Mercurial > repos > devteam > table_recalibration
comparison variant_recalibrator.xml @ 0:dfd818e0c4ac draft
Imported from capsule None
author | devteam |
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date | Tue, 01 Apr 2014 09:12:12 -0400 |
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1 <tool id="gatk_variant_recalibrator" name="Variant Recalibrator" version="0.0.4"> | |
2 <description></description> | |
3 <requirements> | |
4 <requirement type="package" version="1.4">gatk</requirement> | |
5 </requirements> | |
6 <macros> | |
7 <import>gatk_macros.xml</import> | |
8 </macros> | |
9 <command interpreter="python">gatk_wrapper.py | |
10 --max_jvm_heap_fraction "1" | |
11 --stdout "${output_log}" | |
12 #for $var_count, $variant in enumerate( $reference_source.variants ): | |
13 -d "--input:input_${var_count},%(file_type)s" "${variant.input_variants}" "${variant.input_variants.ext}" "input_variants_${var_count}" | |
14 #end for | |
15 -p 'java | |
16 -jar "\$JAVA_JAR_PATH/GenomeAnalysisTK.jar" | |
17 -T "VariantRecalibrator" | |
18 --num_threads \${GALAXY_SLOTS:-4} | |
19 -et "NO_ET" ##ET no phone home | |
20 ##-log "${output_log}" ##don't use this to log to file, instead directly capture stdout | |
21 #if $reference_source.reference_source_selector != "history": | |
22 -R "${reference_source.ref_file.fields.path}" | |
23 #end if | |
24 --recal_file "${output_recal}" | |
25 --tranches_file "${output_tranches}" | |
26 --rscript_file "${output_rscript}" | |
27 ' | |
28 | |
29 #set $rod_binding_names = dict() | |
30 #for $rod_binding in $rod_bind: | |
31 #if str( $rod_binding.rod_bind_type.rod_bind_type_selector ) == 'custom': | |
32 #set $rod_bind_name = $rod_binding.rod_bind_type.custom_rod_name | |
33 #elif str( $rod_binding.rod_bind_type.rod_bind_type_selector ) == 'comp': | |
34 #set $rod_bind_name = "comp" + $rod_binding.rod_bind_type.custom_rod_name | |
35 #else | |
36 #set $rod_bind_name = $rod_binding.rod_bind_type.rod_bind_type_selector | |
37 #end if | |
38 #set $rod_binding_names[$rod_bind_name] = $rod_binding_names.get( $rod_bind_name, -1 ) + 1 | |
39 #if $rod_binding.rod_bind_type.rod_training_type.rod_training_type_selector == "not_training_truth_known": | |
40 -d "--resource:${rod_bind_name},%(file_type)s" "${rod_binding.rod_bind_type.input_rod}" "${rod_binding.rod_bind_type.input_rod.ext}" "input_${rod_bind_name}_${rod_binding_names[$rod_bind_name]}" | |
41 #else: | |
42 -d "--resource:${rod_bind_name},%(file_type)s,known=${rod_binding.rod_bind_type.rod_training_type.known},training=${rod_binding.rod_bind_type.rod_training_type.training},truth=${rod_binding.rod_bind_type.rod_training_type.truth},bad=${rod_binding.rod_bind_type.rod_training_type.bad},prior=${rod_binding.rod_bind_type.rod_training_type.prior}" "${rod_binding.rod_bind_type.input_rod}" "${rod_binding.rod_bind_type.input_rod.ext}" "input_${rod_bind_name}_${rod_binding_names[$rod_bind_name]}" | |
43 #end if | |
44 #end for | |
45 | |
46 #include source=$standard_gatk_options# | |
47 | |
48 ##start analysis specific options | |
49 -p ' | |
50 #if str( $annotations ) != "None": | |
51 #for $annotation in str( $annotations.fields.gatk_value ).split( ',' ): | |
52 --use_annotation "${annotation}" | |
53 #end for | |
54 #end if | |
55 #for $additional_annotation in $additional_annotations: | |
56 --use_annotation "${additional_annotation.additional_annotation_name}" | |
57 #end for | |
58 --mode "${mode}" | |
59 ' | |
60 | |
61 #if $analysis_param_type.analysis_param_type_selector == "advanced": | |
62 -p ' | |
63 --maxGaussians "${analysis_param_type.max_gaussians}" | |
64 --maxIterations "${analysis_param_type.max_iterations}" | |
65 --numKMeans "${analysis_param_type.num_k_means}" | |
66 --stdThreshold "${analysis_param_type.std_threshold}" | |
67 --qualThreshold "${analysis_param_type.qual_threshold}" | |
68 --shrinkage "${analysis_param_type.shrinkage}" | |
69 --dirichlet "${analysis_param_type.dirichlet}" | |
70 --priorCounts "${analysis_param_type.prior_counts}" | |
71 #if str( $analysis_param_type.bad_variant_selector.bad_variant_selector_type ) == 'percent': | |
72 --percentBadVariants "${analysis_param_type.bad_variant_selector.percent_bad_variants}" | |
