Mercurial > repos > iuc > snpeff
annotate snpEff.xml @ 5:2950d5afa3fe draft
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit d12355cea76843e3ed6f09d96c3e9fe22afe4a4f
author | iuc |
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date | Mon, 05 Dec 2016 12:11:06 -0500 |
parents | 698ef30638a8 |
children | 7adfd0589f49 |
rev | line source |
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1 | 1 <tool id="snpEff" name="SnpEff" version="@WRAPPER_VERSION@.0"> |
0 | 2 <description>Variant effect and annotation</description> |
3 <macros> | |
4 <import>snpEff_macros.xml</import> | |
5 </macros> | |
2
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
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6 <expand macro="requirements" /> |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
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7 <expand macro="stdio" /> |
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b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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8 <expand macro="version_command" /> |
0 | 9 <command> |
1 | 10 <![CDATA[ |
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698ef30638a8
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 00efb7078cfb3664ef048925d0a6b02d8578c27d
iuc
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11 @CONDA_SNPEFF_JAR_PATH@ && |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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12 java -Xmx6G -jar "\$SNPEFF_JAR_PATH/snpEff.jar" eff |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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13 -c "\$SNPEFF_JAR_PATH/snpEff.config" |
1 | 14 -i $inputFormat -o ${outputConditional.outputFormat} -upDownStreamLen $udLength |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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15 #if $spliceSiteSize and str($spliceSiteSize) != '': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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16 -spliceSiteSize "$spliceSiteSize" |
0 | 17 #end if |
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b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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18 #if $spliceRegion.setSpliceRegions == 'yes': |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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19 #if $spliceRegion.spliceRegionExonSize and str($spliceRegion.spliceRegionExonSize) != '': |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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20 -spliceRegionExonSize $spliceRegion.spliceRegionExonSize |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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21 #end if |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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22 #if $spliceRegion.spliceRegionIntronMin and str($spliceRegion.spliceRegionIntronMin) != '': |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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23 -spliceRegionIntronMin $spliceRegion.spliceRegionIntronMin |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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24 #end if |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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25 #if $spliceRegion.spliceRegionIntronMax and str($spliceRegion.spliceRegionIntronMax) != '': |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
parents:
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26 -spliceRegionIntronMax $spliceRegion.spliceRegionIntronMax |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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27 #end if |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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28 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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29 #if $annotations and str($annotations) != '': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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30 #echo " " |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
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31 #echo ' '.join(str($annotations).split(',')) |
0 | 32 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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33 #if $filterOut and str($filterOut) != '': |
0 | 34 #echo " " |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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35 #echo ' '.join(str($filterOut).split(',')) |
0 | 36 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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37 #if $filter.specificEffects == 'yes' and $filter.effects: |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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38 #for $eff in str($filter.effects).split(','): |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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39 -no $eff |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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40 #end for |
