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1 <tool id="gatk2_variant_combine" name="Combine Variants" version="@VERSION@.0">
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2 <description></description>
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3 <macros>
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4 <import>gatk2_macros.xml</import>
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5 </macros>
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6 <expand macro="requirements" />
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7 <expand macro="version_command" />
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8 <command interpreter="python">
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9 gatk2_wrapper.py
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10 --stdout "${output_log}"
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11
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12 #set $priority_order = []
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13 #for $input_variant in $reference_source.input_variants:
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14 -d "--variant:${input_variant.input_variant_name},%(file_type)s" "${input_variant.input_variant}" "${input_variant.input_variant.ext}" "input_variant_${input_variant.input_variant_name}"
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15 #set $input_variant_name = str( $input_variant.input_variant_name )
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16 #assert $input_variant_name not in $priority_order, "Variant Names must be unique" ##this should be handled by a validator
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17 #silent $priority_order.append( $input_variant_name )
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18 #end for
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19 -p '
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20 @JAR_PATH@
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21 -T "CombineVariants"
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22 --out "${output_variants}"
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23 \$GATK2_SITE_OPTIONS
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24
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25 @THREADS@
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26
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27 #if $reference_source.reference_source_selector != "history":
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28 -R "${reference_source.ref_file.fields.path}"
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29 #end if
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30 --genotypemergeoption "${genotype_merge_option}"
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31 --rod_priority_list "${ ','.join( $priority_order ) }"
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32 '
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33
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34 #include source=$standard_gatk_options#
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35
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36 ##start analysis specific options
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37 #if $analysis_param_type.analysis_param_type_selector == "advanced":
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38 -p '
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39 --filteredrecordsmergetype "${analysis_param_type.filtered_records_merge_type}"
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40 ${analysis_param_type.print_complex_merges}
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41 ${analysis_param_type.filtered_are_uncalled}
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42 ${analysis_param_type.minimal_vcf}
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43 ${analysis_param_type.assume_identical_samples}
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44
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45 #if str( $analysis_param_type.set_key ):
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46 --setKey "${analysis_param_type.set_key}"
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47 #end if
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48
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49 --minimumN "${analysis_param_type.minimum_n}"
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50 '
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51 #end if
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52 </command>
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53 <inputs>
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54
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55 <conditional name="reference_source">
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56 <expand macro="reference_source_selector_param" />
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57 <when value="cached">
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58 <repeat min="1" name="input_variants" title="Variants to Merge" help="Records will be prioritized in the order that you list them here (-V,--variant &lt;variant&gt;)">
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59 <param name="input_variant" type="data" format="vcf" label="Input variant file" />
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60 <param name="input_variant_name" type="text" value="" label="Variant name" help="Names must be unique">
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61 <validator type="length" min="1" message="You must provide a unique name for this set of variants" />
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62 </param>
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63 </repeat>
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64 <param name="ref_file" type="select" label="Using reference genome" help="-R,--reference_sequence &lt;reference_sequence&gt;">
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65 <options from_data_table="gatk2_picard_indexes">
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66 <!-- <filter type="data_meta" key="dbkey" ref="input_variants.input_variant" column="dbkey"/> -->
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67 </options>
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68 <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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69 </param>
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70 </when>
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71 <when value="history"> <!-- FIX ME!!!! -->
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72 <repeat min="1" name="input_variants" title="Variants to Merge" help="Records will be prioritized in the order that you list them here (-V,--variant &lt;variant&gt;)">
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73 <param name="input_variant" type="data" format="vcf" label="Input variant file" />
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74 <param name="input_variant_name" type="text" value="" label="Variant name" help="Names must be unique">
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75 <validator type="length" min="1" message="You must provide a unique name for this set of variants" />
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76 </param>
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77 </repeat>
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78 <param name="ref_file" type="data" format="fasta" label="Using reference file" help="-R,--reference_sequence &lt;reference_sequence&gt;" />
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79 </when>
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80 </conditional>
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81
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82 <param name="genotype_merge_option" type="select" label="How should we merge genotype records across records for samples shared across the ROD files" help="-genotypeMergeOptions,--genotypemergeoption &lt;genotypemergeoption&gt;" >
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83 <option value="UNIQUIFY" />
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84 <option value="PRIORITIZE" selected="true"/>
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85 <option value="UNSORTED" />
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86 <option value="REQUIRE_UNIQUE" />
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87 </param>
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88
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89 <expand macro="gatk_param_type_conditional" />
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90
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91 <expand macro="analysis_type_conditional">
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92 <param name="filtered_records_merge_type" type="select" label="How should we deal with records seen at the same site in the VCF, but with different FILTER fields?" help="-filteredRecordsMergeType,--filteredrecordsmergetype &lt;filteredrecordsmergetype&gt;" >
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93 <option value="KEEP_IF_ANY_UNFILTERED" selected="true"/>
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94 <option value="KEEP_IF_ALL_UNFILTERED" />