73 #else: | |
74 --minNumBadVariants "${analysis_param_type.bad_variant_selector.min_num_bad_variants}" | |
75 #end if | |
76 --target_titv "${analysis_param_type.target_titv}" | |
77 #for $tranche in [ $tranche.strip() for $tranche in str( $analysis_param_type.ts_tranche ).split( ',' ) if $tranche.strip() ] | |
78 --TStranche "${tranche}" | |
79 #end for | |
80 #for $ignore_filter in $analysis_param_type.ignore_filters: | |
81 #set $ignore_filter_name = str( $ignore_filter.ignore_filter_type.ignore_filter_type_selector ) | |
82 #if $ignore_filter_name == "custom": | |
83 #set $ignore_filter_name = str( $ignore_filter.ignore_filter_type.filter_name ) | |
84 #end if | |
85 --ignore_filter "${ignore_filter_name}" | |
86 #end for | |
87 --ts_filter_level "${analysis_param_type.ts_filter_level}" | |
88 ' | |
89 #end if | |
90 | |
91 | |
92 && | |
93 mv "${output_rscript}.pdf" "${output_tranches_pdf}" | |
94 | |
95 </command> | |
96 <inputs> | |
97 <conditional name="reference_source"> | |
98 <expand macro="reference_source_selector_param" /> | |
99 <when value="cached"> | |
100 <repeat name="variants" title="Variant" min="1" help="-input,--input &lt;input&gt;"> | |
101 <param name="input_variants" type="data" format="vcf" label="Variant file to recalibrate" /> | |
102 </repeat> | |
103 <param name="ref_file" type="select" label="Using reference genome" help="-R,--reference_sequence &lt;reference_sequence&gt;"> | |
104 <options from_data_table="gatk_picard_indexes"> | |
105 <!-- <filter type="data_meta" key="dbkey" ref="variants[0].input_variants" column="dbkey"/> --> | |
106 </options> | |
107 <validator type="no_options" message="A built-in reference genome is not available for the build associated with the selected input file"/> | |
108 </param> | |
109 </when> | |
110 <when value="history"> <!-- FIX ME!!!! --> | |
111 <repeat name="variants" title="Variant" min="1" help="-input,--input &lt;input&gt;"> | |
112 <param name="input_variants" type="data" format="vcf" label="Variant file to recalibrate" /> | |
113 </repeat> | |
114 <param name="ref_file" type="data" format="fasta" label="Using reference file" help="-R,--reference_sequence &lt;reference_sequence&gt;" /> | |
115 </when> | |
116 </conditional> | |
117 | |
118 <repeat name="rod_bind" title="Binding for reference-ordered data" help="-resource,--resource &lt;resource&gt;"> | |
119 <conditional name="rod_bind_type"> | |
120 <param name="rod_bind_type_selector" type="select" label="Binding Type"> | |
121 <option value="dbsnp" selected="True">dbSNP</option> | |
122 <option value="variant">Variants</option> | |
123 <option value="snps">SNPs</option> | |
124 <option value="indels">INDELs</option> | |
125 <option value="hapmap">HapMap</option> | |
126 <option value="omni">OMNI</option> | |
127 <option value="mask">Mask</option> | |
128 <option value="custom">Custom</option> | |
129 <option value="comp">Comp</option> | |
130 </param> | |
131 <when value="variant"> | |
132 <param name="input_rod" type="data" format="vcf" label="Variant ROD file" /> | |
133 <conditional name="rod_training_type"> | |
134 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
135 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
136 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
137 </param> | |
138 <when value="not_training_truth_known"> | |
139 <!-- do nothing here --> | |
140 </when> | |
141 <when value="is_training_truth_known"> | |
142 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
143 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
144 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
145 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
146 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
147 </when> | |
148 </conditional> | |
149 </when> | |
150 <when value="comp"> | |
151 <param name="input_rod" type="data" format="vcf" label="ROD file" /> | |
152 <param name="custom_rod_name" type="text" value="Unnamed" label="ROD Name"/> | |
153 <conditional name="rod_training_type"> | |
154 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
155 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
