Mercurial > repos > jjohnson > snpeff
annotate snpEff.xml @ 6:eb394dd65c98
Add mutli-select to data managers from Bjoern, filter unique database options in snpEff_download.xml snpEff.xml
author | Jim Johnson <jj@umn.edu> |
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date | Thu, 28 Nov 2013 08:16:11 -0600 |
parents | 8952990fcab9 |
children | 0ad9733e22a4 |
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1 <tool id="snpEff" name="SnpEff" version="3.4"> |
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2 <description>Variant effect and annotation</description> |
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3 <requirements> |
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4 <requirement type="package" version="3.4">snpEff</requirement> |
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5 </requirements> |
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6 <command> |
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7 java -Xmx6G -jar \$SNPEFF_JAR_PATH/snpEff.jar eff |
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8 -c \$SNPEFF_JAR_PATH/snpEff.config |
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9 -i $inputFormat -o $outputFormat -upDownStreamLen $udLength |
0 | 10 #if $spliceSiteSize and $spliceSiteSize.__str__ != '': |
11 -spliceSiteSize $spliceSiteSize | |
12 #end if | |
13 #if $filterIn and $filterIn.__str__ != 'no_filter': | |
2 | 14 $filterIn |
0 | 15 #end if |
16 #if $filterHomHet and $filterHomHet.__str__ != 'no_filter': | |
2 | 17 $filterHomHet |
0 | 18 #end if |
19 #if $annotations and $annotations.__str__ != '': | |
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20 #echo " " |
2 | 21 #echo ' '.join($annotations.__str__.split(',')) |
22 #end if | |
0 | 23 #if $filterOut and $filterOut.__str__ != '': |
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24 #echo " " |
2 | 25 #echo ' '.join($filterOut.__str__.split(',')) |
0 | 26 #end if |
27 #if str( $transcripts ) != 'None': | |
28 -onlyTr $transcripts | |
29 #end if | |
30 #if str( $intervals ) != 'None': ### fix this for multiple dataset input | |
31 -interval $intervals | |
32 #end if | |
33 #if $statsFile: | |
34 -stats $statsFile | |
35 #end if | |
36 #if $offset.__str__ != '': | |
2 | 37 ${offset} |
0 | 38 #end if |
39 #if $chr.__str__.strip() != '': | |
40 -chr "$chr" | |
41 #end if | |
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42 $noLog |
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43 #if $snpDb.genomeSrc == 'cached': |
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44 -dataDir ${snpDb.genomeVersion.fields.path} |
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45 #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': |
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46 #echo " " |
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47 #echo ' '.join($snpDb.extra_annotations.__str__.split(',')) |
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48 #end if |
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49 #if $snpDb.regulation and $snpDb.regulation.__str__ != '': |
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50 -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# |
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51 #end if |
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52 $snpDb.genomeVersion |
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53 #elif $snpDb.genomeSrc == 'history': |
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54 -dataDir ${snpDb.snpeff_db.extra_files_path} |
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55 #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': |
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56 #set annotations = [' '] + $snpDb.extra_annotations.__str__.split(',') |
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57 #echo " " |
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58 #echo ' -'.join($annotations) |
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59 #end if |
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60 #if $snpDb.regulation and $snpDb.regulation.__str__ != '': |
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61 -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# |
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62 #end if |
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63 ${snpDb.snpeff_db.metadata.genome_version} |
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64 #else |
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65 -download |
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66 $snpDb.genome_version |
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67 #end if |
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68 $input > $snpeff_output |
0 | 69 </command> |
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70 <inputs> |
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71 <param format="vcf,tabular,pileup,bed" name="input" type="data" label="Sequence changes (SNPs, MNPs, InDels)"/> |
0 | 72 |
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73 <param name="inputFormat" type="select" label="Input format"> |
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74 <option value="vcf" selected="true">VCF</option> |
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75 <option value="txt">Tabular (Deprecated)</option> |
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76 <option value="pileup">Pileup (Deprecated)</option> |
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77 <option value="bed">BED (Deprecated)</option> |
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78 </param> |
0 | 79 |
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80 <param name="outputFormat" type="select" label="Output format"> |
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81 <option value="vcf" selected="true">VCF (only if input is VCF)</option> |
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82 <option value="txt">Tabular</option> |
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83 <option value="bed">BED</option> |
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84 <option value="bedAnn">BED Annotations</option> |
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85 </param> |
0 | 86 |
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87 <conditional name="snpDb"> |
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88 <param name="genomeSrc" type="select" label=""> |
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89 <option value="cached">Locally cached</option> |
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90 <option value="history">history</option> |
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91 <option value="named">named on demand</option> |
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92 </param> |
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93 <when value="cached"> |
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94 <param name="genomeVersion" type="select" label="Genome"> |
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95 <!--GENOME DESCRIPTION--> |
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96 <options from_data_table="snpeff_genomedb"> |
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97 <filter type="unique_value" column="0" /> |
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98 </options> |
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99 </param> |
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100 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional Annotations"> |
