Mercurial > repos > devteam > variant_annotator
comparison variant_annotator.xml @ 0:8498a337a2a2 draft default tip
Imported from capsule None
author | devteam |
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date | Tue, 01 Apr 2014 09:11:57 -0400 |
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-1:000000000000 | 0:8498a337a2a2 |
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1 <tool id="gatk_variant_annotator" name="Variant Annotator" version="0.0.5"> | |
2 <description></description> | |
3 <requirements> | |
4 <requirement type="package" version="1.4">gatk</requirement> | |
5 <requirement type="package" version="0.1.18">samtools</requirement> | |
6 </requirements> | |
7 <macros> | |
8 <import>gatk_macros.xml</import> | |
9 </macros> | |
10 <command interpreter="python">gatk_wrapper.py | |
11 --max_jvm_heap_fraction "1" | |
12 --stdout "${output_log}" | |
13 #if str( $reference_source.input_bam ) != "None": | |
14 -d "-I" "${reference_source.input_bam}" "${reference_source.input_bam.ext}" "gatk_input" | |
15 #if str( $reference_source.input_bam.metadata.bam_index ) != "None": | |
16 -d "" "${reference_source.input_bam.metadata.bam_index}" "bam_index" "gatk_input" ##hardcode galaxy ext type as bam_index | |
17 #end if | |
18 #end if | |
19 -d "--variant" "${reference_source.input_variant}" "${reference_source.input_variant.ext}" "input_variant" | |
20 -p 'java | |
21 -jar "\$JAVA_JAR_PATH/GenomeAnalysisTK.jar" | |
22 ##--list | |
23 -T "VariantAnnotator" | |
24 ##--num_threads 4 ##hard coded, for now | |
25 -et "NO_ET" ##ET no phone home | |
26 ##-log "${output_log}" ##don't use this to log to file, instead directly capture stdout | |
27 #if $reference_source.reference_source_selector != "history": | |
28 -R "${reference_source.ref_file.fields.path}" | |
29 #end if | |
30 -o "${output_vcf}" | |
31 #if str( $annotations_type.annotations_type_selector ) == "use_all_annotations": | |
32 --useAllAnnotations | |
33 #else: | |
34 #if $annotations_type.annotations: | |
35 #for $annotation in str( $annotations_type.annotations.fields.gatk_value ).split( ',' ): | |
36 --annotation "${annotation}" | |
37 #end for | |
38 #end if | |
39 #end if | |
40 #if $exclude_annotations: | |
41 #for $annotation in str( $exclude_annotations.fields.gatk_value ).split( ',' ): | |
42 --excludeAnnotation "${annotation}" | |
43 #end for | |
44 #end if | |
45 #for $additional_annotation in $additional_annotations: | |
46 --annotation "${additional_annotation.additional_annotation_name}" | |
47 #end for | |
48 ' | |
49 #if $reference_source.input_variant_bti: | |
50 -d "--intervals" "${reference_source.input_variant}" "${reference_source.input_variant.ext}" "input_variant_bti" | |
51 #end if | |
52 | |
53 #for $rod_binding in $comp_rod_bind: | |
54 -d "--comp:${rod_binding.comp_rod_name},%(file_type)s" "${rod_binding.comp_input_rod}" "${rod_binding.comp_input_rod.ext}" "input_comp_${rod_binding.comp_rod_name}" | |
55 #end for | |
56 | |
57 #if str( $dbsnp_rod_bind_type.dbsnp_rod_bind_type_selector ) == 'set_dbsnp': | |
58 -d "--dbsnp:${dbsnp_rod_bind_type.dbsnp_rod_name},%(file_type)s" "${dbsnp_rod_bind_type.dbsnp_input_rod}" "${dbsnp_rod_bind_type.dbsnp_input_rod.ext}" "input_dbsnp_${dbsnp_rod_bind_type.dbsnp_rod_name}" | |
59 #end if | |
60 | |
61 | |
62 #for $rod_binding in $resource_rod_bind: | |
63 -d "--resource:${rod_binding.resource_rod_name},%(file_type)s" "${rod_binding.resource_input_rod}" "${rod_binding.resource_input_rod.ext}" "input_resource_${rod_binding.resource_rod_name}" | |
64 #end for | |
65 | |
66 #if str( $snpEff_rod_bind_type.snpEff_rod_bind_type_selector ) == 'set_snpEff': | |
67 -p '--annotation "SnpEff"' | |
68 -d "--snpEffFile:${snpEff_rod_bind_type.snpEff_rod_name},%(file_type)s" "${snpEff_rod_bind_type.snpEff_input_rod}" "${snpEff_rod_bind_type.snpEff_input_rod.ext}" "input_snpEff_${snpEff_rod_bind_type.snpEff_rod_name}" | |