156 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
157 </param> | |
158 <when value="not_training_truth_known"> | |
159 <!-- do nothing here --> | |
160 </when> | |
161 <when value="is_training_truth_known"> | |
162 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
163 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
164 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
165 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
166 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
167 </when> | |
168 </conditional> | |
169 </when> | |
170 <when value="mask"> | |
171 <param name="input_rod" type="data" format="vcf" label="ROD file" /> | |
172 <conditional name="rod_training_type"> | |
173 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
174 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
175 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
176 </param> | |
177 <when value="not_training_truth_known"> | |
178 <!-- do nothing here --> | |
179 </when> | |
180 <when value="is_training_truth_known"> | |
181 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
182 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
183 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
184 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
185 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
186 </when> | |
187 </conditional> | |
188 </when> | |
189 <when value="dbsnp"> | |
190 <param name="input_rod" type="data" format="vcf" label="ROD file" /> | |
191 <conditional name="rod_training_type"> | |
192 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
193 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
194 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
195 </param> | |
196 <when value="not_training_truth_known"> | |
197 <!-- do nothing here --> | |
198 </when> | |
199 <when value="is_training_truth_known"> | |
200 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
201 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
202 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
203 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
204 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
205 </when> | |
206 </conditional> | |
207 </when> | |
208 <when value="snps"> | |
209 <param name="input_rod" type="data" format="vcf" label="ROD file" /> | |
210 <conditional name="rod_training_type"> | |
211 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
212 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
213 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
214 </param> | |
215 <when value="not_training_truth_known"> | |
216 <!-- do nothing here --> | |
217 </when> | |
218 <when value="is_training_truth_known"> | |
219 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
220 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
221 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
222 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
223 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
224 </when> | |
225 </conditional> | |
226 </when> | |
227 <when value="hapmap"> | |
228 <param name="input_rod" type="data" format="vcf" label="ROD file" /> | |
229 <conditional name="rod_training_type"> | |
230 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
231 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
232 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
233 </param> | |
234 <when value="not_training_truth_known"> | |
235 <!-- do nothing here --> | |
236 </when> | |
237 <when value="is_training_truth_known"> | |
238 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
239 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
240 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
241 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
242 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
243 </when> | |
244 </conditional> | |
245 </when> | |
246 <when value="omni"> | |
247 <param name="input_rod" type="data" format="vcf" label="ROD file" /> | |
248 <conditional name="rod_training_type"> | |
249 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
250 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
251 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
