 07:52:02 -0600
parents b99c25b0ad4d
children 14d47237bb0a
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b99c25b0ad4d Update tool version to 0.0.7
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1 <tool id="gatk2_variant_recalibrator" name="Variant Recalibrator" 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 --max_jvm_heap_fraction "1"
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8 --stdout "${output_log}"
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9 #for $var_count, $variant in enumerate( $reference_source.variants ):
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10 -d "--input:input_${var_count},%(file_type)s" "${variant.input_variants}" "${variant.input_variants.ext}" "input_variants_${var_count}"
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11 #end for
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12 -p 'java
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13 -jar "\$GATK2_PATH/GenomeAnalysisTK.jar"
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14 -T "VariantRecalibrator"
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15 \$GATK2_SITE_OPTIONS
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16 \$GATK2_NUM_THREADS
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17 ##--num_threads 4 ##hard coded, for now
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18 ##-et "NO_ET" -K "\$GATK2_BASE/gatk2_key_file"##ET no phone home
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19 ##-log "${output_log}" ##don't use this to log to file, instead directly capture stdout
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20 #if $reference_source.reference_source_selector != "history":
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21 -R "${reference_source.ref_file.fields.path}"
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22 #end if
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23 --recal_file "${output_recal}"
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24 --tranches_file "${output_tranches}"
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25 --rscript_file "${output_rscript}"
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26 '
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27
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28 #set $rod_binding_names = dict()
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29 #for $rod_binding in $rod_bind:
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30 #if str( $rod_binding.rod_bind_type.rod_bind_type_selector ) == 'custom':
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31 #set $rod_bind_name = $rod_binding.rod_bind_type.custom_rod_name
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32 #elif str( $rod_binding.rod_bind_type.rod_bind_type_selector ) == 'comp':
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33 #set $rod_bind_name = "comp" + $rod_binding.rod_bind_type.custom_rod_name
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34 #else
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35 #set $rod_bind_name = $rod_binding.rod_bind_type.rod_bind_type_selector
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36 #end if
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37 #set $rod_binding_names[$rod_bind_name] = $rod_binding_names.get( $rod_bind_name, -1 ) + 1
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38 #if $rod_binding.rod_bind_type.rod_training_type.rod_training_type_selector == "not_training_truth_known":
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39 -d "--resource:${rod_bind_name},%(file_type)s" "${rod_binding.rod_bind_type.input_rod}" "${rod_binding.rod_bind_type.input_rod.ext}" "input_${rod_bind_name}_${rod_binding_names[$rod_bind_name]}"
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40 #else:
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41 -d "--resource:${rod_bind_name},%(file_type)s,known=${rod_binding.rod_bind_type.rod_training_type.known},training=${rod_binding.rod_bind_type.rod_training_type.training},truth=${rod_binding.rod_bind_type.rod_training_type.truth},bad=${rod_binding.rod_bind_type.rod_training_type.bad},prior=${rod_binding.rod_bind_type.rod_training_type.prior}" "${rod_binding.rod_bind_type.input_rod}" "${rod_binding.rod_bind_type.input_rod.ext}" "input_${rod_bind_name}_${rod_binding_names[$rod_bind_name]}"
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42 #end if
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43 #end for
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44
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45 ##start standard gatk options
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46 #if $gatk_param_type.gatk_param_type_selector == "advanced":
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47 #for $pedigree in $gatk_param_type.pedigree:
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48 -p '--pedigree "${pedigree.pedigree_file}"'
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49 #end for
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50 #for $pedigree_string in $gatk_param_type.pedigree_string_repeat:
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51 -p '--pedigreeString "${pedigree_string.pedigree_string}"'
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52 #end for
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53 -p '--pedigreeValidationType "${gatk_param_type.pedigree_validation_type}"'
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54 #set default_read_filters = ['DuplicateRead','FailsVendorQualityCheck','NotPrimaryAlignment','MalformedRead','UnmappedRead']
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55 #for $read_filter in $gatk_param_type.read_filter:
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a5c55503d196 variant_recalibrator Omit --read_filter for MalformedReadFilter since it included by default, allows --filter_mismatching_base_and_quals to be set
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56 -p '
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57 #if $read_filter.read_filter_type.read_filter_type_selector not in $default_read_filters:
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58 --read_filter "${read_filter.read_filter_type.read_filter_type_selector}"
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59 #end_if
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60 #for $name, $param in $read_filter.read_filter_type.iteritems():
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61 #if $name not in [ "__current_case__", "read_filter_type_selector" ]:
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62 #if hasattr( $param.input, 'truevalue' ):
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63 ${param}
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64 #else:
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65 --${name} "${param}"
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66 #end if
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67 #end if
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68 #end for
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69 '
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70 #end for
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71 #for $interval_count, $input_intervals in enumerate( $gatk_param_type.input_interval_repeat ):
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72 -d "--intervals" "${input_intervals.input_intervals}" "${input_intervals.input_intervals.ext}" "input_intervals_${interval_count}"
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73 #end for
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74
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75 #for $interval_count, $input_intervals in enumerate( $gatk_param_type.input_exclude_interval_repeat ):
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76 -d "--excludeIntervals" "${input_intervals.input_exclude_intervals}" "${input_intervals.input_exclude_intervals.ext}" "input_exlude_intervals_${interval_count}"
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77 #end for
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78
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79 -p '--interval_set_rule "${gatk_param_type.interval_set_rule}"'
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80
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81 -p '--downsampling_type "${gatk_param_type.downsampling_type.downsampling_type_selector}"'
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82 #if str( $gatk_param_type.downsampling_type.downsampling_type_selector ) != "NONE":
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83 -p '--${gatk_param_type.downsampling_type.downsample_to_type.downsample_to_type_selector} "${gatk_param_type.downsampling_type.downsample_to_type.downsample_to_value}"'
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84 #end if
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85 -p '
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86 --baq "${gatk_param_type.baq}"
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87 --baqGapOpenPenalty "${gatk_param_type.baq_gap_open_penalty}"
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88 ${gatk_param_type.use_original_qualities}
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89 --defaultBaseQualities "${gatk_param_type.default_base_qualities}"
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90 --validation_strictness "${gatk_param_type.validation_strictness}"
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91 --interval_merging "${gatk_param_type.interval_merging}"
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92 ${gatk_param_type.disable_experimental_low_memory_sharding}
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93 ${gatk_param_type.fix_misencoded_quality_scores}
