Mercurial > repos > devteam > freebayes
comparison freebayes.xml @ 28:977a5301b66d draft
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 9bbda385129b4bc34f66889d28c2570bf5bb2214
author | iuc |
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date | Tue, 06 Jun 2017 18:41:18 -0400 |
parents | 9f164587a92f |
children | 156b60c1530f |
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27:9f164587a92f | 28:977a5301b66d |
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1 <tool id="freebayes" name="FreeBayes" version="@DEPENDENCY_VERSION@-0"> | 1 <tool id="freebayes" name="FreeBayes" version="@DEPENDENCY_VERSION@-1"> |
2 <description>bayesian genetic variant detector</description> | 2 <description>bayesian genetic variant detector</description> |
3 <macros> | 3 <macros> |
4 <import>macros.xml</import> | 4 <import>macros.xml</import> |
5 </macros> | 5 </macros> |
6 <requirements> | 6 <expand macro="requirements"> |
7 <requirement type="package" version="@DEPENDENCY_VERSION@">freebayes</requirement> | |
8 <requirement type="package" version="0.1.19">samtools</requirement> | |
9 <requirement type="package" version="4.1.3">gawk</requirement> | 7 <requirement type="package" version="4.1.3">gawk</requirement> |
10 <requirement type="package" version="20160622">parallel</requirement> | 8 <requirement type="package" version="20160622">parallel</requirement> |
11 </requirements> | 9 </expand> |
12 <stdio> | 10 <command detect_errors="exit_code"><![CDATA[ |
13 <exit_code range="1:" /> | |
14 </stdio> | |
15 <command><![CDATA[ | |
16 ##set up input files | 11 ##set up input files |
17 | 12 |
18 #set $reference_fasta_filename = "localref.fa" | 13 #set $reference_fasta_filename = "localref.fa" |
19 | 14 |
20 #if str( $reference_source.reference_source_selector ) == "history": | 15 #if str( $reference_source.reference_source_selector ) == "history": |
35 ln -s -f '${input_bam.metadata.bam_index}' 'b_${bam_count}.bam.bai' && | 30 ln -s -f '${input_bam.metadata.bam_index}' 'b_${bam_count}.bam.bai' && |
36 #end for | 31 #end for |
37 | 32 |
38 ## Tabixize optional input_variant_vcf file (for --variant-input option) | 33 ## Tabixize optional input_variant_vcf file (for --variant-input option) |
39 #if ( str( $options_type.options_type_selector ) == 'cline' or str( $options_type.options_type_selector ) == 'full' ) and str( $options_type.optional_inputs.optional_inputs_selector ) == 'set' and str( $options_type.optional_inputs.input_variant_type.input_variant_type_selector ) == "provide_vcf": | 34 #if ( str( $options_type.options_type_selector ) == 'cline' or str( $options_type.options_type_selector ) == 'full' ) and str( $options_type.optional_inputs.optional_inputs_selector ) == 'set' and str( $options_type.optional_inputs.input_variant_type.input_variant_type_selector ) == "provide_vcf": |
40 ln -s -f '${options_type.optional_inputs.input_variant_type.input_variant_vcf}' 'input_variant_vcf.vcf.gz' && | 35 ln -s -f '${options_type.optional_inputs.input_variant_type.input_variant_vcf}' input_variant_vcf.vcf.gz && |
41 ln -s -f '${Tabixized_input}' 'input_variant_vcf.vcf.gz.tbi' && | 36 ln -s -f '${Tabixized_input}' input_variant_vcf.vcf.gz.tbi && |
42 #end if | 37 #end if |
43 | 38 |
44 ##if user has specified a region or target file, just use instead of calculating a set of unique regions | 39 ##if the user has specified a region or target file, just use that instead of calculating a set of unique regions |
45 | |
46 #if str( $target_limit_type.target_limit_type_selector ) == "limit_by_target_file": | 40 #if str( $target_limit_type.target_limit_type_selector ) == "limit_by_target_file": |
47 ln -s '${target_limit_type.input_target_bed}' regions_all.bed && | 41 ln -s '${target_limit_type.input_target_bed}' regions_all.bed && |
48 #elif str( $target_limit_type.target_limit_type_selector ) == "limit_by_region": | 42 #elif str( $target_limit_type.target_limit_type_selector ) == "limit_by_region": |
49 printf '${target_limit_type.region_chromosome}\t${target_limit_type.region_start}\t${target_limit_type.region_end}' > regions_all.bed && | 43 printf '${target_limit_type.region_chromosome}\t${target_limit_type.region_start}\t${target_limit_type.region_end}' > regions_all.bed && |
50 #else | 44 #else |
51 ##divide up the regions in the bam file for efficient processing | 45 ##divide up the regions in the bam file for efficient processing |
52 #for $bam_count, $input_bam in enumerate( $input_bamfiles ): | 46 #for $bam_count, $input_bam in enumerate( $input_bamfiles ): |
53 samtools view -H b_${bam_count}.bam | | 47 samtools view -H b_${bam_count}.bam | |