252 </param> | |
253 <when value="not_training_truth_known"> | |
254 <!-- do nothing here --> | |
255 </when> | |
256 <when value="is_training_truth_known"> | |
257 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
258 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
259 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
260 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
261 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
262 </when> | |
263 </conditional> | |
264 </when> | |
265 <when value="indels"> | |
266 <param name="input_rod" type="data" format="vcf" label="ROD file" /> | |
267 <conditional name="rod_training_type"> | |
268 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
269 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
270 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
271 </param> | |
272 <when value="not_training_truth_known"> | |
273 <!-- do nothing here --> | |
274 </when> | |
275 <when value="is_training_truth_known"> | |
276 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
277 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
278 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
279 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
280 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
281 </when> | |
282 </conditional> | |
283 </when> | |
284 <when value="custom"> | |
285 <param name="custom_rod_name" type="text" value="Unknown" label="ROD Name"/> | |
286 <param name="input_rod" type="data" format="vcf" label="ROD file" /> | |
287 <conditional name="rod_training_type"> | |
288 <param name="rod_training_type_selector" type="select" label="Use as training/truth/known sites"> | |
289 <option value="is_training_truth_known">Set training/truth/known sites</option> | |
290 <option value="not_training_truth_known" selected="True">Don't Set options</option> | |
291 </param> | |
292 <when value="not_training_truth_known"> | |
293 <!-- do nothing here --> | |
294 </when> | |
295 <when value="is_training_truth_known"> | |
296 <param name="known" type="boolean" label="Is Known Site" truevalue="true" falsevalue="false"/> | |
297 <param name="training" type="boolean" label="Is Training Site" truevalue="true" falsevalue="false"/> | |
298 <param name="truth" type="boolean" label="Is Truth Site" truevalue="true" falsevalue="false"/> | |
299 <param name="bad" type="boolean" label="Is Bad Site" truevalue="true" falsevalue="false"/> | |
300 <param name="prior" type="float" label="prior probability of being true" value="12.0"/> | |
301 </when> | |
302 </conditional> | |
303 </when> | |
304 </conditional> | |
305 </repeat> | |
306 | |
307 <param name="annotations" type="select" multiple="True" display="checkboxes" label="annotations which should used for calculations" help="-an,--use_annotation &lt;use_annotation&gt;"> | |
308 <!-- load the available annotations from an external configuration file, since additional ones can be added to local installs --> | |
309 <options from_data_table="gatk_annotations"> | |
310 <filter type="multiple_splitter" column="tools_valid_for" separator=","/> | |
311 <filter type="static_value" value="VariantRecalibrator" column="tools_valid_for"/> | |
312 </options> | |
313 </param> | |
314 | |
315 <repeat name="additional_annotations" title="Additional annotation" help="-an,--use_annotation &lt;use_annotation&gt;"> | |
316 <param name="additional_annotation_name" type="text" value="" label="Annotation name" /> | |
317 </repeat> | |
318 | |
319 <param name="mode" type="select" label="Recalibration mode" help="-mode,--mode &lt;mode&gt;"> | |
320 <option value="SNP" selected="True">SNP</option> | |
321 <option value="INDEL">INDEL</option> | |
322 <option value="BOTH">BOTH</option> | |
323 </param> | |
324 | |
325 <expand macro="gatk_param_type_conditional" /> | |
326 | |
327 <expand macro="analysis_type_conditional"> | |
328 <param name="max_gaussians" type="integer" label="maximum number of Gaussians to try during variational Bayes Algorithm" value="10" help="-mG,--maxGaussians &lt;maxGaussians&gt;"/> | |