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94 ${gatk_param_type.non_deterministic_random_seed}
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95 '
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96 #for $rg_black_list_count, $rg_black_list in enumerate( $gatk_param_type.read_group_black_list_repeat ):
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97 #if $rg_black_list.read_group_black_list_type.read_group_black_list_type_selector == "file":
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98 -d "--read_group_black_list" "${rg_black_list.read_group_black_list_type.read_group_black_list}" "txt" "input_read_group_black_list_${rg_black_list_count}"
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99 #else
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100 -p '--read_group_black_list "${rg_black_list.read_group_black_list_type.read_group_black_list}"'
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101 #end if
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102 #end for
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103 #end if
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104
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105 #if str( $reference_source.reference_source_selector ) == "history":
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106 -d "-R" "${reference_source.ref_file}" "${reference_source.ref_file.ext}" "gatk_input"
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107 #end if
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108 ##end standard gatk options
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109
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110 ##start analysis specific options
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111 -p '
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112 #if str( $annotations ) != "None":
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113 #for $annotation in str( $annotations.fields.gatk_value ).split( ',' ):
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114 --use_annotation "${annotation}"
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115 #end for
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116 #end if
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117 #for $additional_annotation in $additional_annotations:
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118 --use_annotation "${additional_annotation.additional_annotation_name}"
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119 #end for
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120 --mode "${mode}"
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121 '
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122
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123 #if $analysis_param_type.analysis_param_type_selector == "advanced":
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124 -p '
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125 --maxGaussians "${analysis_param_type.max_gaussians}"
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126 --maxIterations "${analysis_param_type.max_iterations}"
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127 --numKMeans "${analysis_param_type.num_k_means}"
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128 --stdThreshold "${analysis_param_type.std_threshold}"
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129 --qualThreshold "${analysis_param_type.qual_threshold}"
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130 --shrinkage "${analysis_param_type.shrinkage}"
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131 --dirichlet "${analysis_param_type.dirichlet}"
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132 --priorCounts "${analysis_param_type.prior_counts}"
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133 #if str( $analysis_param_type.bad_variant_selector.bad_variant_selector_type ) == 'percent':
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134 --percentBadVariants "${analysis_param_type.bad_variant_selector.percent_bad_variants}"
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135 #else:
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136 --minNumBadVariants "${analysis_param_type.bad_variant_selector.min_num_bad_variants}"
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137 #end if
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138 --target_titv "${analysis_param_type.target_titv}"
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139 #for $tranche in [ $tranche.strip() for $tranche in str( $analysis_param_type.ts_tranche ).split( ',' ) if $tranche.strip() ]
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140 --TStranche "${tranche}"
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141 #end for
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142 #for $ignore_filter in $analysis_param_type.ignore_filters:
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143 #set $ignore_filter_name = str( $ignore_filter.ignore_filter_type.ignore_filter_type_selector )
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144 #if $ignore_filter_name == "custom":
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145 #set $ignore_filter_name = str( $ignore_filter.ignore_filter_type.filter_name )
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146 #end if
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147 --ignore_filter "${ignore_filter_name}"
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148 #end for
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149 --ts_filter_level "${analysis_param_type.ts_filter_level}"
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150 '
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151 #end if
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152
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153
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154 &amp;&amp;
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155 mv "${output_rscript}.pdf" "${output_tranches_pdf}"
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156
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157 </command>
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158 <inputs>
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159 <conditional name="reference_source">
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160 <param name="reference_source_selector" type="select" label="Choose the source for the reference list">
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161 <option value="cached">Locally cached</option>
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162 <option value="history">History</option>
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163 </param>
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164 <when value="cached">
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165 <repeat name="variants" title="Variant" min="1" help="-input,--input &amp;lt;input&amp;gt;">
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166 <param name="input_variants" type="data" format="vcf" label="Variant file to recalibrate" />
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167 </repeat>
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168 <param name="ref_file" type="select" label="Using reference genome" help="-R,--reference_sequence &amp;lt;reference_sequence&amp;gt;">
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169 <options from_data_table="gatk_picard_indexes">
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170 <!-- <filter type="data_meta" key="dbkey" ref="variants[0].input_variants" column="dbkey"/> -->
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171 </options>
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jjohnson
parents:
diff changeset
172 <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
173 </param>
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jjohnson
parents:
diff changeset
174 </when>
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jjohnson
parents:
diff changeset
175 <when value="history"> <!-- FIX ME!!!! -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
176 <repeat name="variants" title="Variant" min="1" help="-input,--input &amp;lt;input&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
177 <param name="input_variants" type="data" format="vcf" label="Variant file to recalibrate" />
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jjohnson
parents:
diff changeset
178 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
179 <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
180 </when>
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jjohnson
parents:
diff changeset
181 </conditional>
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jjohnson
parents:
diff changeset
182
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
183 <repeat name="rod_bind" title="Binding for reference-ordered data" help="-resource,--resource &amp;lt;resource&amp;gt;">
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jjohnson
parents:
diff changeset
184 <conditional name="rod_bind_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
185 <param name="rod_bind_type_selector" type="select" label="Binding Type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
186 <option value="dbsnp" selected="True">dbSNP</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
187 <option value="variant">Variants</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
188 <option value="snps">SNPs</option>
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jjohnson
parents:
diff changeset
189 <option value="indels">INDELs</option>
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jjohnson
parents:
diff changeset
190 <option value="hapmap">HapMap</option>
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jjohnson