54 grep "^@SQ" | | 48 grep '^@SQ' | |
55 cut -f 2- | | 49 cut -f 2- | |
56 awk '{ gsub("^SN:","",$1); | 50 awk '{ gsub("^SN:","",$1); gsub("^LN:","",$2); print $1"\t0\t"$2; }' >> regions_all.bed && |
57 gsub("^LN:","",$2); | |
58 print $1"\t0\t"$2; }' >> regions_all.bed && | |
59 #end for | 51 #end for |
60 #end if | 52 #end if |
61 | 53 |
62 sort -u regions_all.bed > regions_uniq.bed && | 54 sort -u regions_all.bed > regions_uniq.bed && |
63 ## split into even small chunks, this has some disatvantages and will not be used for the moment | 55 ## split into even small chunks, this has some disatvantages and will not be used for the moment |
64 ## bedtools makewindows -b regions_uniq.bed -w 10000000 -s 9990000 > regions.bed && | 56 ## bedtools makewindows -b regions_uniq.bed -w 10000000 -s 9990000 > regions.bed && |
65 | 57 |
66 mkdir vcf_output && | 58 mkdir vcf_output failed_alleles trace && |
67 mkdir failed_alleles && | |
68 mkdir trace && | |
69 | 59 |
70 ## Finished setting up inputs | 60 ## Finished setting up inputs |
71 | 61 |
72 for i in `cat regions_uniq.bed | awk '{print $1":"$2".."$3}'`; | 62 for i in `cat regions_uniq.bed | awk '{print $1":"$2".."$3}'`; |
73 do | 63 do |
74 | |
75 echo " | 64 echo " |
76 | 65 |
77 ## COMMAND LINE STARTS HERE | 66 ## COMMAND LINE STARTS HERE |
78 | 67 |
79 freebayes | 68 freebayes |
88 ## Outputs | 77 ## Outputs |
89 --vcf './vcf_output/part_\$i.vcf' | 78 --vcf './vcf_output/part_\$i.vcf' |
90 | 79 |
91 ##advanced options | 80 ##advanced options |
92 #if str( $options_type.options_type_selector ) == "simple": | 81 #if str( $options_type.options_type_selector ) == "simple": |
93 ##do nothing as command like build up to this point is sufficinet for simple diploid calling | 82 #pass |
94 | |
95 #elif str( $options_type.options_type_selector ) == "simple_w_filters": | 83 #elif str( $options_type.options_type_selector ) == "simple_w_filters": |
96 --standard-filters | 84 --standard-filters |
97 --min-coverage '${options_type.min_coverage}' | 85 --min-coverage ${options_type.min_coverage} |
98 #elif str( $options_type.options_type_selector ) == "naive": | 86 #elif str( $options_type.options_type_selector ) == "naive": |
99 --haplotype-length 0 | 87 --haplotype-length 0 |
100 --min-alternate-count 1 | 88 --min-alternate-count 1 |
101 --min-alternate-fraction 0 | 89 --min-alternate-fraction 0 |
102 --pooled-continuous | 90 --pooled-continuous |
106 --min-alternate-count 1 | 94 --min-alternate-count 1 |
107 --min-alternate-fraction 0 | 95 --min-alternate-fraction 0 |
108 --pooled-continuous | 96 --pooled-continuous |
109 --report-monomorphic | 97 --report-monomorphic |
110 --standard-filters | 98 --standard-filters |
111 --min-coverage '${options_type.min_coverage}' | 99 --min-coverage ${options_type.min_coverage} |
112 | |
113 ## Command line direct text entry is not allowed at this time for security reasons | |
114 #elif str( $options_type.options_type_selector ) == "full": | 100 #elif str( $options_type.options_type_selector ) == "full": |
115 #if str( $options_type.optional_inputs.optional_inputs_selector ) == 'set': | 101 #if str( $options_type.optional_inputs.optional_inputs_selector ) == 'set': |
116 ${options_type.optional_inputs.report_monomorphic} | 102 ${options_type.optional_inputs.report_monomorphic} |
117 | 103 |
118 #if $options_type.optional_inputs.output_trace_option: | 104 #if $options_type.optional_inputs.output_trace_option: |
149 #if str( $options_type.reporting.reporting_selector ) == "set": | 135 #if str( $options_type.reporting.reporting_selector ) == "set": |
150 --pvar ${options_type.reporting.pvar} | 136 --pvar ${options_type.reporting.pvar} |
151 #end if | 137 #end if |
152 ## POPULATION MODEL | 138 ## POPULATION MODEL |
153 #if str( $options_type.population_model.population_model_selector ) == "set": | 139 #if str( $options_type.population_model.population_model_selector ) == "set": |
154 --theta '${options_type.population_model.T}' | 140 --theta ${options_type.population_model.T} |
155 --ploidy '${options_type.population_model.P}' | 141 --ploidy ${options_type.population_model.P} |
156 ${options_type.population_model.J} | 142 ${options_type.population_model.J} |
157 ${options_type.population_model.K} | 143 ${options_type.population_model.K} |
158 #end if | 144 #end if |
159 | 145 |
160 ## REFERENCE ALLELE | 146 ## REFERENCE ALLELE |
169 ${options_type.allele_scope.i} | 155 ${options_type.allele_scope.i} |
170 ${options_type.allele_scope.X} | 156 ${options_type.allele_scope.X} |
171 ${options_type.allele_scope.u} | 157 ${options_type.allele_scope.u} |