329 <param name="max_iterations" type="integer" label="maximum number of maximum number of VBEM iterations to be performed in variational Bayes Algorithm" value="100" help="-mI,--maxIterations &lt;maxIterations&gt;"/> | |
330 <param name="num_k_means" type="integer" label="number of k-means iterations to perform in order to initialize the means of the Gaussians in the Gaussian mixture model" value="30" help="-nKM,--numKMeans &lt;numKMeans&gt;"/> | |
331 <param name="std_threshold" type="float" label="If a variant has annotations more than -std standard deviations away from mean then don't use it for building the Gaussian mixture model." value="8.0" help="-std,--stdThreshold &lt;stdThreshold&gt;"/> | |
332 <param name="qual_threshold" type="float" label="If a known variant has raw QUAL value less than -qual then don't use it for building the Gaussian mixture model." value="80.0" help="-qual,--qualThreshold &lt;qualThreshold&gt;"/> | |
333 <param name="shrinkage" type="float" label="shrinkage parameter in variational Bayes algorithm" value="1.0" help="-shrinkage,--shrinkage &lt;shrinkage&gt;"/> | |
334 <param name="dirichlet" type="float" label="dirichlet parameter in variational Bayes algorithm" value="0.001" help="-dirichlet,--dirichlet &lt;dirichlet&gt;"/> | |
335 <param name="prior_counts" type="float" label="number of prior counts to use in variational Bayes algorithm" value="20.0" help="-priorCounts,--priorCounts &lt;priorCounts&gt;"/> | |
336 <conditional name="bad_variant_selector"> | |
337 <param name="bad_variant_selector_type" type="select" label="How to specify bad variants"> | |
338 <option value="percent" selected="True">Percent</option> | |
339 <option value="min_num">Number</option> | |
340 </param> | |
341 <when value="percent"> | |
342 <param name="percent_bad_variants" type="float" label="percentage of the worst scoring variants to use when building the Gaussian mixture model of bad variants. 0.07 means bottom 7 percent." value="0.03" help="-percentBad,--percentBadVariants &lt;percentBadVariants&gt;"/> | |
343 </when> | |
344 <when value="min_num"> | |
345 <param name="min_num_bad_variants" type="integer" label="minimum amount of worst scoring variants to use when building the Gaussian mixture model of bad variants. Will override -percentBad arugment if necessary" value="2000" help="-minNumBad,--minNumBadVariants &lt;minNumBadVariants&gt;"/> | |
346 </when> | |
347 </conditional> | |
348 <param name="target_titv" type="float" label="expected novel Ti/Tv ratio to use when calculating FDR tranches and for display on optimization curve output figures. (approx 2.15 for whole genome experiments). ONLY USED FOR PLOTTING PURPOSES!" value="2.15" help="-titv,--target_titv &lt;target_titv&gt;"/> | |
349 <param name="ts_tranche" type="text" label="levels of novel false discovery rate (FDR, implied by ti/tv) at which to slice the data. (in percent, that is 1.0 for 1 percent)" value="100.0, 99.9, 99.0, 90.0" help="-tranche,--TStranche &lt;TStranche&gt;"/> | |
350 <repeat name="ignore_filters" title="Ignore Filter" help="-ignoreFilter,--ignore_filter &lt;ignore_filter&gt;"> | |
351 <conditional name="ignore_filter_type"> | |
352 <param name="ignore_filter_type_selector" type="select" label="Filter Type"> | |
353 <option value="HARD_TO_VALIDATE">HARD_TO_VALIDATE</option> | |
354 <option value="LowQual" >LowQual</option> | |
355 <option value="custom" selected="True">Other</option> | |
356 </param> | |
357 <when value="custom"> | |
358 <param name="filter_name" type="text" value="" label="Filter name"/> | |
359 </when> | |
360 <when value="HARD_TO_VALIDATE" /> | |
361 <when value="LowQual" /> | |
362 </conditional> | |
363 </repeat> | |
364 <param name="ts_filter_level" type="float" label="truth sensitivity level at which to start filtering, used here to indicate filtered variants in plots" value="99.0" help="-ts_filter_level,--ts_filter_level &lt;ts_filter_level&gt;"/> | |
365 </expand> | |
366 </inputs> | |
367 <outputs> | |
368 <data format="gatk_recal" name="output_recal" label="${tool.name} on ${on_string} (Recalibration File)" /> | |
369 <data format="gatk_tranche" name="output_tranches" label="${tool.name} on ${on_string} (Tranches File)" /> | |