parents:
diff changeset
191 <option value="omni">OMNI</option>
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jjohnson
parents:
diff changeset
192 <option value="mask">Mask</option>
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jjohnson
parents:
diff changeset
193 <option value="custom">Custom</option>
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jjohnson
parents:
diff changeset
194 <option value="comp">Comp</option>
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jjohnson
parents:
diff changeset
195 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
196 <when value="variant">
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jjohnson
parents:
diff changeset
197 <param name="input_rod" type="data" format="vcf" label="Variant ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
198 <conditional name="rod_training_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
199 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
200 <option value="is_training_truth_known">Set training/truth/known sites</option>
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jjohnson
parents:
diff changeset
201 <option value="not_training_truth_known" selected="True">Don't Set options</option>
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jjohnson
parents:
diff changeset
202 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
203 <when value="not_training_truth_known">
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jjohnson
parents:
diff changeset
204 <!-- do nothing here -->
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jjohnson
parents:
diff changeset
205 </when>
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jjohnson
parents:
diff changeset
206 <when value="is_training_truth_known">
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jjohnson
parents:
diff changeset
207 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
208 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
209 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
210 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
211 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
212 </when>
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jjohnson
parents:
diff changeset
213 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
214 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
215 <when value="comp">
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jjohnson
parents:
diff changeset
216 <param name="input_rod" type="data" format="vcf" label="ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
217 <param name="custom_rod_name" type="text" value="Unnamed" label="ROD Name"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
218 <conditional name="rod_training_type">
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jjohnson
parents:
diff changeset
219 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
220 <option value="is_training_truth_known">Set training/truth/known sites</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
221 <option value="not_training_truth_known" selected="True">Don't Set options</option>
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jjohnson
parents:
diff changeset
222 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
223 <when value="not_training_truth_known">
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jjohnson
parents:
diff changeset
224 <!-- do nothing here -->
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jjohnson
parents:
diff changeset
225 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
226 <when value="is_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
227 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
228 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
229 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
230 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
231 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
232 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
233 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
234 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
235 <when value="mask">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
236 <param name="input_rod" type="data" format="vcf" label="ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
237 <conditional name="rod_training_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
238 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
239 <option value="is_training_truth_known">Set training/truth/known sites</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
240 <option value="not_training_truth_known" selected="True">Don't Set options</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
241 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
242 <when value="not_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
243 <!-- do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
244 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
245 <when value="is_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
246 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
247 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
248 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
249 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
250 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
251 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
252 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
253 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
254 <when value="dbsnp">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
255 <param name="input_rod" type="data" format="vcf" label="ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
256 <conditional name="rod_training_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
257 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
258 <option value="is_training_truth_known">Set training/truth/known sites</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
259 <option value="not_training_truth_known" selected="True">Don't Set options</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
260 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
261 <when value="not_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
262 <!-- do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
263 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
264 <when value="is_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
265 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
266 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
267 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
268 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
269 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
270 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
271 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
272 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
273 <when value="snps">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
274 <param name="input_rod" type="data" format="vcf" label="ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
275 <conditional name="rod_training_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
276 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
277 <option value="is_training_truth_known">Set training/truth/known sites</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
278 <option value="not_training_truth_known" selected="True">Don't Set options</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
279 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
280 <when value="not_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
281 <!-- do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
282 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
283 <when value="is_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
284 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
285 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
286 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
287 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
288 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
289 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
290 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
291 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
292 <when value="hapmap">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
293 <param name="input_rod" type="data" format="vcf" label="ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
294 <conditional name="rod_training_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
295 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
296 <option value="is_training_truth_known">Set training/truth/known sites</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
297 <option value="not_training_truth_known" selected="True">Don't Set options</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
298 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
299 <when value="not_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
300 <!-- do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
301 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
302 <when value="is_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
303 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
304 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
305 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
306 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
307 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
308 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
309 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
310 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
311 <when value="omni">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
312 <param name="input_rod" type="data" format="vcf" label="ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