69 #else: | |
70 -p '--excludeAnnotation "SnpEff"' | |
71 #end if | |
72 | |
73 #for $expression in $expressions: | |
74 -p '--expression "${expression.expression}"' | |
75 #end for | |
76 | |
77 #include source=$standard_gatk_options# | |
78 | |
79 -p ' | |
80 #if str( $annotation_group ) != "None": | |
81 #for $group in str( $annotation_group ).split( ',' ): | |
82 --group "${group}" | |
83 #end for | |
84 #end if | |
85 #if str( $family_string ) != "": | |
86 --family_string "${family_string}" | |
87 #end if | |
88 --MendelViolationGenotypeQualityThreshold "${mendel_violation_genotype_quality_threshold}" | |
89 ' | |
90 </command> | |
91 <inputs> | |
92 <conditional name="reference_source"> | |
93 <expand macro="reference_source_selector_param" /> | |
94 <when value="cached"> | |
95 <param name="input_variant" type="data" format="vcf" label="Variant file to annotate" help="-V,--variant &lt;variant&gt;"/> | |
96 <param name="input_variant_bti" type="boolean" truevalue="-BTI variant" falsevalue="" label="Increase efficiency for small variant files." help="--intervals"/> | |
97 <param name="input_bam" type="data" format="bam" label="BAM file" optional="True" help="Not needed for all annotations. (-I,--input_file &lt;input_file&gt;)" > | |
98 <validator type="unspecified_build" /> | |
99 <validator type="dataset_metadata_in_data_table" table_name="gatk_picard_indexes" metadata_name="dbkey" metadata_column="dbkey" message="Sequences are not currently available for the specified build." /> <!-- fixme!!! this needs to be a select --> | |
100 </param> | |
101 <param name="ref_file" type="select" label="Using reference genome" help="-R,--reference_sequence &lt;reference_sequence&gt;"> | |
102 <options from_data_table="gatk_picard_indexes"> | |
103 <filter type="data_meta" key="dbkey" ref="input_variant" column="dbkey"/> | |
104 </options> | |
105 <validator type="no_options" message="A built-in reference genome is not available for the build associated with the selected input file"/> | |
106 </param> | |
107 </when> | |
108 <when value="history"> <!-- FIX ME!!!! --> | |
109 <param name="input_variant" type="data" format="vcf" label="Variant file to annotate" help="-V,--variant &lt;variant&gt;"/> | |
110 <param name="input_variant_bti" type="boolean" truevalue="-BTI variant" falsevalue="" label="Increase efficiency for small variant files." help="--intervals"/> | |
111 <param name="input_bam" type="data" format="bam" label="BAM file" optional="True" help="Not needed for all annotations. (-I,--input_file &lt;input_file&gt;)" > | |
112 </param> | |
113 <param name="ref_file" type="data" format="fasta" label="Using reference file" help="-R,--reference_sequence &lt;reference_sequence&gt;" /> | |
114 </when> | |
115 </conditional> | |
116 <conditional name="annotations_type"> | |
117 <param name="annotations_type_selector" type="select" label="Use all possible annotations"> | |
118 <option value="use_all_annotations">Use all</option> | |
119 <option value="choose" selected="True">Use selected</option> | |
120 </param> | |
121 <when value="use_all_annotations"> | |
122 <!-- no extra options here --> | |
123 </when> | |
124 <when value="choose"> | |
125 <param name="annotations" type="select" multiple="True" display="checkboxes" label="Annotations to apply" help="-A,--annotation &lt;annotation&gt;" > | |
126 <!-- load the available annotations from an external configuration file, since additional ones can be added to local installs --> | |
127 <options from_data_table="gatk_annotations"> | |
128 <filter type="multiple_splitter" column="tools_valid_for" separator=","/> | |
129 <filter type="static_value" value="VariantAnnotator" column="tools_valid_for"/> | |