172 ${options_type.allele_scope.no_partial_observations} | 158 ${options_type.allele_scope.no_partial_observations} |
173 | 159 |
174 -n '${options_type.allele_scope.n}' | 160 -n ${options_type.allele_scope.n} |
175 | 161 |
176 --haplotype-length '${options_type.allele_scope.haplotype_length}' | 162 --haplotype-length ${options_type.allele_scope.haplotype_length} |
177 --min-repeat-size '${options_type.allele_scope.min_repeat_length}' | 163 --min-repeat-size ${options_type.allele_scope.min_repeat_length} |
178 --min-repeat-entropy '${options_type.allele_scope.min_repeat_entropy}' | 164 --min-repeat-entropy ${options_type.allele_scope.min_repeat_entropy} |
179 #end if | 165 #end if |
180 | 166 |
181 ## REALIGNMENT | 167 ## REALIGNMENT |
182 ${options_type.O} | 168 ${options_type.O} |
183 | 169 |
184 ##INPUT FILTERS | 170 ##INPUT FILTERS |
185 #if str( $options_type.input_filters.input_filters_selector ) == "set": | 171 #if str( $options_type.input_filters.input_filters_selector ) == "set": |
186 ${options_type.input_filters.use_duplicate_reads} | 172 ${options_type.input_filters.use_duplicate_reads} |
187 -m '${options_type.input_filters.m}' | 173 -m ${options_type.input_filters.m} |
188 -q '${options_type.input_filters.q}' | 174 -q ${options_type.input_filters.q} |
189 -R '${options_type.input_filters.R}' | 175 -R ${options_type.input_filters.R} |
190 -Y '${options_type.input_filters.Y}' | 176 -Y ${options_type.input_filters.Y} |
191 -e '${options_type.input_filters.e}' | 177 -e ${options_type.input_filters.e} |
192 -F '${options_type.input_filters.F}' | 178 -F ${options_type.input_filters.F} |
193 -C '${options_type.input_filters.C}' | 179 -C ${options_type.input_filters.C} |
194 -G '${options_type.input_filters.G}' | 180 -G ${options_type.input_filters.G} |
195 | 181 |
196 #if str( $options_type.input_filters.mismatch_filters.mismatch_filters_selector ) == "set": | 182 #if str( $options_type.input_filters.mismatch_filters.mismatch_filters_selector ) == "set": |
197 -Q '${options_type.input_filters.mismatch_filters.Q}' | 183 -Q ${options_type.input_filters.mismatch_filters.Q} |
198 -U '${options_type.input_filters.mismatch_filters.U}' | 184 #if str($options_type.input_filters.mismatch_filters.U) |
199 -z '${options_type.input_filters.mismatch_filters.z}' | 185 -U ${options_type.input_filters.mismatch_filters.U} |
200 | 186 #end if |
201 --read-snp-limit '${options_type.input_filters.mismatch_filters.read_snp_limit}' | 187 -z ${options_type.input_filters.mismatch_filters.z} |
202 #end if | 188 |
203 | 189 --read-snp-limit ${options_type.input_filters.mismatch_filters.read_snp_limit} |
204 --min-coverage '${options_type.input_filters.min_coverage}' | 190 #end if |
205 --min-alternate-qsum "${options_type.input_filters.min_alternate_qsum}" | 191 |
192 --min-coverage ${options_type.input_filters.min_coverage} | |
193 --min-alternate-qsum ${options_type.input_filters.min_alternate_qsum} | |
206 #end if | 194 #end if |
207 | 195 |
208 ## POPULATION AND MAPPABILITY PRIORS | 196 ## POPULATION AND MAPPABILITY PRIORS |
209 #if str( $options_type.population_mappability_priors.population_mappability_priors_selector ) == "set": | 197 #if str( $options_type.population_mappability_priors.population_mappability_priors_selector ) == "set": |
210 ${options_type.population_mappability_priors.k} | 198 ${options_type.population_mappability_priors.k} |
215 | 203 |
216 ## GENOTYPE LIKELIHOODS | 204 ## GENOTYPE LIKELIHOODS |
217 #if str( $options_type.genotype_likelihoods.genotype_likelihoods_selector ) == "set": | 205 #if str( $options_type.genotype_likelihoods.genotype_likelihoods_selector ) == "set": |
218 ${$options_type.genotype_likelihoods.experimental_gls} | 206 ${$options_type.genotype_likelihoods.experimental_gls} |
219 | 207 |
220 --base-quality-cap '${$options_type.genotype_likelihoods.base_quality_cap}' | 208 --base-quality-cap ${$options_type.genotype_likelihoods.base_quality_cap} |
221 --prob-contamination '${$options_type.genotype_likelihoods.prob_contamination}' | 209 --prob-contamination ${$options_type.genotype_likelihoods.prob_contamination} |
222 #end if | 210 #end if |
223 | 211 |
224 ## ALGORITHMIC FEATURES | 212 ## ALGORITHMIC FEATURES |
225 #if str( $options_type.algorithmic_features.algorithmic_features_selector ) == "set": | 213 #if str( $options_type.algorithmic_features.algorithmic_features_selector ) == "set": |
226 -B '${options_type.algorithmic_features.B}' | 214 -B '${options_type.algorithmic_features.B}' |
227 -W '${options_type.algorithmic_features.W}' | 215 -W '${options_type.algorithmic_features.W}' |