313 <conditional name="rod_training_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
314 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
315 <option value="is_training_truth_known">Set training/truth/known sites</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
316 <option value="not_training_truth_known" selected="True">Don't Set options</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
317 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
318 <when value="not_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
319 <!-- do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
320 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
321 <when value="is_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
322 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
323 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
324 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
325 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
326 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
327 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
328 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
329 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
330 <when value="indels">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
331 <param name="input_rod" type="data" format="vcf" label="ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
332 <conditional name="rod_training_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
333 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
334 <option value="is_training_truth_known">Set training/truth/known sites</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
335 <option value="not_training_truth_known" selected="True">Don't Set options</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
336 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
337 <when value="not_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
338 <!-- do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
339 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
340 <when value="is_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
341 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
342 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
343 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
344 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
345 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
346 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
347 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
348 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
349 <when value="custom">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
350 <param name="custom_rod_name" type="text" value="Unknown" label="ROD Name"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
351 <param name="input_rod" type="data" format="vcf" label="ROD file" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
352 <conditional name="rod_training_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
353 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
354 <option value="is_training_truth_known">Set training/truth/known sites</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
355 <option value="not_training_truth_known" selected="True">Don't Set options</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
356 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
357 <when value="not_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
358 <!-- do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
359 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
360 <when value="is_training_truth_known">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
361 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
362 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
363 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
364 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
365 <param name="prior" type="float" label="prior probability of being true" value="12.0"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
366 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
367 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
368 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
369 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
370 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
371
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
372 <param name="annotations" type="select" multiple="True" display="checkboxes" label="annotations which should used for calculations" help="-an,--use_annotation &amp;lt;use_annotation&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
373 <!-- load the available annotations from an external configuration file, since additional ones can be added to local installs -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
374 <options from_data_table="gatk2_annotations">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
375 <filter type="multiple_splitter" column="tools_valid_for" separator=","/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
376 <filter type="static_value" value="VariantRecalibrator" column="tools_valid_for"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
377 </options>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
378 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
379
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
380 <repeat name="additional_annotations" title="Additional annotation" help="-an,--use_annotation &amp;lt;use_annotation&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
381 <param name="additional_annotation_name" type="text" value="" label="Annotation name" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
382 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
383
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
384 <param name="mode" type="select" label="Recalibration mode" help="-mode,--mode &amp;lt;mode&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
385 <option value="SNP" selected="True">SNP</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
386 <option value="INDEL">INDEL</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
387 <option value="BOTH">BOTH</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
388 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
389
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
390 <conditional name="gatk_param_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
391 <param name="gatk_param_type_selector" type="select" label="Basic or Advanced GATK options">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
392 <option value="basic" selected="True">Basic</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
393 <option value="advanced">Advanced</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
394 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
395 <when value="basic">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
396 <!-- Do nothing here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
397 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
398 <when value="advanced">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
399 <repeat name="pedigree" title="Pedigree file" help="-ped,--pedigree &amp;lt;pedigree&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
400 <param name="pedigree_file" type="data" format="txt" label="Pedigree files for samples"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
401 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
402 <repeat name="pedigree_string_repeat" title="Pedigree string" help="-pedString,--pedigreeString &amp;lt;pedigreeString&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
403 <param name="pedigree_string" type="text" value="" label="Pedigree string for samples"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
404 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
405 <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;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
406 <option value="STRICT" selected="True">STRICT</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
407 <option value="SILENT">SILENT</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
408 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
409 <repeat name="read_filter" title="Read Filter" help="-rf,--read_filter &amp;lt;read_filter&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
410 <conditional name="read_filter_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
411 <param name="read_filter_type_selector" type="select" label="Read Filter Type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
412 <option value="BadCigar">BadCigar</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
413 <option value="BadMate">BadMate</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
414 <option value="DuplicateRead">DuplicateRead</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
415 <option value="FailsVendorQualityCheck">FailsVendorQualityCheck</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
416 <option value="MalformedRead">MalformedRead</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
417 <option value="MappingQuality">MappingQuality</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
418 <option value="MappingQualityUnavailable">MappingQualityUnavailable</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
419 <option value="MappingQualityZero">MappingQualityZero</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
420 <option value="MateSameStrand">MateSameStrand</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
421 <option value="MaxInsertSize">MaxInsertSize</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
422 <option value="MaxReadLength" selected="True">MaxReadLength</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