130 </options> | |
131 </param> | |
132 </when> | |
133 </conditional> | |
134 | |
135 <repeat name="additional_annotations" title="Additional annotation" help="-A,--annotation &lt;annotation&gt;"> | |
136 <param name="additional_annotation_name" type="text" value="" label="Annotation name" /> | |
137 </repeat> | |
138 | |
139 <repeat name="comp_rod_bind" title="Binding for reference-ordered comparison data" help="-comp,--comp &lt;comp&gt;"> | |
140 <param name="comp_input_rod" type="data" format="vcf" label="ROD file" /> | |
141 <param name="comp_rod_name" type="text" value="Unnamed" label="ROD Name"/> | |
142 </repeat> | |
143 | |
144 <conditional name="dbsnp_rod_bind_type"> | |
145 <param name="dbsnp_rod_bind_type_selector" type="select" label="Provide a dbSNP reference-ordered data file" help="-D,--dbsnp &lt;dbsnp&gt;"> | |
146 <option value="set_dbsnp" selected="True">Set dbSNP</option> | |
147 <option value="exclude_dbsnp">Don't set dbSNP</option> | |
148 </param> | |
149 <when value="exclude_dbsnp"> | |
150 <!-- Do nothing here --> | |
151 </when> | |
152 <when value="set_dbsnp"> | |
153 <param name="dbsnp_input_rod" type="data" format="vcf" label="ROD file" /> | |
154 <param name="dbsnp_rod_name" type="hidden" value="dbsnp" label="ROD Name"/> | |
155 </when> | |
156 </conditional> | |
157 | |
158 <repeat name="resource_rod_bind" title="Binding for reference-ordered resource data" help="-resource,--resource &lt;resource&gt;"> | |
159 <param name="resource_input_rod" type="data" format="vcf" label="ROD file" /> | |
160 <param name="resource_rod_name" type="text" value="Unnamed" label="ROD Name"/> | |
161 </repeat> | |
162 | |
163 <conditional name="snpEff_rod_bind_type"> | |
164 <param name="snpEff_rod_bind_type_selector" type="select" label="Provide a snpEff reference-ordered data file" help="-snpEffFile,--snpEffFile &lt;snpEffFile&gt;"> | |
165 <option value="set_snpEff">Set snpEff</option> | |
166 <option value="exclude_snpEff" selected="True">Don't set snpEff</option> | |
167 </param> | |
168 <when value="exclude_snpEff"> | |
169 <!-- Do nothing here --> | |
170 </when> | |
171 <when value="set_snpEff"> | |
172 <param name="snpEff_input_rod" type="data" format="vcf" label="ROD file" /> | |
173 <param name="snpEff_rod_name" type="hidden" value="snpEff" label="ROD Name"/> | |
174 </when> | |
175 </conditional> | |
176 | |
177 <repeat name="expressions" title="Expression" help="-E,--expression &lt;expression&gt;"> | |
178 <param name="expression" type="text" value="" label="Expression"/> | |
179 </repeat> | |
180 | |
181 <expand macro="gatk_param_type_conditional" /> | |
182 | |
183 <param name="annotation_group" type="select" multiple="True" display="checkboxes" label="annotation interfaces/groups to apply to variant calls" help="-G,--group &lt;group&gt;"> | |
184 <option value="RodRequiringAnnotation">RodRequiringAnnotation</option> | |
185 <option value="Standard">Standard</option> | |
186 <option value="Experimental">Experimental</option> | |
187 <option value="WorkInProgress">WorkInProgress</option> | |
188 <option value="RankSumTest">RankSumTest</option> | |
189 </param> | |
190 <param name="family_string" type="text" value="" label="Family String" help="--family_string"/> | |
191 <param name="mendel_violation_genotype_quality_threshold" type="float" value="0.0" label="genotype quality treshold in order to annotate mendelian violation ratio." help="-mvq,--MendelViolationGenotypeQualityThreshold &lt;MendelViolationGenotypeQualityThreshold&gt;"/> | |
192 <param name="exclude_annotations" type="select" multiple="True" display="checkboxes" label="Annotations to exclude" help="-XA,--excludeAnnotation &lt;excludeAnnotation&gt;" > | |
193 <!-- load the available annotations from an external configuration file, since additional ones can be added to local installs --> | |