0 | 41 #end if |
42 #if str( $transcripts ) != 'None': | |
43 -onlyTr $transcripts | |
44 #end if | |
45 #if str( $intervals ) != 'None': ### fix this for multiple dataset input | |
46 -interval $intervals | |
47 #end if | |
48 #if $statsFile: | |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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49 -stats $statsFile |
0 | 50 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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51 #if str($offset) != 'default': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
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52 ${offset} |
0 | 53 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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54 #if str($chr).strip() != '': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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55 -chr "$chr" |
0 | 56 #end if |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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57 $noLog |
0 | 58 #if $snpDb.genomeSrc == 'cached': |
59 -dataDir ${snpDb.genomeVersion.fields.path} | |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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60 #if $snpDb.extra_annotations and str($snpDb.extra_annotations) != '': |
0 | 61 #echo " " |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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62 #echo ' '.join(str($snpDb.extra_annotations).split(',')) |
0 | 63 #end if |
2
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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64 #if $snpDb.regulation and str($snpDb.regulation) != '': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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65 -reg #echo ' -reg '.join(str($snpDb.regulation).split(','))# |
0 | 66 #end if |
67 $snpDb.genomeVersion | |
68 #elif $snpDb.genomeSrc == 'history': | |
69 -dataDir ${snpDb.snpeff_db.extra_files_path} | |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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70 #if $snpDb.extra_annotations and str($snpDb.extra_annotations) != '': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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71 #set xannotations = [' '] + str($snpDb.extra_annotations).split(',') |
0 | 72 #echo " " |
73 #echo ' -'.join($xannotations) | |
74 #end if | |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
parents:
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75 #if $snpDb.regulation and str($snpDb.regulation) != '': |
e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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76 -reg #echo ' -reg '.join(str($snpDb.regulation).split(','))# |
0 | 77 #end if |
78 ${snpDb.snpeff_db.metadata.genome_version} | |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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79 #else |
0 | 80 -download |
81 $snpDb.genome_version | |
82 #end if | |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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83 "$input" > "$snpeff_output"; |
1 | 84 #if $statsFile: |
85 #import os | |
86 #set $genes_file = str($statsFile) + '.genes.txt' | |
87 #set $genes_file_name = os.path.split($genes_file)[-1] | |
88 mkdir $statsFile.files_path; | |
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e09ce114d240
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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89 mv "$genes_file" #echo os.path.join($statsFile.files_path, $genes_file_name)#; |
1 | 90 #end if |
91 #if $outputConditional.outputFormat == 'gatk' and $outputConditional.gatk_v1 | |
92 ## Replace real SnpEff version with 2.0.5 to prevent this GATK 1.x error: "The version of SnpEff used to generate the SnpEff input file (x.x) is not currently supported by the GATK. Supported versions are: [2.0.5]" | |
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2950d5afa3fe
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit d12355cea76843e3ed6f09d96c3e9fe22afe4a4f
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93 sed -i.bak -e 's/^\#\#SnpEffVersion="\(\S*\s\)/\#\#SnpEffVersion="2.0.5 - real is \1/' "$snpeff_output" |
1 | 94 #end if |
95 ]]> | |
0 | 96 </command> |
97 <inputs> | |
98 <param format="vcf,tabular,pileup,bed" name="input" type="data" label="Sequence changes (SNPs, MNPs, InDels)"/> | |
99 | |
100 <param name="inputFormat" type="select" label="Input format"> | |
101 <option value="vcf" selected="true">VCF</option> | |
102 <option value="bed">BED (Deprecated)</option> | |
103 </param> | |
104 | |
1 | 105 <conditional name="outputConditional"> |
106 <param name="outputFormat" type="select" label="Output format"> | |
107 <option value="vcf" selected="true">VCF (only if input is VCF)</option> | |