423 <option value="MissingReadGroup">MissingReadGroup</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
424 <option value="NoOriginalQualityScores">NoOriginalQualityScores</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
425 <option value="NotPrimaryAlignment">NotPrimaryAlignment</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
426 <option value="Platform454">Platform454</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
427 <option value="Platform">Platform</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
428 <option value="PlatformUnit">PlatformUnit</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
429 <option value="ReadGroupBlackList">ReadGroupBlackList</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
430 <option value="ReadName">ReadName</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
431 <option value="ReadStrand">ReadStrand</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
432 <option value="ReassignMappingQuality">ReassignMappingQuality</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
433 <option value="Sample">Sample</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
434 <option value="SingleReadGroup">SingleReadGroup</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
435 <option value="UnmappedRead">UnmappedRead</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
436 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
437 <when value="BadCigar">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
438 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
439 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
440 <when value="BadMate">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
441 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
442 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
443 <when value="DuplicateRead">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
444 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
445 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
446 <when value="FailsVendorQualityCheck">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
447 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
448 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
449 <when value="MalformedRead">
35
a29c7d7d962d Fix default read filter screening
Jim Johnson <jj@umn.edu>
parents: 34
diff changeset
450 <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
451 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
452 <when value="MappingQuality">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
453 <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
454 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
455 <when value="MappingQualityUnavailable">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
456 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
457 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
458 <when value="MappingQualityZero">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
459 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
460 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
461 <when value="MateSameStrand">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
462 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
463 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
464 <when value="MaxInsertSize">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
465 <param name="maxInsertSize" type="integer" value="1000000" label="Discard reads with insert size greater than the specified value"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
466 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
467 <when value="MaxReadLength">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
468 <param name="maxReadLength" type="integer" value="76" label="Max Read Length"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
469 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
470 <when value="MissingReadGroup">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
471 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
472 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
473 <when value="NoOriginalQualityScores">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
474 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
475 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
476 <when value="NotPrimaryAlignment">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
477 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
478 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
479 <when value="Platform454">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
480 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
481 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
482 <when value="Platform">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
483 <param name="PLFilterName" type="text" value="" label="Discard reads with RG:PL attribute containing this string"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
484 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
485 <when value="PlatformUnit">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
486 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
487 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
488 <when value="ReadGroupBlackList">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
489 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
490 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
491 <when value="ReadName">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
492 <param name="readName" type="text" value="" label="Filter out all reads except those with this read name"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
493 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
494 <when value="ReadStrand">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
495 <param name="filterPositive" type="boolean" truevalue="--filterPositive" falsevalue="" label="Discard reads on the forward strand"/>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
496 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
497 <when value="ReassignMappingQuality">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
498 <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
499 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
500 <when value="Sample">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
501 <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
502 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
503 <when value="SingleReadGroup">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
504 <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
505 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
506 <when value="UnmappedRead">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
507 <!-- no extra options -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
508 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
509 </conditional>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
510 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
511 <repeat name="input_interval_repeat" title="Operate on Genomic intervals" help="-L,--intervals &amp;lt;intervals&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
512 <param name="input_intervals" type="data" format="bed,gatk_interval,picard_interval_list,vcf" label="Genomic intervals" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
513 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
514 <repeat name="input_exclude_interval_repeat" title="Exclude Genomic intervals" help="-XL,--excludeIntervals &amp;lt;excludeIntervals&amp;gt;">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
515 <param name="input_exclude_intervals" type="data" format="bed,gatk_interval,picard_interval_list,vcf" label="Genomic intervals" />
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
516 </repeat>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
517
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
518 <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
519 <option value="UNION" selected="True">UNION</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
520 <option value="INTERSECTION">INTERSECTION</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
521 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
522
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
523 <conditional name="downsampling_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
524 <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
525 <option value="NONE" selected="True">NONE</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
526 <option value="ALL_READS">ALL_READS</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
527 <option value="BY_SAMPLE">BY_SAMPLE</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
528 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
529 <when value="NONE">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
530 <!-- no more options here -->
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
531 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
532 <when value="ALL_READS">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
533 <conditional name="downsample_to_type">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
534 <param name="downsample_to_type_selector" type="select" label="Downsample method">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
535 <option value="downsample_to_fraction" selected="True">Downsample by Fraction</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
536 <option value="downsample_to_coverage">Downsample by Coverage</option>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
537 </param>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
538 <when value="downsample_to_fraction">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