228 -D '${options_type.algorithmic_features.D}' | 216 -D '${options_type.algorithmic_features.D}' |
229 | 217 |
230 #if str( $options_type.algorithmic_features.genotype_variant_threshold.genotype_variant_threshold_selector ) == "set": | 218 #if str($options_type.algorithmic_features.genotype_variant_threshold) |
231 -S '${options_type.algorithmic_features.genotype_variant_threshold.S}' | 219 -S ${options_type.algorithmic_features.genotype_variant_threshold} |
232 #end if | 220 #end if |
233 | 221 |
234 ${options_type.algorithmic_features.N} | 222 ${options_type.algorithmic_features.N} |
235 ${options_type.algorithmic_features.j} | 223 ${options_type.algorithmic_features.j} |
236 ${options_type.algorithmic_features.H} | 224 ${options_type.algorithmic_features.H} |
237 ${options_type.algorithmic_features.genotype_qualities} | 225 ${options_type.algorithmic_features.genotype_qualities} |
238 ${options_type.algorithmic_features.report_genotype_likelihood_max} | 226 ${options_type.algorithmic_features.report_genotype_likelihood_max} |
239 | 227 |
240 --genotyping-max-banddepth '${options_type.algorithmic_features.genotyping_max_banddepth}' | 228 --genotyping-max-banddepth ${options_type.algorithmic_features.genotyping_max_banddepth} |
241 #end if | 229 #end if |
242 #end if | 230 #end if |
243 | 231 |
244 "; | 232 "; |
245 done > freebayes_commands.sh && | 233 done > freebayes_commands.sh && |
246 | 234 |
247 cat freebayes_commands.sh | | 235 cat freebayes_commands.sh | |
248 parallel --no-notice -j \${GALAXY_SLOTS:-1} && | 236 parallel --will-cite -j \${GALAXY_SLOTS:-1} && |
249 | 237 |
250 ## make VCF header | 238 ## make VCF header |
251 grep "^#" "./vcf_output/part_\$i.vcf" > header.txt && | 239 grep "^#" "./vcf_output/part_\$i.vcf" > header.txt && |
252 | 240 |
253 for i in `cat regions_uniq.bed | awk '{print $1":"$2".."$3}'`; | 241 for i in `cat regions_uniq.bed | awk '{print $1":"$2".."$3}'`; |
290 <expand macro="input_bam"> | 278 <expand macro="input_bam"> |
291 <expand macro="validation" /> | 279 <expand macro="validation" /> |
292 </expand> | 280 </expand> |
293 <param name="ref_file" type="select" label="Using reference genome"> | 281 <param name="ref_file" type="select" label="Using reference genome"> |
294 <options from_data_table="fasta_indexes" /> | 282 <options from_data_table="fasta_indexes" /> |
295 <validator type="no_options" message="A built-in reference genome is not available for the build associated with the selected input file"/> | 283 <validator type="no_options" message="A built-in reference genome is not available for the build associated with the selected input dataset"/> |
296 </param> | 284 </param> |
297 </when> | 285 </when> |
298 <when value="history"> <!-- FIX ME!!!! --> | 286 <when value="history"> <!-- FIX ME!!!! --> |
299 <expand macro="input_bam" /> | 287 <expand macro="input_bam" /> |
300 <param name="ref_file" type="data" format="fasta" label="Use the following dataset as the reference sequence" | 288 <param name="ref_file" type="data" format="fasta" label="Use the following dataset as the reference sequence" |
301 help="You can upload a FASTA sequence to the history and use it as reference" /> | 289 help="You can upload a FASTA sequence to the history and use it as reference" /> |
302 </when> | 290 </when> |
303 </conditional> | 291 </conditional> |
304 <conditional name="target_limit_type"> | 292 <conditional name="target_limit_type"> |
305 <param name="target_limit_type_selector" type="select" label="Limit variant calling to a set of regions?" help="Sets --targets or --region options"> | 293 <param name="target_limit_type_selector" type="select" label="Limit variant calling to a set of regions?" help="Sets --targets or --region options"> |
306 <option value="do_not_limit" selected="True">Do not limit</option> | 294 <option value="do_not_limit" selected="true">Do not limit</option> |
307 <option value="limit_by_target_file">Limit by target file</option> | 295 <option value="limit_by_target_file">Limit by target file</option> |
308 <option value="limit_by_region">Limit to region</option> | 296 <option value="limit_by_region">Limit to region</option> |
309 </param> | 297 </param> |
310 <when value="do_not_limit" /><!-- Do nothing here --> | 298 <when value="do_not_limit" /> |
311 <when value="limit_by_target_file"> | 299 <when value="limit_by_target_file"> |
312 <param name="input_target_bed" type="data" format="bed" label="Limit analysis to regions in a file (BED-format)." argument="--targets"/> | 300 <param name="input_target_bed" argument="--targets" type="data" format="bed" label="Limit analysis to regions in this BED dataset" /> |