108 <option value="gatk">GATK-compatible VCF (only if input is VCF)</option> | |
109 <option value="bed">BED</option> | |
110 <option value="bedAnn">BED annotations</option> | |
111 </param> | |
112 <when value="vcf" /> | |
113 <when value="gatk"> | |
114 <param name="gatk_v1" type="boolean" checked="true" label="Compatible with GATK 1.x" /> | |
115 </when> | |
116 <when value="bed" /> | |
117 <when value="bedAnn" /> | |
118 </conditional> | |
0 | 119 |
120 <conditional name="snpDb"> | |
121 <param name="genomeSrc" type="select" label="Genome source"> | |
122 <option value="cached">Locally installed reference genome</option> | |
123 <option value="history">Reference genome from your history</option> | |
124 <option value="named">Named on demand</option> | |
125 </param> | |
126 <when value="cached"> | |
127 <param name="genomeVersion" type="select" label="Genome"> | |
128 <!--GENOME DESCRIPTION--> | |
1 | 129 <options from_data_table="snpeffv_genomedb"> |
130 <filter type="static_value" name="snpeff_version" value="@SNPEFF_VERSION@" column="1"/> | |
131 <filter type="unique_value" column="2" /> | |
0 | 132 </options> |
133 </param> | |
1 | 134 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional annotations"> |
0 | 135 <help>These are available for only a few genomes</help> |
1 | 136 <options from_data_table="snpeffv_annotations"> |
137 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> | |
138 <filter type="unique_value" column="3" /> | |
0 | 139 </options> |
140 </param> | |
1 | 141 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation"> |
0 | 142 <help>These are available for only a few genomes</help> |
1 | 143 <options from_data_table="snpeffv_regulationdb"> |
144 <filter type="param_value" ref="genomeVersion" key="genome" column="2" /> | |
145 <filter type="unique_value" column="3" /> | |
0 | 146 </options> |
147 </param> | |
148 </when> | |
149 <when value="history"> | |
1 | 150 <param format="snpeffdb" name="snpeff_db" type="data" label="@SNPEFF_VERSION@ Genome Data"> |
151 <options options_filter_attribute="metadata.snpeff_version" > | |
152 <filter type="add_value" value="@SNPEFF_VERSION@" /> | |
153 </options> | |
154 <validator type="expression" message="This version of SnpEff will only work with @SNPEFF_VERSION@ Genome databases.">value is not None and value.metadata.snpeff_version == "@SNPEFF_VERSION@"</validator> | |
155 </param> | |
0 | 156 <!-- From metadata --> |
1 | 157 <param name="extra_annotations" type="select" display="checkboxes" multiple="true" label="Additional annotations"> |
0 | 158 <help>These are available for only a few genomes</help> |
159 <options> | |
160 <filter type="data_meta" ref="snpeff_db" key="annotation" /> | |
161 </options> | |
162 </param> | |
1 | 163 <param name="regulation" type="select" display="checkboxes" multiple="true" label="Non-coding and regulatory annotation"> |
0 | 164 <help>These are available for only a few genomes</help> |
165 <options> | |
166 <filter type="data_meta" ref="snpeff_db" key="regulation" /> | |
167 </options> | |
168 </param> | |
169 </when> | |
170 <when value="named"> | |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff
iuc
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171 <param name="genome_version" type="text" value="" label="Snpff Genome Version Name (e.g. GRCh38.76)"> |
1 | 172 <help>@SNPEFF_DATABASE_URL@</help> |
173 <validator type="regex" message="A genome version name is required">\S+</validator> | |
174 </param> | |
0 | 175 </when> |
176 </conditional> | |
177 | |
178 <param name="udLength" type="select" label="Upstream / Downstream length"> | |
179 <option value="0">No upstream / downstream intervals (0 bases)</option> | |
180 <option value="200">200 bases</option> | |
181 <option value="500">500 bases</option> | |
182 <option value="1000">1000 bases</option> | |
183 <option value="2000">2000 bases</option> | |
184 <option value="5000" selected="true">5000 bases</option> | |
185 <option value="10000">10000 bases</option> | |
186 <option value="20000">20000 bases</option> | |
187 </param> | |
188 | |
189 <param name="spliceSiteSize" type="select" optional="true" label="Set size for splice sites (donor and acceptor) in bases" help="Default: 2"> | |
190 <option value="1">1 base</option> | |
1 | 191 <option value="2" selected="true">2 bases</option> |
0 | 192 <option value="3">3 bases</option> |
193 <option value="4">4 bases</option> | |
194 <option value="5">5 bases</option> | |
195 <option value="6">6 bases</option> | |
196 <option value="7">7 bases</option> | |
197 <option value="8">8 bases</option> | |
198 <option value="9">9 bases</option> | |
199 </param> | |
200 | |