539 <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
540 </when>
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
541 <when value="downsample_to_coverage">
74c05070a3f8 Uploaded
jjohnson
parents:
diff changeset
542 <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
543 </when>
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jjohnson
parents:
diff changeset
544 </conditional>
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jjohnson
parents:
diff changeset
545 </when>
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jjohnson
parents:
diff changeset
546 <when value="BY_SAMPLE">
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jjohnson
parents:
diff changeset
547 <conditional name="downsample_to_type">
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jjohnson
parents:
diff changeset
548 <param name="downsample_to_type_selector" type="select" label="Downsample method">
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jjohnson
parents:
diff changeset
549 <option value="downsample_to_fraction" selected="True">Downsample by Fraction</option>
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jjohnson
parents:
diff changeset
550 <option value="downsample_to_coverage">Downsample by Coverage</option>
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jjohnson
parents:
diff changeset
551 </param>
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jjohnson
parents:
diff changeset
552 <when value="downsample_to_fraction">
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jjohnson
parents:
diff changeset
553 <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
554 </when>
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jjohnson
parents:
diff changeset
555 <when value="downsample_to_coverage">
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jjohnson
parents:
diff changeset
556 <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
557 </when>
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jjohnson
parents:
diff changeset
558 </conditional>
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jjohnson
parents:
diff changeset
559 </when>
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jjohnson
parents:
diff changeset
560 </conditional>
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jjohnson
parents:
diff changeset
561 <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
562 <option value="OFF" selected="True">OFF</option>
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jjohnson
parents:
diff changeset
563 <option value="CALCULATE_AS_NECESSARY">CALCULATE_AS_NECESSARY</option>
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jjohnson
parents:
diff changeset
564 <option value="RECALCULATE">RECALCULATE</option>
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jjohnson
parents:
diff changeset
565 </param>
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jjohnson
parents:
diff changeset
566 <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:
diff changeset
567 <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
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diff changeset
568 <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
569 <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:
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570 <option value="STRICT" selected="True">STRICT</option>
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jjohnson
parents:
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571 <option value="LENIENT">LENIENT</option>
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jjohnson
parents:
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572 <option value="SILENT">SILENT</option>
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jjohnson
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573 <!-- <option value="DEFAULT_STRINGENCY">DEFAULT_STRINGENCY</option> listed in docs, but not valid value...-->
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jjohnson
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574 </param>
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jjohnson
parents:
diff changeset
575 <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
parents:
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576 <option value="ALL" selected="True">ALL</option>
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jjohnson
parents:
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577 <option value="OVERLAPPING_ONLY">OVERLAPPING_ONLY</option>
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jjohnson
parents:
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578 </param>
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jjohnson
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579
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jjohnson
parents:
diff changeset
580 <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
581 <conditional name="read_group_black_list_type">
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jjohnson
parents:
diff changeset
582 <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
583 <option value="file" selected="True">Filters in file</option>
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jjohnson
parents:
diff changeset
584 <option value="text">Specify filters as a string</option>
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jjohnson
parents:
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585 </param>
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jjohnson
parents:
diff changeset
586 <when value="file">
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jjohnson
parents:
diff changeset
587 <param name="read_group_black_list" type="data" format="txt" label="Read group black list file" />
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jjohnson
parents:
diff changeset
588 </when>
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jjohnson
parents:
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589 <when value="text">
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jjohnson
parents:
diff changeset
590 <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
591 </when>
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jjohnson
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592 </conditional>
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jjohnson
parents:
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593 </repeat>
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jjohnson
parents:
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594
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jjohnson
parents:
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595 <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:
diff changeset
596 <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
597 <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:
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598
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jjohnson
parents:
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599 </when>
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jjohnson
parents:
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600 </conditional>
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jjohnson
parents:
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601
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jjohnson
parents:
diff changeset
602 <conditional name="analysis_param_type">
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jjohnson
parents:
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603 <param name="analysis_param_type_selector" type="select" label="Basic or Advanced Analysis options">
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jjohnson
parents:
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604 <option value="basic" selected="True">Basic</option>
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jjohnson
parents:
diff changeset
605 <option value="advanced">Advanced</option>
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jjohnson
parents:
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606 </param>
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jjohnson
parents:
diff changeset
607 <when value="basic">
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jjohnson
parents:
diff changeset
608 <!-- Do nothing here -->
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jjohnson
parents:
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609 </when>
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jjohnson
parents:
diff changeset
610 <when value="advanced">
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jjohnson
parents:
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611 <param name="max_gaussians" type="integer" label="maximum number of Gaussians to try during variational Bayes Algorithm" value="10" help="-mG,--maxGaussians &amp;lt;maxGaussians&amp;gt;"/>
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jjohnson
parents:
diff changeset
612 <param name="max_iterations" type="integer" label="maximum number of maximum number of VBEM iterations to be performed in variational Bayes Algorithm" value="100" help="-mI,--maxIterations &amp;lt;maxIterations&amp;gt;"/>
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jjohnson
parents:
diff changeset
613 <param name="num_k_means" type="integer" label="number of k-means iterations to perform in order to initialize the means of the Gaussians in the Gaussian mixture model" value="30" help="-nKM,--numKMeans &amp;lt;numKMeans&amp;gt;"/>
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jjohnson
parents:
diff changeset
614 <param name="std_threshold" type="float" label="If a variant has annotations more than -std standard deviations away from mean then don't use it for building the Gaussian mixture model." value="8.0" help="-std,--stdThreshold &amp;lt;stdThreshold&amp;gt;"/>