313 </when> | 301 </when> |
314 <when value="limit_by_region"> | 302 <when value="limit_by_region"> |
315 <param name="region_chromosome" type="text" label="Region Chromosome" value="" argument="--region"/> <!--only once? --> | 303 <param name="region_chromosome" argument="--region" type="text" label="Region Chromosome" value="" /> <!--only once? --> |
316 <param name="region_start" type="integer" label="Region Start" value="" /> | 304 <param name="region_start" type="integer" label="Region Start" value="" /> |
317 <param name="region_end" type="integer" label="Region End" value="" /> | 305 <param name="region_end" type="integer" label="Region End" value="" /> |
318 </when> | 306 </when> |
319 </conditional> | 307 </conditional> |
320 <conditional name="options_type"> | 308 <conditional name="options_type"> |
321 <param name="options_type_selector" type="select" label="Choose parameter selection level" | 309 <param name="options_type_selector" type="select" label="Choose parameter selection level" |
322 help="Select how much control over the freebayes run you need" > | 310 help="Select how much control over the freebayes run you need"> |
323 <option value="simple" selected="True">1. Simple diploid calling</option> | 311 <option value="simple" selected="true">1. Simple diploid calling</option> |
324 <option value="simple_w_filters">2. Simple diploid calling with filtering and coverage</option> | 312 <option value="simple_w_filters">2. Simple diploid calling with filtering and coverage</option> |
325 <option value="naive">3. Frequency-based pooled calling</option> | 313 <option value="naive">3. Frequency-based pooled calling</option> |
326 <option value="naive_w_filters">4. Frequency-based pooled calling with filtering and coverage</option> | 314 <option value="naive_w_filters">4. Frequency-based pooled calling with filtering and coverage</option> |
327 <option value="full">5. Full list of options</option> | 315 <option value="full">5. Full list of options</option> |
328 </param> | 316 </param> |
329 <when value="full"> | 317 <when value="full"> |
330 <conditional name="optional_inputs"> | 318 <conditional name="optional_inputs"> |
331 <param name="optional_inputs_selector" type="select" label="Additional inputs" | 319 <param name="optional_inputs_selector" type="select" label="Additional inputs" |
332 help="Sets --samples, --populations, --cnv-map, --trace, --failed-alleles, --varinat-input, --only-use-input-alleles, --haplotype-basis-alleles, | 320 help="Sets --samples, --populations, --cnv-map, --trace, --failed-alleles, --variant-input, --only-use-input-alleles, --haplotype-basis-alleles, --report-all-haplotype-alleles, --report-monomorphic options, --observation-bias, and --contamination-estimates"> |
333 --report-all-haplotype-alleles, --report-monomorphic options, --observation-bias, and --contamination-estimates"> | |
334 <option value="do_not_set" selected="true">Do not provide additional inputs</option> | 321 <option value="do_not_set" selected="true">Do not provide additional inputs</option> |
335 <option value="set">Provide additional inputs</option> | 322 <option value="set">Provide additional inputs</option> |
336 </param> | 323 </param> |
337 <when value="set"> | 324 <when value="set"> |
338 <param name="output_failed_alleles_option" type="boolean" truevalue="--failed-alleles" falsevalue="" checked="False" | 325 <param name="output_failed_alleles_option" argument="--failed-alleles" type="boolean" truevalue="--failed-alleles" falsevalue="" checked="false" |
339 label="Write out failed alleles file" argument="--failed-alleles" /> | 326 label="Write out failed alleles file" /> |
340 <param name="output_trace_option" type="boolean" truevalue="--trace" falsevalue="" checked="False" | 327 <param name="output_trace_option" argument="--trace" type="boolean" truevalue="--trace" falsevalue="" checked="false" |
341 label="Write out algorithm trace file" argument="--trace"/> | 328 label="Write out algorithm trace file" /> |
342 <param name="samples" type="data" format="txt" label="Limit analysis to samples listed (one per line) in the FILE" optional="True" | 329 <param argument="--samples" type="data" format="txt" |
343 help="default=By default FreeBayes will analyze all samples in its input BAM files" argument="--samples"/> | 330 label="Limit analysis to samples listed (one per line) in this dataset" optional="true" |
344 <param name="populations" type="data" format="txt" label="Populations File" optional="True" | 331 help="By default FreeBayes will analyze all samples in its input BAM datasets" /> |