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b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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201 <conditional name="spliceRegion"> |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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202 <param name="setSpliceRegions" type="select" label="spliceRegion Settings"> |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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203 <option value="no">Use Defaults</option> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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204 <option value="yes">Set Splice Region Parameters</option> |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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205 </param> |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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206 <when value="no"/> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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207 <when value="yes"> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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208 <param name="spliceRegionExonSize" type="integer" value="" min="1" max="10" optional="true" label="Set size for splice site region within exons. Default: 3 bases"/> |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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209 <param name="spliceRegionIntronMin" type="integer" value="" min="1" max="10" optional="true" label="Set minimum number of bases for splice site region within intron. Default: 3 bases"/> |
b24873564cf6
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
iuc
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210 <param name="spliceRegionIntronMax" type="integer" value="" min="1" max="10" optional="true" label="Set maximum number of bases for splice site region within intron. Default: 8 bases"/> |
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211 </when> |
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212 </conditional> |
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213 |
0 | 214 <param name="annotations" type="select" display="checkboxes" multiple="true" label="Annotation options"> |
1 | 215 <option value="-cancer">Perform 'cancer' comparisons (somatic vs. germline)</option> |
0 | 216 <option value="-canon">Only use canonical transcripts</option> |
217 <option value="-geneId">Use gene ID instead of gene name (VCF output)</option> | |
1 | 218 <option value="-lof">Add loss of function (LOF) and nonsense mediated decay (NMD) tags</option> |
0 | 219 <option value="-oicr">Add OICR tag in VCF file</option> |
220 <option value="-onlyReg">Only use regulation tracks</option> | |
1 | 221 <option value="-classic">Use Classic Effect names and amino acid variant annotations (NON_SYNONYMOUS_CODING vs missense_variant and G180R vs p.Gly180Arg/c.538G>C)</option> |
222 <option value="-hgvs">Override classic and use HGVS annotations for amino acid annotations (p.Gly180Arg/c.538G>C vs G180R)</option> | |
223 <option value="-sequenceOntology">Override classic and use Sequence Ontolgy terms for effects (missense_variant vs NON_SYNONYMOUS_CODING)</option> | |
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224 <option value="-formatEff">Use 'EFF' field compatible with older versions (instead of 'ANN').</option> |
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225 <option value="-noHgvs">Do not add HGVS annotations.</option> |
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226 <option value="-noLof">Do not add LOF and NMD annotations.</option> |
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227 <option value="-noShiftHgvs">Do not shift variants according to HGVS notation (most 3prime end).</option> |
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228 <option value="-oicr">Add OICR tag in VCF file. Default: false</option> |
0 | 229 </param> |
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230 <!-- -cancerSamples <file> : Two column TXT file defining 'oringinal \t derived' samples. --> |
0 | 231 <param name="intervals" format="bed" type="data" optional="true" label="Use custom interval file for annotation"/> |
232 <param name="transcripts" format="tabular" type="data" optional="true" label="Only use the transcripts in this file." help="Format is one transcript ID per line."/> | |
233 <param name="filterOut" type="select" display="checkboxes" multiple="true" label="Filter output"> | |
234 <option value="-no-downstream">Do not show DOWNSTREAM changes</option> | |
235 <option value="-no-intergenic">Do not show INTERGENIC changes</option> | |
236 <option value="-no-intron">Do not show INTRON changes</option> | |
237 <option value="-no-upstream">Do not show UPSTREAM changes</option> | |
238 <option value="-no-utr">Do not show 5_PRIME_UTR or 3_PRIME_UTR changes</option> | |
239 </param> | |
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240 <conditional name="filter"> |
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241 <param name="specificEffects" type="select" label="Filter out specific Effects"> |
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242 <option value="no">No</option> |
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243 <option value="yes">Yes</option> |
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244 </param> |