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jjohnson
parents:
diff changeset
615 <param name="qual_threshold" type="float" label="If a known variant has raw QUAL value less than -qual then don't use it for building the Gaussian mixture model." value="80.0" help="-qual,--qualThreshold &amp;lt;qualThreshold&amp;gt;"/>
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jjohnson
parents:
diff changeset
616 <param name="shrinkage" type="float" label="shrinkage parameter in variational Bayes algorithm" value="1.0" help="-shrinkage,--shrinkage &amp;lt;shrinkage&amp;gt;"/>
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jjohnson
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diff changeset
617 <param name="dirichlet" type="float" label="dirichlet parameter in variational Bayes algorithm" value="0.001" help="-dirichlet,--dirichlet &amp;lt;dirichlet&amp;gt;"/>
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jjohnson
parents:
diff changeset
618 <param name="prior_counts" type="float" label="number of prior counts to use in variational Bayes algorithm" value="20.0" help="-priorCounts,--priorCounts &amp;lt;priorCounts&amp;gt;"/>
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jjohnson
parents:
diff changeset
619 <conditional name="bad_variant_selector">
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jjohnson
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620 <param name="bad_variant_selector_type" type="select" label="How to specify bad variants">
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jjohnson
parents:
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621 <option value="percent" selected="True">Percent</option>
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jjohnson
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622 <option value="min_num">Number</option>
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jjohnson
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623 </param>
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jjohnson
parents:
diff changeset
624 <when value="percent">
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jjohnson
parents:
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625 <param name="percent_bad_variants" type="float" label="percentage of the worst scoring variants to use when building the Gaussian mixture model of bad variants. 0.07 means bottom 7 percent." value="0.03" help="-percentBad,--percentBadVariants &amp;lt;percentBadVariants&amp;gt;"/>
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jjohnson
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626 </when>
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jjohnson
parents:
diff changeset
627 <when value="min_num">
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jjohnson
parents:
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628 <param name="min_num_bad_variants" type="integer" label="minimum amount of worst scoring variants to use when building the Gaussian mixture model of bad variants. Will override -percentBad arugment if necessary" value="2000" help="-minNumBad,--minNumBadVariants &amp;lt;minNumBadVariants&amp;gt;"/>
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jjohnson
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629 </when>
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jjohnson
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630 </conditional>
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jjohnson
parents:
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631 <param name="target_titv" type="float" label="expected novel Ti/Tv ratio to use when calculating FDR tranches and for display on optimization curve output figures. (approx 2.15 for whole genome experiments). ONLY USED FOR PLOTTING PURPOSES!" value="2.15" help="-titv,--target_titv &amp;lt;target_titv&amp;gt;"/>
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jjohnson
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632 <param name="ts_tranche" type="text" label="levels of novel false discovery rate (FDR, implied by ti/tv) at which to slice the data. (in percent, that is 1.0 for 1 percent)" value="100.0, 99.9, 99.0, 90.0" help="-tranche,--TStranche &amp;lt;TStranche&amp;gt;"/>
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jjohnson
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633 <repeat name="ignore_filters" title="Ignore Filter" help="-ignoreFilter,--ignore_filter &amp;lt;ignore_filter&amp;gt;">
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jjohnson
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diff changeset
634 <conditional name="ignore_filter_type">
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jjohnson
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635 <param name="ignore_filter_type_selector" type="select" label="Filter Type">
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jjohnson
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636 <option value="HARD_TO_VALIDATE">HARD_TO_VALIDATE</option>
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jjohnson
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637 <option value="LowQual" >LowQual</option>
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jjohnson
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638 <option value="custom" selected="True">Other</option>
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jjohnson
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639 </param>
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jjohnson
parents:
diff changeset
640 <when value="custom">
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641 <param name="filter_name" type="text" value="" label="Filter name"/>
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jjohnson
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642 </when>
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jjohnson
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643 <when value="HARD_TO_VALIDATE" />
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jjohnson
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644 <when value="LowQual" />
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jjohnson
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645 </conditional>
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jjohnson
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646 </repeat>
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jjohnson
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647 <param name="ts_filter_level" type="float" label="truth sensitivity level at which to start filtering, used here to indicate filtered variants in plots" value="99.0" help="-ts_filter_level,--ts_filter_level &amp;lt;ts_filter_level&amp;gt;"/>
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jjohnson
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648 </when>
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649 </conditional>
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jjohnson
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650 </inputs>
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jjohnson
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651 <outputs>
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652 <data format="gatk_recal" name="output_recal" label="${tool.name} on ${on_string} (Recalibration File)" />
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jjohnson
parents:
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653 <data format="gatk_tranche" name="output_tranches" label="${tool.name} on ${on_string} (Tranches File)" />
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jjohnson
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654 <data format="txt" name="output_rscript" label="${tool.name} on ${on_string} (RScript File)" />
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jjohnson
parents:
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655 <data format="pdf" name="output_tranches_pdf" label="${tool.name} on ${on_string} (PDF File)" />
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jjohnson
parents:
diff changeset
656 <data format="txt" name="output_log" label="${tool.name} on ${on_string} (log)" />
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jjohnson
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657 </outputs>
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jjohnson
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658 <tests>
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jjohnson
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diff changeset
659 <!-- ADD TESTS -->
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jjohnson
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660 </tests>
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jjohnson
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661 <help>
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jjohnson
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662 **What it does**
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663
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664 Takes variant calls as .vcf files, learns a Gaussian mixture model over the variant annotations and evaluates the variant -- assigning an informative lod score
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jjohnson
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665
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jjohnson
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666 For more information on using the VariantRecalibrator module, see this `tool specific page &lt;http://www.broadinstitute.org/gatk/gatkdocs/org_broadinstitute_sting_gatk_walkers_variantrecalibration_VariantRecalibrator.html&gt;`_.