345 help="Each line of FILE should list a sample and a population which it is part of. The population-based bayesian inference model will | 332 <param argument="--populations" type="data" format="txt" optional="true" |
346 then be partitioned on the basis of the populations. [default=False]" | 333 label="Populations dataset" |
347 argument="--populations" /> | 334 help="Each line of this dataset should list a sample and a population which it is part of. The population-based bayesian inference model will then be partitioned on the basis of the populations" /> |
348 <param name="A" type="data" format="bed" label="Read a copy number map from the BED file FILE" optional="True" | 335 <param name="A" argument="--cnv-map" type="data" format="bed" optional="true" |
349 help="default=copy number is set to as specified by --ploidy. Read a copy number map from the BED file FILE, which has the format: | 336 label="Read a copy number map from a BED dataset" |
350 reference sequence, start, end, sample name, copy number ... for each region in each sample which does not have the default copy number as set by --ploidy." | 337 help="The BED dataset should have the format: 'reference sequence, start, end, sample name, copy number' for each region in each sample which does not have the default copy number as set by --ploidy. If not specified, copy number is set to as specified by --ploidy" /> |
351 argument="--cnv-map" /> | |
352 <conditional name="input_variant_type"> | 338 <conditional name="input_variant_type"> |
353 <param name="input_variant_type_selector" type="select" label="Provide variants file"> | 339 <param name="input_variant_type_selector" type="select" label="Provide variants dataset"> |
354 <option value="do_not_provide" selected="True">Do not provide</option> | 340 <option value="do_not_provide" selected="true">Do not provide</option> |
355 <option value="provide_vcf">Provide VCF file</option> | 341 <option value="provide_vcf">Provide VCF dataset</option> |
356 </param> | 342 </param> |
357 <when value="do_not_provide" /><!-- Do nothing here --> | 343 <when value="do_not_provide" /> |
358 <when value="provide_vcf"> | 344 <when value="provide_vcf"> |
359 <param name="input_variant_vcf" type="data" format="vcf_bgzip" label="Use variants reported in VCF file as input to the algorithm" argument="--variant-input"> | 345 <param name="input_variant_vcf" argument="--variant-input" type="data" format="vcf_bgzip" |
346 label="Use variants reported in this VCF dataset as input to the algorithm"> | |
360 <conversion name="Tabixized_input" type="tabix" /> | 347 <conversion name="Tabixized_input" type="tabix" /> |
361 </param> | 348 </param> |
362 <param name="only_use_input_alleles" type="boolean" truevalue="--only-use-input-alleles" falsevalue="" checked="False" | 349 <param name="only_use_input_alleles" argument="--only-use-input-alleles" type="boolean" truevalue="--only-use-input-alleles" falsevalue="" checked="false" |
363 label="Only provide variant calls and genotype likelihoods for sites in VCF" argument="--only-use-input-alleles" /> | 350 label="Only provide variant calls and genotype likelihoods for sites in VCF" /> |
364 </when> | 351 </when> |
365 </conditional> | 352 </conditional> |
366 <param name="haplotype_basis_alleles" type="data" format="vcf" label="Only use variant alleles provided in this input VCF for the construction of complex or haplotype alleles" optional="True" | 353 <param name="haplotype_basis_alleles" argument="--haplotype-basis-alleles" type="data" format="vcf" optional="true" |
367 argument="--haplotype-basis-alleles" /> | 354 label="Only use variant alleles provided in this input VCF for the construction of complex or haplotype alleles" /> |
368 <param name="report_monomorphic" type="boolean" truevalue="--report-monomorphic" falsevalue="" checked="False" | 355 <param name="report_monomorphic" argument="--report-monomorphic" type="boolean" truevalue="--report-monomorphic" falsevalue="" checked="false" |
369 label="Report even loci which appear to be monomorphic, and report all considered alleles, even those which are not in called genotypes." | 356 label="Report even loci which appear to be monomorphic, and report all considered alleles, even those which are not in called genotypes" /> |
370 argument="--report-monomorphic" /> | 357 <param name="observation_bias" argument="--observation-bias" type="data" format="tabular" optional="true" |
371 <param name="observation_bias" optional="True" type="data" format="tabular" label="Load read length-dependent allele observation biases from" | 358 label="Load read length-dependent allele observation biases from" |