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245 <when value="no"/> |
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246 <when value="yes"> |
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247 <param name="effects" type="select" display="checkboxes" multiple="true" label="Filter output: do not report these Effects"> |
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248 <option value="CDS">CDS (coding_sequence_variant) The variant hits a CDS. MODIFIER</option> |
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249 <option value="CHROMOSOME_LARGE_DELETION">CHROMOSOME_LARGE_DELETION (chromosome) A large parte (over 1%) of the chromosome was deleted. HIGH</option> |
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250 <option value="CODON_CHANGE">CODON_CHANGE (coding_sequence_variant) One or many codons are changed e.g.: An MNP of size multiple of 3 MODERATE</option> |
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251 <option value="CODON_INSERTION">CODON_INSERTION (inframe_insertion) One or many codons are inserted e.g.: An insert multiple of three in a codon boundary MODERATE</option> |
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252 <option value="CODON_CHANGE_PLUS_CODON_INSERTION">CODON_CHANGE_PLUS_CODON_INSERTION (disruptive_inframe_insertion) One codon is changed and one or many codons are inserted e.g.: An insert of size multiple of three, not at codon boundary MODERATE</option> |
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253 <option value="CODON_DELETION">CODON_DELETION (inframe_deletion) One or many codons are deleted e.g.: A deletion multiple of three at codon boundary MODERATE</option> |
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254 <option value="CODON_CHANGE_PLUS_CODON_DELETION">CODON_CHANGE_PLUS_CODON_DELETION (disruptive_inframe_deletion) One codon is changed and one or more codons are deleted e.g.: A deletion of size multiple of three, not at codon boundary MODERATE</option> |
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255 <option value="DOWNSTREAM">DOWNSTREAM (downstream_gene_variant) Downstream of a gene (default length: 5K bases) MODIFIER</option> |
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256 <option value="EXON">EXON (exon_variant) The variant hits an exon (from a non-coding transcript) or a retained intron. MODIFIER</option> |
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257 <option value="EXON_DELETED">EXON_DELETED (exon_loss_variant) A deletion removes the whole exon. HIGH</option> |
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258 <option value="FRAME_SHIFT">FRAME_SHIFT (frameshift_variant) Insertion or deletion causes a frame shift e.g.: An indel size is not multple of 3 HIGH</option> |
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259 <option value="GENE">GENE (gene_variant) The variant hits a gene. MODIFIER</option> |
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260 <option value="INTERGENIC">INTERGENIC (intergenic_region) The variant is in an intergenic region MODIFIER</option> |
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261 <option value="INTERGENIC_CONSERVED">INTERGENIC_CONSERVED (conserved_intergenic_variant) The variant is in a highly conserved intergenic region MODIFIER</option> |
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262 <option value="INTRAGENIC">INTRAGENIC (intragenic_variant) The variant hits a gene, but no transcripts within the gene MODIFIER</option> |
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263 <option value="INTRON">INTRON (intron_variant) Variant hits and intron. Technically, hits no exon in the transcript. MODIFIER</option> |
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264 <option value="INTRON_CONSERVED">INTRON_CONSERVED (conserved_intron_variant) The variant is in a highly conserved intronic region MODIFIER</option> |
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265 <option value="MICRO_RNA">MICRO_RNA (miRNA) Variant affects an miRNA MODIFIER</option> |
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266 <option value="NON_SYNONYMOUS_CODING">NON_SYNONYMOUS_CODING (missense_variant) Variant causes a codon that produces a different amino acid e.g.: Tgg/Cgg, W/R MODERATE</option> |
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267 <option value="NON_SYNONYMOUS_START">NON_SYNONYMOUS_START (initiator_codon_variant) Variant causes start codon to be mutated into another start codon (the new codon produces a different AA). e.g.: Atg/Ctg, M/L (ATG and CTG can be START codons) LOW</option> |
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268 <option value="NON_SYNONYMOUS_STOP">NON_SYNONYMOUS_STOP (stop_retained_variant) Variant causes stop codon to be mutated into another stop codon (the new codon produces a different AA). e.g.: Atg/Ctg, M/L (ATG and CTG can be START codons) LOW</option> |