194 <options from_data_table="gatk_annotations"> | |
195 <filter type="multiple_splitter" column="tools_valid_for" separator=","/> | |
196 <filter type="static_value" value="VariantAnnotator" column="tools_valid_for"/> | |
197 </options> | |
198 </param> | |
199 | |
200 </inputs> | |
201 <outputs> | |
202 <data format="vcf" name="output_vcf" label="${tool.name} on ${on_string} (Variant File)" /> | |
203 <data format="txt" name="output_log" label="${tool.name} on ${on_string} (log)" /> | |
204 </outputs> | |
205 <tests> | |
206 <test> | |
207 <param name="reference_source_selector" value="history" /> | |
208 <param name="ref_file" value="phiX.fasta" ftype="fasta" /> | |
209 <param name="input_bam" value="gatk/gatk_table_recalibration/gatk_table_recalibration_out_1.bam" ftype="bam" /> | |
210 <param name="input_variant" value="gatk/gatk_unified_genotyper/gatk_unified_genotyper_out_1.vcf" ftype="vcf" /> | |
211 <param name="input_variant_bti" /> | |
212 <param name="annotations_type_selector" value="choose" /> | |
213 <param name="annotations" value="AlleleBalance,BaseQualityRankSumTest,DepthOfCoverage,HomopolymerRun,MappingQualityRankSumTest,MappingQualityZero,QualByDepth,RMSMappingQuality,SpanningDeletions,HaplotypeScore" /> | |
214 <param name="additional_annotations" value="0" /> | |
215 <param name="dbsnp_rod_bind_type_selector" value="set_dbsnp" /> | |
216 <param name="dbsnp_input_rod" value="gatk/fake_phiX_variant_locations.vcf" ftype="vcf" /> | |
217 <param name="snpEff_rod_bind_type_selector" value="exclude_snpEff" /> | |
218 <param name="gatk_param_type_selector" value="basic" /> | |
219 <output name="output_vcf" file="gatk/gatk_variant_annotator/gatk_variant_annotator_out_1.vcf" lines_diff="4" /> | |
220 <output name="output_log" file="gatk/gatk_variant_annotator/gatk_variant_annotator_out_1.log.contains" compare="contains" /> | |
221 <param name="comp_rod_bind" value="0" /> | |
222 <param name="resource_rod_bind" value="0" /> | |
223 <param name="expressions" value="0" /> | |
224 <!-- <param name="annotation_group" /> --> | |
225 </test> | |
226 </tests> | |
227 <help> | |
228 **What it does** | |
229 | |
230 Annotates variant calls with context information. Users can specify which of the available annotations to use. | |
231 | |
232 For more information on using the VariantAnnotator, see this `tool specific page <http://www.broadinstitute.org/gsa/wiki/index.php/VariantAnnotator>`_. | |
233 | |
234 To learn about best practices for variant detection using GATK, see this `overview <http://www.broadinstitute.org/gsa/wiki/index.php/Best_Practice_Variant_Detection_with_the_GATK_v3>`_. | |
235 | |
236 If you encounter errors, please view the `GATK FAQ <http://www.broadinstitute.org/gsa/wiki/index.php/Frequently_Asked_Questions>`_. | |
237 | |
238 ------ | |
239 | |
240 | |
241 **Inputs** | |
242 | |
243 GenomeAnalysisTK: VariantAnnotator accepts a variant input file. | |
244 | |
245 | |
246 **Outputs** | |
247 | |
248 The output is in VCF format. | |
249 | |
250 | |
251 Go `here <http://www.broadinstitute.org/gsa/wiki/index.php/Input_files_for_the_GATK>`_ for details on GATK file formats. | |
252 | |
253 ------- | |
254 | |
255 **Settings**:: | |
256 | |
257 | |
258 sampleName The sample (NA-ID) corresponding to the variant input (for non-VCF input only) | |
259 annotation One or more specific annotations to apply to variant calls | |
260 group One or more classes/groups of annotations to apply to variant calls | |
261 expression One or more specific expressions to apply to variant calls; see documentation for more details | |
262 useAllAnnotations Use all possible annotations (not for the faint of heart) | |
263 | |
264 @CITATION_SECTION@ | |
265 </help> | |
266 </tool> |