372 help="The format is [length] [alignment efficiency relative to reference] where the efficiency is 1 if there is no relative observation bias" | 359 help="The format is [length] [alignment efficiency relative to reference] where the efficiency is 1 if there is no relative observation bias" /> |
373 argument="--observation-bias" /> | 360 <param name="contamination_estimates" argument="--contamination-estimates" type="data" format="tabular" optional="true" |
374 <param name="contamination_estimates" optional="True" type="data" format="tabular" label="Upload per-sample estimates of contamination from" | 361 label="Upload per-sample estimates of contamination from" |
375 help="The format should be: sample p(read=R|genotype=AR) p(read=A|genotype=AA) Sample '*' can be used to set default contamination estimates." | 362 help="The format should be: sample p(read=R|genotype=AR) p(read=A|genotype=AA) Sample '*' can be used to set default contamination estimates" /> |
376 argument="--contamination-estimates" /> | 363 </when> |
377 </when> | 364 <when value="do_not_set" /> |
378 <when value="do_not_set" /><!-- do nothing --> | |
379 </conditional> | 365 </conditional> |
380 | 366 |
381 <!-- reporting --> | 367 <!-- reporting --> |
382 <conditional name="reporting"> | 368 <conditional name="reporting"> |
383 <param name="reporting_selector" type="select" label="Reporting options" help="Sets -P --pvar option"> | 369 <param name="reporting_selector" type="select" label="Reporting options" help="Sets -P --pvar option"> |
384 <option value="do_not_set" selected="True">Use defaults</option> | 370 <option value="do_not_set" selected="true">Use defaults</option> |
385 <option value="set">Set reporting options</option> | 371 <option value="set">Set reporting options</option> |
386 </param> | 372 </param> |
387 <when value="set"> | 373 <when value="set"> |
388 <param name="pvar" type="float" value="0.0" label="Report sites if the probability that there is a polymorphism at the site is greater than" | 374 <param argument="--pvar" type="float" value="0.0" |
389 help="Note that post-filtering is generally recommended over the use of this parameter. [default=0.0]" | 375 label="Report sites if the probability that there is a polymorphism at the site is greater than" |
390 argument="--pvar" /> | 376 help="Note that post-filtering is generally recommended over the use of this parameter" /> |
391 </when> | 377 </when> |
392 <when value="do_not_set" /><!-- do nothing --> | 378 <when value="do_not_set" /> |
393 </conditional> | 379 </conditional> |
394 | 380 |
395 <!-- population model --> | 381 <!-- population model --> |
396 <conditional name="population_model"> | 382 <conditional name="population_model"> |
397 <param name="population_model_selector" type="select" label="Population model options" | 383 <param name="population_model_selector" type="select" label="Population model options" |
398 help="Sets --theta, --ploidy, --pooled-discrete, and --pooled-continuous options " > | 384 help="Sets --theta, --ploidy, --pooled-discrete, and --pooled-continuous options"> |
399 <option value="do_not_set" selected="true">Use defaults</option> | 385 <option value="do_not_set" selected="true">Use defaults</option> |
400 <option value="set">Set population model options</option> | 386 <option value="set">Set population model options</option> |
401 </param> | 387 </param> |
402 <when value="set"> | 388 <when value="set"> |
403 <param name="T" type="float" value="0.001" label="The expected mutation rate or pairwise nucleotide diversity among the population under analysis" | 389 <param name="T" argument="--theta" type="float" value="0.001" |
404 help="This serves as the single parameter to the Ewens Sampling Formula prior model. [default = 0.001]" argument='--theta'/> | 390 label="The expected mutation rate or pairwise nucleotide diversity among the population under analysis" |
405 <param name="P" type="integer" value="2" label="Set ploidy for the analysis" | 391 help="This serves as the single parameter to the Ewens Sampling Formula prior model" /> |
406 help="default=2" argument='--ploidy' /> | 392 <param name="P" argument="--ploidy" type="integer" value="2" |
407 <param name="J" type="boolean" truevalue="-J" falsevalue="" checked="False" label="Assume that samples result from pooled sequencing" | 393 label="Set ploidy for the analysis" /> |
408 help="Model pooled samples using discrete genotypes across pools. When using this flag, set --ploidy to the number of alleles in each sample or use the --cnv-map to define per-sample ploidy. [default=False]" | 394 <param name="J" argument="--pooled-discrete" type="boolean" truevalue="-J" falsevalue="" checked="false" |