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269 <option value="RARE_AMINO_ACID">RARE_AMINO_ACID (rare_amino_acid_variant) The variant hits a rare amino acid thus is likely to produce protein loss of function HIGH</option> |
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270 <option value="SPLICE_SITE_ACCEPTOR">SPLICE_SITE_ACCEPTOR (splice_acceptor_variant) The variant hits a splice acceptor site (defined as two bases before exon start, except for the first exon). HIGH</option> |
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271 <option value="SPLICE_SITE_DONOR">SPLICE_SITE_DONOR (splice_donor_variant) The variant hits a Splice donor site (defined as two bases after coding exon end, except for the last exon). HIGH</option> |
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272 <option value="SPLICE_SITE_REGION">SPLICE_SITE_REGION (splice_region_variant) A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron. LOW</option> |
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273 <option value="SPLICE_SITE_BRANCH">SPLICE_SITE_BRANCH (splice_region_variant) A varaint affective putative (Lariat) branch point, located in the intron. LOW</option> |
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274 <option value="SPLICE_SITE_BRANCH_U12">SPLICE_SITE_BRANCH_U12 (splice_region_variant) A varaint affective putative (Lariat) branch point from U12 splicing machinery, located in the intron. MODERATE</option> |
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275 <option value="STOP_LOST">STOP_LOST (stop_lost) Variant causes stop codon to be mutated into a non-stop codon e.g.: Tga/Cga, */R HIGH</option> |
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276 <option value="START_GAINED">START_GAINED (5_prime_UTR_premature start_codon_gain_variant) A variant in 5'UTR region produces a three base sequence that can be a START codon. LOW</option> |
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277 <option value="START_LOST">START_LOST (start_lost) Variant causes start codon to be mutated into a non-start codon. e.g.: aTg/aGg, M/R HIGH</option> |
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278 <option value="STOP_GAINED">STOP_GAINED (stop_gained) Variant causes a STOP codon e.g.: Cag/Tag, Q/* HIGH</option> |
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279 <option value="SYNONYMOUS_CODING">SYNONYMOUS_CODING (synonymous_variant) Variant causes a codon that produces the same amino acid e.g.: Ttg/Ctg, L/L LOW</option> |
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280 <option value="SYNONYMOUS_START">SYNONYMOUS_START (start_retained) Variant causes start codon to be mutated into another start codon. e.g.: Ttg/Ctg, L/L (TTG and CTG can be START codons) LOW</option> |
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281 <option value="SYNONYMOUS_STOP">SYNONYMOUS_STOP (stop_retained_variant) Variant causes stop codon to be mutated into another stop codon. e.g.: taA/taG, */* LOW</option> |
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282 <option value="TRANSCRIPT">TRANSCRIPT (transcript_variant) The variant hits a transcript. MODIFIER</option> |
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283 <option value="REGULATION">REGULATION (regulatory_region_variant) The variant hits a known regulatory feature (non-coding). MODIFIER</option> |
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284 <option value="UPSTREAM">UPSTREAM (upstream_gene_variant) Upstream of a gene (default length: 5K bases) MODIFIER</option> |
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285 <option value="UTR_3_PRIME">UTR_3_PRIME (3_prime_UTR_variant) Variant hits 3'UTR region MODIFIER</option> |
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286 <option value="UTR_3_DELETED">UTR_3_DELETED (3_prime_UTR_truncation + exon_loss) The variant deletes an exon which is in the 3'UTR of the transcript MODERATE</option> |
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287 <option value="UTR_5_PRIME">UTR_5_PRIME (5_prime_UTR_variant) Variant hits 5'UTR region MODIFIER</option> |
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288 <option value="UTR_5_DELETED">UTR_5_DELETED (5_prime_UTR_truncation + exon_loss_variant) The variant deletes an exon which is in the 5'UTR of the transcript MODERATE</option> |
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289 <option value="NEXT_PROT">NEXT_PROT (sequence_feature + exon_loss_variant) A 'NextProt' based annotation. Details are provided in the 'feature type' sub-field (ANN), or in the effect details (EFF). MODERATE </option> |
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290 |
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291 </param> |
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292 </when> |
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293 </conditional> |
0 | 294 |
295 <param name="offset" type="select" display="radio" optional="true" label="Chromosomal position"> | |
1 | 296 <option value="default" selected="true">Use default (based on input type)</option> |
0 | 297 <option value="-0">Force zero-based positions (both input and output)</option> |
