annotate snpEff.xml @ 7:b26a1aff7f81

Fix issues with snpEff commandline template and add test cases
author Jim Johnson <jj@umn.edu>
date Thu, 28 Mar 2013 12:29:45 -0500
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children 13b6ad2ddace
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1 <tool id="snpEff" name="SnpEff" version="3.1">
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2 <description>Variant effect and annotation</description>
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3 <!--
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4 You will need to change the path to wherever your installation is.
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5 You can change the amount of memory used by snpEff, just change the -Xmx parameter (e.g. use -Xmx2G for 2Gb of memory)
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6 <command>java -Xmx6G -jar /path/to/your/snpEff/snpEff.jar eff -c /path/to/your/snpEff/snpEff/snpEff.config $inputFormat $offset -upDownStreamLen $udLength $filterIn $filterHomHet -no $filterOut -stats $statsFile $genomeVersion $input > $output </command>
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7 -->
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8 <requirements>
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9 <requirement type="package" version="3.1">snpEff</requirement>
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10 </requirements>
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11 <command>
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12 SNPEFF_DATA_DIR=`grep '^data_dir' \$JAVA_JAR_PATH/snpEff.config | sed 's/.*data_dir.*[=:]//'`;
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13 eval "if [ ! -e \$SNPEFF_DATA_DIR/$genomeVersion ] ;
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14 then java -Xmx6G -jar \$JAVA_JAR_PATH/snpEff.jar download -c \$JAVA_JAR_PATH/snpEff.config $genomeVersion ;
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15 fi";
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16 java -Xmx6G -jar \$JAVA_JAR_PATH/snpEff.jar eff -c \$JAVA_JAR_PATH/snpEff.config -i $inputFormat -o $outputFormat -upDownStreamLen $udLength
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17 #if $filterIn and $filterIn.__str__ != 'no_filter':
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18 -$filterIn
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19 #end if
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20 #if $filterHomHet and $filterHomHet.__str__ != 'no_filter':
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21 -$filterHomHet
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22 #end if
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23 #if $filterOut and $filterOut.__str__ != '':
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24 #echo ' '.join($filterOut.__str__.split(','))
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25 #end if
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26 #if $statsFile:
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27 -stats $statsFile
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28 #end if
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29 #if $offset.__str__ != '':
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30 -${offset}
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31 #end if
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32 $genomeVersion $input > $snpeff_output
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33 </command>
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34 <inputs>
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35 <param format="vcf,tabular,pileup,bed" name="input" type="data" label="Sequence changes (SNPs, MNPs, InDels)"/>
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36
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37 <param name="inputFormat" type="select" label="Input format">
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38 <option value="vcf">VCF</option>
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39 <option value="txt">Tabular</option>
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40 <option value="pileup">Pileup</option>
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41 <option value="bed">BED</option>
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42 </param>
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43
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44 <param name="outputFormat" type="select" label="Output format">
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45 <option value="txt">Tabular</option>
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46 <option value="vcf">VCF (only if input is VCF)</option>
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47 <option value="bed">BED</option>
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48 <option value="bedAnn">BED Annotations</option>
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49 </param>
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50
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51 <param name="genomeVersion" type="select" label="Genome">
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52 <options from_file="snpeffect_genomedb.loc">
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53 <column name="name" index="1"/>
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54 <column name="value" index="0"/>
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55 </options>
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56 </param>
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57
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58 <param name="udLength" type="select" label="Upstream / Downstream length">
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59 <option value="0">No upstream / downstream intervals (0 bases)</option>
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60 <option value="200">200 bases</option>
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61 <option value="500">500 bases</option>
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62 <option value="1000">1000 bases</option>
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63 <option value="2000">2000 bases</option>
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64 <option value="5000" selected="true">5000 bases</option>
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65 <option value="10000">10000 bases</option>
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66 <option value="20000">20000 bases</option>
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67 </param>
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68
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69 <param name="filterHomHet" type="select" display="radio" label="Filter homozygous / heterozygous changes">
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70 <option value="no_filter" selected="true">No filter (analyze everything)</option>
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71 <option value="hom">Analyze homozygous sequence changes only </option>
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72 <option value="het">Analyze heterozygous sequence changes only </option>
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73 </param>
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74
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75 <param name="filterIn" type="select" display="radio" label="Filter sequence changes">
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76 <option value="no_filter" selected="true">No filter (analyze everything)</option>
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77 <option value="del">Analyze deletions only </option>
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78 <option value="ins">Analyze insertions only </option>
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79 <option value="nmp">Only MNPs (multiple nucleotide polymorphisms) </option>
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80 <option value="snp">Only SNPs (single nucleotide polymorphisms) </option>
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81 </param>
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82
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83 <param name="filterOut" type="select" display="checkboxes" multiple="true" optional="true" label="Filter output">
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84 <option value="-no-downstream">Do not show DOWNSTREAM changes </option>
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85 <option value="-no-intergenic">Do not show INTERGENIC changes </option>
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86 <option value="-no-intron">Do not show INTRON changes </option>
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87 <option value="-no-upstream">Do not show UPSTREAM changes </option>
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88 <option value="-no-utr">Do not show 5_PRIME_UTR or 3_PRIME_UTR changes </option>
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89 </param>
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90
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91 <param name="offset" type="select" display="radio" optional="true" label="Chromosomal position">
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92 <option value="" selected="true">Use default (based on input type)</option>
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93 <option value="0">Force zero-based positions (both input and output)</option>
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94 <option value="1">Force one-based positions (both input and output)</option>
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95 </param>