2 | 101 <help>These are available for only a few genomes</help> |
102 <options from_data_table="snpeff_annotations"> | |
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103 <filter type="param_value" ref="genomeVersion" key="genome" column="0" /> |
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104 </options> |
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105 </param> |
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106 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory Annotation"> |
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107 <help>These are available for only a few genomes</help> |
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108 <options from_data_table="snpeff_regulationdb"> |
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109 <filter type="param_value" ref="genomeVersion" key="genome" column="0" /> |
2 | 110 </options> |
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111 </param> |
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112 </when> |
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113 <when value="history"> |
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114 <param format="snpeffdb" name="snpeff_db" type="data" label="SnpEff Genome Version Data"/> |
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115 <!-- From metadata --> |
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116 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional Annotations"> |
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117 <help>These are available for only a few genomes</help> |
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118 <options> |
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119 <filter type="data_meta" ref="snpeff_db" key="annotation" /> |
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120 </options> |
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121 </param> |
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122 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory Annotation"> |
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123 <help>These are available for only a few genomes</help> |
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124 <options> |
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125 <filter type="data_meta" ref="snpeff_db" key="regulation" /> |
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126 </options> |
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127 </param> |
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128 </when> |
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129 <when value="named"> |
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130 <param name="genome_version" type="text" value="GRCh37.68" label="Snpff Version Name"/> |
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131 </when> |
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132 </conditional> |
0 | 133 |
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134 <param name="udLength" type="select" label="Upstream / Downstream length"> |
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135 <option value="0">No upstream / downstream intervals (0 bases)</option> |
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136 <option value="200">200 bases</option> |
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137 <option value="500">500 bases</option> |
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138 <option value="1000">1000 bases</option> |
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139 <option value="2000">2000 bases</option> |
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140 <option value="5000" selected="true">5000 bases</option> |
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141 <option value="10000">10000 bases</option> |
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142 <option value="20000">20000 bases</option> |
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143 </param> |
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145 <param name="spliceSiteSize" type="select" optional="true" label="Set size for splice sites (donor and acceptor) in bases. Default: 2"> |
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146 <option value="1">1 base</option> |
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147 <option value="2">2 bases</option> |
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148 <option value="3">3 bases</option> |
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149 <option value="4">4 bases</option> |
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150 <option value="5">5 bases</option> |
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151 <option value="6">6 bases</option> |
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152 <option value="7">7 bases</option> |
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153 <option value="8">8 bases</option> |
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154 <option value="9">9 bases</option> |
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155 </param> |
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156 |
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157 <param name="filterHomHet" type="select" display="radio" label="Filter homozygous / heterozygous changes"> |
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158 <option value="no_filter" selected="true">No filter (analyze everything)</option> |
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159 <option value="-hom">Analyze homozygous sequence changes only </option> |
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160 <option value="-het">Analyze heterozygous sequence changes only </option> |
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161 </param> |
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162 |
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163 <!-- The tool testing code can not handle select,radio,check boxes values that start with '-', so the '-' is added in the command generation --> |
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164 <param name="filterIn" type="select" display="radio" label="Filter sequence changes"> |
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165 <option value="no_filter" selected="true">No filter (analyze everything)</option> |
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166 <option value="-del">Analyze deletions only </option> |
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167 <option value="-ins">Analyze insertions only </option> |
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168 <option value="-mnp">Only MNPs (multiple nucleotide polymorphisms) </option> |
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169 <option value="-snp">Only SNPs (single nucleotide polymorphisms) </option> |
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170 </param> |
2 | 171 |
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172 <param name="annotations" type="select" display="checkboxes" multiple="true" label="Annotation options"> |
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173 <option value="-cancer">Perform 'cancer' comparissons (Somatic vs Germline). Default: false</option> |
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174 <option value="-canon">Only use canonical transcripts.</option> |
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175 <option value="-geneId">Use gene ID instead of gene name (VCF output). Default: false</option> |