298 <option value="-1">Force one-based positions (both input and output)</option> | |
299 </param> | |
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300 <param name="chr" type="text" label="Text to prepend to chromosome name"> |
0 | 301 <help> |
302 By default SnpEff simplifies all chromosome names. For instance 'chr1' is just '1'. | |
303 You can prepend any string you want to the chromosome name. | |
304 </help> | |
305 <validator type="regex" message="No whitespace allowed">^\S*$</validator> | |
306 </param> | |
307 <param name="generate_stats" type="boolean" truevalue="" falsevalue="-noStats" checked="true" label="Produce Summary Stats"/> | |
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308 <param name="noLog" type="boolean" truevalue="-noLog" falsevalue="" checked="true" label="Suppress reporting usage statistics to server"/> |
0 | 309 </inputs> |
310 <outputs> | |
311 <data format="vcf" name="snpeff_output" > | |
312 <change_format> | |
1 | 313 <when input="outputConditional.outputFormat" value="bed" format="bed" /> |
314 <when input="outputConditional.outputFormat" value="bedAnn" format="bed" /> | |
0 | 315 </change_format> |
316 </data> | |
1 | 317 <data format="html" name="statsFile" label="${tool.name} on ${on_string} - stats"> |
0 | 318 <filter>generate_stats == True</filter> |
319 </data> | |
320 </outputs> | |
321 <tests> | |
322 <!-- Check that an effect was added in out VCF --> | |
323 <!-- Check for a HTML header indicating that this was successful --> | |
324 <!-- | |
325 <output name="statsFile"> | |
326 <assert_contents> | |
327 <has_text text="SnpEff: Variant analysis" /> | |
328 </assert_contents> | |
329 </output> | |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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330 --> |
0 | 331 <!-- Setting filterOut throws exception in twilltestcase.py |
332 <test> | |
333 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> | |
334 <param name="inputFormat" value="vcf"/> | |
335 <param name="outputFormat" value="vcf"/> | |
336 <param name="genomeSrc" value="named"/> | |
337 <param name="genome_version" value="testCase"/> | |
338 <param name="udLength" value="0"/> | |
339 <param name="generate_stats" value="False"/> | |
340 <param name="filterOut" value="+-no-upstream"/> | |
341 <output name="snpeff_output"> | |
342 <assert_contents> | |
343 <has_text text="EFF=" /> | |
344 </assert_contents> | |
345 </output> | |
346 </test> | |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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347 --> |
0 | 348 |
349 <test> | |
350 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> | |
351 <param name="inputFormat" value="vcf"/> | |
352 <param name="outputFormat" value="vcf"/> | |
353 <param name="genomeSrc" value="named"/> | |
354 <param name="genome_version" value="testCase"/> | |
355 <param name="udLength" value="0"/> | |
356 <!-- | |
357 <param name="filterOut" value=""/> | |
358 --> | |
359 <param name="generate_stats" value="False"/> | |
360 <output name="snpeff_output"> | |
361 <assert_contents> | |
362 <!-- Check that deleletions were evaluated --> | |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 00efb7078cfb3664ef048925d0a6b02d8578c27d
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363 <has_text_matching expression="Y\t59030478\t.*intergenic_region" /> |
0 | 364 <!-- Check that insertion on last line was NOT evaluated --> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 00efb7078cfb3664ef048925d0a6b02d8578c27d
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365 <has_text_matching expression="Y\t59032947\t.*\tGT" /> |
0 | 366 </assert_contents> |
367 </output> | |
368 </test> | |
369 | |
370 <!-- Check that NO UPSTREAM effect was added --> | |
371 <!-- Setting filterOut throws exception in twilltestcase.py | |
372 <test> | |
373 <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> | |
374 <param name="inputFormat" value="vcf"/> | |
375 <param name="outputFormat" value="vcf"/> | |
376 <param name="genomeSrc" value="named"/> | |
377 <param name="genome_version" value="testCase"/> | |
378 <param name="udLength" value="0"/> | |
379 <param name="filterOut" value="+-no-upstream"/> | |
380 <param name="generate_stats" value="False"/> | |
381 <output name="snpeff_output"> | |
382 <assert_contents> | |
383 <not_has_text text="UPSTREAM" /> | |
384 </assert_contents> | |
385 </output> | |
386 </test> | |
387 --> | |
388 | |
389 </tests> | |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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390 <help><![CDATA[ |
0 | 391 |
392 This tool calculate the effect of variants (SNPs/MNPs/Insertions) and deletions. | |
393 | |
394 @EXTERNAL_DOCUMENTATION@ | |
395 | |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpeff commit 21b46ae2c90ba7e569b2b3a9eaf938f8dedb2c31
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396 ]]> |
0 | 397 </help> |
1 | 398 <expand macro="citations" /> |
0 | 399 </tool> |
400 |