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jjohnson
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667
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jjohnson
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668 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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jjohnson
parents:
diff changeset
669
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jjohnson
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670 If you encounter errors, please view the `GATK FAQ &lt;http://www.broadinstitute.org/gatk/guide/topic?name=faqs&gt;`_.
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jjohnson
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671
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jjohnson
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672 ------
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jjohnson
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673
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jjohnson
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674 **Inputs**
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675
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jjohnson
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676 GenomeAnalysisTK: VariantRecalibrator accepts a variant input file.
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677
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678
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jjohnson
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679 **Outputs**
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680
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681 The output is in VCF format.
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682
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683
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684 Go `here &lt;http://www.broadinstitute.org/gatk/guide/topic?name=intro&gt;`_ for details on GATK file formats.
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jjohnson
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685
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jjohnson
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686 -------
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687
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jjohnson
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688 **Settings**::
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689
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690
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691 tranches_file The output tranches file used by ApplyRecalibration
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692 use_annotation The names of the annotations which should used for calculations
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693 mode Recalibration mode to employ: 1.) SNP for recalibrating only snps (emitting indels untouched in the output VCF); 2.) INDEL for indels; and 3.) BOTH for recalibrating both snps and indels simultaneously. (SNP|INDEL|BOTH)
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694 maxGaussians The maximum number of Gaussians to try during variational Bayes algorithm
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jjohnson
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695 maxIterations The maximum number of VBEM iterations to be performed in variational Bayes algorithm. Procedure will normally end when convergence is detected.
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jjohnson
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696 numKMeans The number of k-means iterations to perform in order to initialize the means of the Gaussians in the Gaussian mixture model.
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jjohnson
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697 stdThreshold If a variant has annotations more than -std standard deviations away from mean then don't use it for building the Gaussian mixture model.
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698 qualThreshold If a known variant has raw QUAL value less than -qual then don't use it for building the Gaussian mixture model.
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jjohnson
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diff changeset
699 shrinkage The shrinkage parameter in variational Bayes algorithm.
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jjohnson
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700 dirichlet The dirichlet parameter in variational Bayes algorithm.
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701 priorCounts The number of prior counts to use in variational Bayes algorithm.
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jjohnson
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702 percentBadVariants What percentage of the worst scoring variants to use when building the Gaussian mixture model of bad variants. 0.07 means bottom 7 percent.
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jjohnson
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703 minNumBadVariants The minimum amount of worst scoring variants to use when building the Gaussian mixture model of bad variants. Will override -percentBad arugment if necessary.
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704 recal_file The output recal file used by ApplyRecalibration
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705 target_titv The expected novel Ti/Tv ratio to use when calculating FDR tranches and for display on optimization curve output figures. (approx 2.15 for whole genome experiments). ONLY USED FOR PLOTTING PURPOSES!
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706 TStranche The levels of novel false discovery rate (FDR, implied by ti/tv) at which to slice the data. (in percent, that is 1.0 for 1 percent)
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707 ignore_filter If specified the optimizer will use variants even if the specified filter name is marked in the input VCF file
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708 path_to_Rscript The path to your implementation of Rscript. For Broad users this is maybe /broad/tools/apps/R-2.6.0/bin/Rscript
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709 rscript_file The output rscript file generated by the VQSR to aid in visualization of the input data and learned model
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710 path_to_resources Path to resources folder holding the Sting R scripts.
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711 ts_filter_level The truth sensitivity level at which to start filtering, used here to indicate filtered variants in plots
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712
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713 ------
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714
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715 **Citation**
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716
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717 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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718
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719 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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720
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721 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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722
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723 </help>
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724 </tool>