370 <data format="txt" name="output_rscript" label="${tool.name} on ${on_string} (RScript File)" /> | |
371 <data format="pdf" name="output_tranches_pdf" label="${tool.name} on ${on_string} (PDF File)" /> | |
372 <data format="txt" name="output_log" label="${tool.name} on ${on_string} (log)" /> | |
373 </outputs> | |
374 <tests> | |
375 <!-- ADD TESTS --> | |
376 </tests> | |
377 <help> | |
378 **What it does** | |
379 | |
380 Takes variant calls as .vcf files, learns a Gaussian mixture model over the variant annotations and evaluates the variant -- assigning an informative lod score | |
381 | |
382 For more information on using the VariantRecalibrator module, see this `tool specific page <http://www.broadinstitute.org/gsa/wiki/index.php/Variant_quality_score_recalibration>`_. | |
383 | |
384 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>`_. | |
385 | |
386 If you encounter errors, please view the `GATK FAQ <http://www.broadinstitute.org/gsa/wiki/index.php/Frequently_Asked_Questions>`_. | |
387 | |
388 ------ | |
389 | |
390 **Inputs** | |
391 | |
392 GenomeAnalysisTK: VariantRecalibrator accepts a variant input file. | |
393 | |
394 | |
395 **Outputs** | |
396 | |
397 The output is in VCF format. | |
398 | |
399 | |
400 Go `here <http://www.broadinstitute.org/gsa/wiki/index.php/Input_files_for_the_GATK>`_ for details on GATK file formats. | |
401 | |
402 ------- | |
403 | |
404 **Settings**:: | |
405 | |
406 | |
407 tranches_file The output tranches file used by ApplyRecalibration | |
408 use_annotation The names of the annotations which should used for calculations | |
409 mode Recalibration mode to employ: 1.) SNP for recalibrating only snps (emitting indels untouched in the output VCF); 2.) INDEL for indels; and 3.) BOTH for recalibrating both snps and indels simultaneously. (SNP|INDEL|BOTH) | |
410 maxGaussians The maximum number of Gaussians to try during variational Bayes algorithm | |
411 maxIterations The maximum number of VBEM iterations to be performed in variational Bayes algorithm. Procedure will normally end when convergence is detected. | |
412 numKMeans The number of k-means iterations to perform in order to initialize the means of the Gaussians in the Gaussian mixture model. | |
413 stdThreshold If a variant has annotations more than -std standard deviations away from mean then don't use it for building the Gaussian mixture model. | |
414 qualThreshold If a known variant has raw QUAL value less than -qual then don't use it for building the Gaussian mixture model. | |
415 shrinkage The shrinkage parameter in variational Bayes algorithm. | |
416 dirichlet The dirichlet parameter in variational Bayes algorithm. | |
417 priorCounts The number of prior counts to use in variational Bayes algorithm. | |
418 percentBadVariants What percentage of the worst scoring variants to use when building the Gaussian mixture model of bad variants. 0.07 means bottom 7 percent. | |
419 minNumBadVariants The minimum amount of worst scoring variants to use when building the Gaussian mixture model of bad variants. Will override -percentBad arugment if necessary. | |
420 recal_file The output recal file used by ApplyRecalibration | |
421 target_titv The expected novel Ti/Tv ratio to use when calculating FDR tranches and for display on optimization curve output figures. (approx 2.15 for whole genome experiments). ONLY USED FOR PLOTTING PURPOSES! | |
422 TStranche The levels of novel false discovery rate (FDR, implied by ti/tv) at which to slice the data. (in percent, that is 1.0 for 1 percent) | |
423 ignore_filter If specified the optimizer will use variants even if the specified filter name is marked in the input VCF file | |
424 path_to_Rscript The path to your implementation of Rscript. For Broad users this is maybe /broad/tools/apps/R-2.6.0/bin/Rscript | |
425 rscript_file The output rscript file generated by the VQSR to aid in visualization of the input data and learned model | |
426 path_to_resources Path to resources folder holding the Sting R scripts. | |
427 ts_filter_level The truth sensitivity level at which to start filtering, used here to indicate filtered variants in plots | |
428 | |
429 @CITATION_SECTION@ | |
430 </help> | |
431 </tool> |