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176 <option value="-hgvs">Use HGVS annotations for amino acid sub-field. Default: false</option> |
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177 <option value="-lof">Add loss of function (LOF) and Nonsense mediated decay (NMD) tags.</option> |
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178 <option value="-oicr">Add OICR tag in VCF file. Default: false</option> |
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179 <option value="-onlyReg">Only use regulation tracks.</option> |
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180 <option value="-sequenceOntolgy">Use Sequence Ontolgy terms. Default: false</option> |
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181 </param> |
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182 <param name="intervals" format="bed" type="data" optional="true" label="Use custom interval file for annotation"/> |
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183 <param name="transcripts" format="tabular" type="data" optional="true" label="Only use the transcripts in this file. Format: One transcript ID per line."/> |
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184 <param name="filterOut" type="select" display="checkboxes" multiple="true" label="Filter output"> |
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185 <option value="-no-downstream">Do not show DOWNSTREAM changes </option> |
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186 <option value="-no-intergenic">Do not show INTERGENIC changes </option> |
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187 <option value="-no-intron">Do not show INTRON changes </option> |
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188 <option value="-no-upstream">Do not show UPSTREAM changes </option> |
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189 <option value="-no-utr">Do not show 5_PRIME_UTR or 3_PRIME_UTR changes </option> |
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190 </param> |
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191 |
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192 <param name="offset" type="select" display="radio" optional="true" label="Chromosomal position"> |
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193 <option value="" selected="true">Use default (based on input type)</option> |
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194 <option value="-0">Force zero-based positions (both input and output)</option> |
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195 <option value="-1">Force one-based positions (both input and output)</option> |
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196 </param> |
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197 <param name="chr" type="text" optionl="true" label="Text to prepend to chromosome name"> |
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198 <help> |
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199 By default SnpEff simplifies all chromosome names. For instance 'chr1' is just '1'. |
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200 You can prepend any string you want to the chromosome name." |
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201 </help> |
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202 <validator type="regex" message="No whitespace allows">^\S*$</validator> |
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204 </param> |
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205 <param name="generate_stats" type="boolean" truevalue="" falsevalue="-noStats" checked="true" label="Produce Summary Stats"/> |
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206 <param name="noLog" type="boolean" truevalue="-noLog" falsevalue="" checked="true" label="Do not report usage statistics to server"/> |
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207 </inputs> |
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208 <outputs> |
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209 <data format="vcf" name="snpeff_output" > |
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210 <change_format> |
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211 <when input="outputFormat" value="vcf" format="vcf" /> |
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212 <when input="outputFormat" value="txt" format="tabular" /> |
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213 <when input="outputFormat" value="bed" format="bed" /> |
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214 <when input="outputFormat" value="bedAnn" format="bed" /> |
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215 </change_format> |
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216 </data> |
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217 |
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218 <data format="html" name="statsFile"> |
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219 <filter>generate_stats == True</filter> |
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220 </data> |
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221 </outputs> |
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222 <stdio> |
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223 <exit_code range="1:" level="fatal" description="Error" /> |
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224 <exit_code range="-1" level="fatal" description="Error: Cannot open file" /> |
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225 </stdio> |
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226 <tests> |
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227 <!-- Check that an effect was added in out VCF --> |
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228 <!-- Check for a HTML header indicating that this was successful --> |
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229 <!-- |
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230 <output name="statsFile"> |
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231 <assert_contents> |
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232 <has_text text="SnpEff: Variant analysis" /> |
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233 </assert_contents> |
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234 </output> |
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235 --> |
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236 <!-- Setting filterOut throws exception in twilltestcase.py |
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237 <test> |
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238 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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239 <param name="inputFormat" value="vcf"/> |
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240 <param name="outputFormat" value="vcf"/> |
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241 <param name="genomeSrc" value="named"/> |
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242 <param name="genome_version" value="testCase"/> |
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243 <param name="udLength" value="0"/> |
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244 <param name="filterHomHet" value="no_filter"/> |
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245 <param name="filterIn" value="no_filter"/> |
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246 <param name="generate_stats" value="False"/> |
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247 <param name="filterOut" value="+-no-upstream"/> |