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96 <param name="generate_stats" type="boolean" truevalue="" falsevalue="-noStats" checked="true" label="Produce Summary Stats"/>
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97 </inputs>
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98 <outputs>
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99 <data format="tabular" name="snpeff_output" >
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100 <change_format>
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101 <when input="outputFormat" value="txt" format="tabular" />
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102 <when input="outputFormat" value="vcf" format="vcf" />
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103 <when input="outputFormat" value="bed" format="bed" />
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104 <when input="outputFormat" value="bedAnn" format="bed" />
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105 </change_format>
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106 </data>
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107
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108 <data format="html" name="statsFile">
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109 <filter>generate_stats == True</filter>
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110 </data>
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111 </outputs>
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112 <stdio>
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113 <exit_code range=":-1" level="fatal" description="Error: Cannot open file" />
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114 <exit_code range="1:" level="fatal" description="Error" />
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115 </stdio>
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116 <tests>
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117 <test>
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118 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/>
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119 <param name="inputFormat" value="vcf"/>
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120 <param name="outputFormat" value="vcf"/>
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121 <param name="genomeVersion" value="testCase"/>
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122 <param name="udLength" value="0"/>
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123 <param name="filterHomHet" value="no_filter"/>
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124 <param name="filterIn" value="no_filter"/>
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125 <param name="filterOut" value="-no-upstream"/>
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126 <output name="snpeff_output">
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127 <assert_contents>
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128 <!-- Check that an effect was added -->
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129 <has_text text="EFF=NON_SYNONYMOUS_CODING" />
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130 </assert_contents>
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131 </output>
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132 <output name="statsFile">
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133 <assert_contents>
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134 <!-- Check for a HTML header indicating that this was successful -->
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135 <has_text text="SnpEff: Variant analysis" />
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136 </assert_contents>
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137 </output>
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138 </test>
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139 <test>
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140 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/>
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141 <param name="inputFormat" value="vcf"/>
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142 <param name="outputFormat" value="vcf"/>
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143 <param name="genomeVersion" value="testCase"/>
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144 <param name="udLength" value="0"/>
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145 <param name="filterHomHet" value="het"/>
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146 <param name="filterIn" value="no_filter"/>
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147 <!--
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148 <param name="filterOut" value=""/>
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149 -->
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150 <param name="generate_stats" value="False"/>
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151 <output name="snpeff_output">
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152 <assert_contents>
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153 <!-- Check that NO effects were added since -het is set -->
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154 <not_has_text text="EFF=NON_SYNONYMOUS_CODING" />
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155 </assert_contents>
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156 </output>
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157 </test>
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158 <test>
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159 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/>
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160 <param name="inputFormat" value="vcf"/>
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161 <param name="outputFormat" value="vcf"/>
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162 <param name="genomeVersion" value="testCase"/>
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163 <param name="udLength" value="0"/>
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164 <param name="filterHomHet" value="no_filter"/>
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165 <param name="filterIn" value="del"/>
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166 <!--
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167 <param name="filterOut" value=""/>
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168 -->
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169 <param name="generate_stats" value="False"/>
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170 <output name="snpeff_output">
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171 <assert_contents>
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172 <!-- Check that deleletions were evaluated -->
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173 <has_text_matching expression="Y\t59030478\t.*EFF=INTERGENIC" />
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174 <!-- Check that insertion on last line was NOT evaluated -->
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175 <has_text_matching expression="Y\t59032947\t.*SF=5\tGT" />
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176 </assert_contents>
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177 </output>
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178 </test>
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179 <test>
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180 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/>
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181 <param name="inputFormat" value="vcf"/>
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182 <param name="outputFormat" value="vcf"/>
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183 <param name="genomeVersion" value="testCase"/>
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184 <param name="udLength" value="0"/>
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185 <param name="filterHomHet" value="no_filter"/>
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186 <param name="filterIn" value="no_filter"/>
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187 <param name="filterOut" value="-no-upstream"/>
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188 <param name="generate_stats" value="False"/>
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189 <output name="snpeff_output">
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190 <assert_contents>
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191 <!-- Check that NO UPSTREAM effect was added -->
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192 <not_has_text text="UPSTREAM" />
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193 </assert_contents>
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194 </output>
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195 </test>
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196
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197 </tests>
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198 <help>
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199
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200 This tool calculate the effect of variants (SNPs/MNPs/Insertions) and deletions.
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201
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202 For details about this tool, please go to http://snpEff.sourceforge.net
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203
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204 </help>
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205 </tool>
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206