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95 </param>
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96
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97 <param name="print_complex_merges" checked="false" type="boolean" truevalue="--printComplexMerges" falsevalue="" label="Print out interesting sites requiring complex compatibility merging" help="-printComplexMerges,--printComplexMerges" />
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98 <param name="filtered_are_uncalled" checked="false" type="boolean" truevalue="--filteredAreUncalled" falsevalue="" label="If true, then filtered VCFs are treated as uncalled, so that filtered set annotation don't appear in the combined VCF" help="-filteredAreUncalled,--filteredAreUncalled" />
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99 <param name="minimal_vcf" checked="false" type="boolean" truevalue="--minimalVCF" falsevalue="" label="If true, then the output VCF will contain no INFO or genotype INFO field" help="-minimalVCF,--minimalVCF" />
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100
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101 <param name="set_key" type="text" value="" label="Key, by default set, in the INFO key=value tag emitted describing which set the combined VCF record came from." help="-setKey,--setKey &lt;setKey&gt;"/>
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102 <param name="assume_identical_samples" checked="false" type="boolean" truevalue="--assumeIdenticalSamples" falsevalue="" label="If true, assume input VCFs have identical sample sets and disjoint calls so that one can simply perform a merge sort to combine the VCFs into one, drastically reducing the runtime." help="-assumeIdenticalSamples,--assumeIdenticalSamples" />
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103 <param name="minimum_n" type="integer" value="1" label="Combine variants and output site only if variant is present in at least N input files." help="-minN,--minimumN &lt;minimumN&gt;"/>
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104 </expand>
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105
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106 </inputs>
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107 <outputs>
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108 <data format="vcf" name="output_variants" label="${tool.name} on ${on_string} (variants)" />
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109 <data format="txt" name="output_log" label="${tool.name} on ${on_string} (log)" />
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110 </outputs>
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111 <tests>
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112 <test>
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113 <param name="reference_source_selector" value="history" />
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114 <param name="ref_file" value="phiX.fasta" ftype="fasta" />
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115 <param name="input_variant" value="gatk/gatk_variant_annotator/gatk_variant_annotator_out_1.vcf" ftype="vcf" />
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116 <param name="input_variant_name" value="from_variant_annotator" />
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117 <param name="genotype_merge_option" value="PRIORITIZE" />
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118 <param name="gatk_param_type_selector" value="basic" />
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119 <param name="analysis_param_type_selector" value="basic" />
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120 <output name="output_variants" file="gatk/gatk_variant_combine/gatk_variant_combine_out_1.vcf" lines_diff="4" />
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121 <output name="output_log" file="gatk/gatk_variant_combine/gatk_variant_combine_out_1.log.contains" compare="contains" />
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122 </test>
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123 </tests>
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124 <help>
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125 **What it does**
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126
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127 Combines VCF records from different sources; supports both full merges and set unions. Merge: combines multiple records into a single one; if sample names overlap then they are uniquified. Union: assumes each rod represents the same set of samples (although this is not enforced); using the priority list (if provided), emits a single record instance at every position represented in the rods.
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128
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129 For more information on using the CombineVariants module, see this `tool specific page <http://www.broadinstitute.org/gatk/gatkdocs/org_broadinstitute_sting_gatk_walkers_variantutils_CombineVariants.html>`_.
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130
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131 To learn about best practices for variant detection using GATK, see this `overview <http://www.broadinstitute.org/gatk/guide/topic?name=best-practices>`_.
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132
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133 If you encounter errors, please view the `GATK FAQ <http://www.broadinstitute.org/gatk/guide/topic?name=faqs>`_.
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134
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135 ------
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136
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137 **Inputs**
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138
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139 GenomeAnalysisTK: CombineVariants accepts variant files as input.
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140
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141 ------
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142
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143 **Outputs**
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144
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145 The output is a combined vcf file.
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146
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147
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148 Go `here <http://www.broadinstitute.org/gatk/guide/topic?name=intro>`_ for details on GATK file formats.
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149
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150 -------
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151
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152 **Settings**::
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153
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154 out File to which variants should be written
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155 genotypemergeoption How should we merge genotype records for samples shared across the ROD files? (UNIQUIFY|PRIORITIZE|UNSORTED|REQUIRE_UNIQUE)
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156 filteredrecordsmergetype How should we deal with records seen at the same site in the VCF, but with different FILTER fields? KEEP_IF_ANY_UNFILTERED PASSes the record if any record is unfiltered, KEEP_IF_ALL_UNFILTERED requires all records to be unfiltered (KEEP_IF_ANY_UNFILTERED|KEEP_IF_ALL_UNFILTERED)
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157 rod_priority_list When taking the union of variants containing genotypes: a comma-separated string describing the priority ordering for the genotypes as far as which record gets emitted; a complete priority list MUST be provided
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158 printComplexMerges Print out interesting sites requiring complex compatibility merging
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159 filteredAreUncalled If true, then filtered VCFs are treated as uncalled, so that filtered set annotation don't appear in the combined VCF
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160 minimalVCF If true, then the output VCF will contain no INFO or genotype INFO field
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161 setKey Key, by default set, in the INFO key=value tag emitted describing which set the combined VCF record came from. Set to null if you don't want the set field emitted.
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162 assumeIdenticalSamples If true, assume input VCFs have identical sample sets and disjoint calls so that one can simply perform a merge sort to combine the VCFs into one, drastically reducing the runtime.
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163 minimumN Combine variants and output site only if variant is present in at least N input files.
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164
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165 @CITATION_SECTION@
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166 </help>
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167 <expand macro="citations" />
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168 </tool>
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