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248 <output name="snpeff_output"> |
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249 <assert_contents> |
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250 <has_text text="EFF=" /> |
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251 </assert_contents> |
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252 </output> |
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253 </test> |
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254 --> |
0 | 255 |
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256 <test> |
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257 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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258 <param name="inputFormat" value="vcf"/> |
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259 <param name="outputFormat" value="vcf"/> |
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260 <param name="genomeSrc" value="named"/> |
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261 <param name="genome_version" value="testCase"/> |
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262 <param name="udLength" value="0"/> |
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263 <param name="filterHomHet" value="+-het"/> |
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264 <param name="filterIn" value="no_filter"/> |
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265 <!-- |
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266 <param name="filterOut" value=""/> |
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267 --> |
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268 <param name="generate_stats" value="False"/> |
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269 <output name="snpeff_output"> |
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270 <assert_contents> |
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271 <!-- Check that NO effects were added since -het is set --> |
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272 <not_has_text text="EFF=NON_SYNONYMOUS_CODING" /> |
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273 </assert_contents> |
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274 </output> |
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275 </test> |
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276 |
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277 <test> |
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278 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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279 <param name="inputFormat" value="vcf"/> |
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280 <param name="outputFormat" value="vcf"/> |
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281 <param name="genomeSrc" value="named"/> |
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282 <param name="genome_version" value="testCase"/> |
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283 <param name="udLength" value="0"/> |
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284 <param name="filterHomHet" value="no_filter"/> |
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285 <param name="filterIn" value="del"/> |
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286 <!-- |
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287 <param name="filterOut" value=""/> |
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288 --> |
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289 <param name="generate_stats" value="False"/> |
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290 <output name="snpeff_output"> |
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291 <assert_contents> |
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292 <!-- Check that deleletions were evaluated --> |
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293 <has_text_matching expression="Y\t59030478\t.*EFF=INTERGENIC" /> |
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294 <!-- Check that insertion on last line was NOT evaluated --> |
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295 <has_text_matching expression="Y\t59032947\t.*SF=5\tGT" /> |
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296 </assert_contents> |
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297 </output> |
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298 </test> |
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299 |
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300 <!-- Check that NO UPSTREAM effect was added --> |
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301 <!-- Setting filterOut throws exception in twilltestcase.py |
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302 <test> |
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303 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> |
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304 <param name="inputFormat" value="vcf"/> |
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305 <param name="outputFormat" value="vcf"/> |
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306 <param name="genomeSrc" value="named"/> |
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307 <param name="genome_version" value="testCase"/> |
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308 <param name="udLength" value="0"/> |
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309 <param name="filterHomHet" value="no_filter"/> |
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310 <param name="filterIn" value="no_filter"/> |
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311 <param name="filterOut" value="+-no-upstream"/> |
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312 <param name="generate_stats" value="False"/> |
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313 <output name="snpeff_output"> |
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314 <assert_contents> |
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315 <not_has_text text="UPSTREAM" /> |
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316 </assert_contents> |
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317 </output> |
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318 </test> |
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319 --> |
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320 |
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321 </tests> |
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322 <help> |
0 | 323 |
324 This tool calculate the effect of variants (SNPs/MNPs/Insertions) and deletions. | |
325 | |
326 For details about this tool, please go to http://snpEff.sourceforge.net | |
327 | |
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328 SnpEff citation: |
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329 "A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.", Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. Fly (Austin). 2012 Apr-Jun;6(2):80-92. PMID: 22728672 [PubMed - in process] |
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330 |
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331 SnpSift citation: |
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332 "Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift", Cingolani, P., et. al., Frontiers in Genetics, 3, 2012. |
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333 |
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334 </help> |
0 | 335 </tool> |
336 |