409 argument="--pooled-discrete"/> | 395 label="Assume that samples result from pooled sequencing" |
410 <param name="K" type="boolean" truevalue="-K" falsevalue="" checked="False" label="Output all alleles which pass input filters, regardles of genotyping outcome or model" | 396 help="Model pooled samples using discrete genotypes across pools. When using this flag, set --ploidy to the number of alleles in each sample or use the --cnv-map to define per-sample ploidy" /> |
411 help="default=False." argument="--poled-continuous" /> | 397 <param name="K" argument="--poled-continuous" type="boolean" truevalue="-K" falsevalue="" checked="false" |
412 </when> | 398 label="Output all alleles which pass input filters, regardles of genotyping outcome or model" /> |
413 <when value="do_not_set" /><!-- do nothing --> | 399 </when> |
400 <when value="do_not_set" /> | |
414 </conditional> | 401 </conditional> |
415 | 402 |
416 <!-- reference allele --> | 403 <!-- reference allele --> |
417 <conditional name="reference_allele"> | 404 <conditional name="reference_allele"> |
418 <param name="reference_allele_selector" type="select" label="Reference allele options" | 405 <param name="reference_allele_selector" type="select" label="Reference allele options" |
419 help="Sets --use-reference-allele and --reference-quality options."> | 406 help="Sets --use-reference-allele and --reference-quality options"> |
420 <option value="do_not_set" selected="true">Use defaults</option> | 407 <option value="do_not_set" selected="true">Use defaults</option> |
421 <option value="set">Set reference allele options</option> | 408 <option value="set">Set reference allele options</option> |
422 </param> | 409 </param> |
423 <when value="set"> | 410 <when value="set"> |
424 <param name="Z" type="boolean" truevalue="-Z" falsevalue="" checked="False" label="Include the reference allele in the analysis as if it is another sample from the same population" | 411 <param name="Z" argument="--use-reference-allele" type="boolean" truevalue="-Z" falsevalue="" checked="false" |
425 help="default=False" argument="--use-reference-allele" /> | 412 label="Include the reference allele in the analysis as if it is another sample from the same population" /> |
426 <param name="reference_quality" type="text" value="100,60" label="Assign mapping quality of MQ (100) to the reference allele at each site and base quality of BQ (60)" | 413 <param name="reference_quality" argument="--reference-quality" type="text" value="100,60" |
427 help="default=100,60" argument="--reference-quality" /> | 414 label="Assign mapping quality of MQ (100) to the reference allele at each site and base quality of BQ (60)" /> |
428 </when> | 415 </when> |
429 <when value="do_not_set" /><!-- do nothing --> | 416 <when value="do_not_set" /> |
430 </conditional> | 417 </conditional> |
431 | 418 |
432 <!-- allelic scope --> | 419 <!-- allelic scope --> |
433 <conditional name="allele_scope"> | 420 <conditional name="allele_scope"> |
434 <param name="allele_scope_selector" type="select" label="Allelic scope options" | 421 <param name="allele_scope_selector" type="select" label="Allelic scope options" |
435 help="Sets -I, i, -X, -u, -n, --haplotype-length, --min-repeat-size, --min-repeat-entropy, and --no-partial-observations options."> | 422 help="Sets -I, i, -X, -u, -n, --haplotype-length, --min-repeat-size, --min-repeat-entropy, and --no-partial-observations options"> |
436 <option value="do_not_set" selected="true">Use defaults</option> | 423 <option value="do_not_set" selected="true">Use defaults</option> |
437 <option value="set">Set alleic scope options</option> | 424 <option value="set">Set alleic scope options</option> |
438 </param> | 425 </param> |
439 <when value="set"> | 426 <when value="set"> |
440 <param name="I" type="boolean" truevalue="-I" falsevalue="" checked="False" label="Ignore SNP alleles" | 427 <param name="I" argument="--no-snps" type="boolean" truevalue="-I" falsevalue="" checked="false" |
441 help="default=False" argument="--no-snps" /> | 428 label="Ignore SNP alleles" /> |
442 <param name="i" type="boolean" truevalue="-i" falsevalue="" checked="False" label="Ignore indels alleles" | 429 <param name="i" argument="--no-indels" type="boolean" truevalue="-i" falsevalue="" checked="false" |
443 help="default=False" argument="--no-indels" /> | 430 label="Ignore indels alleles" /> |
444 <param name="X" type="boolean" truevalue="-X" falsevalue="" checked="False" label="Ignore multi-nucleotide polymorphisms, MNPs" | 431 <param name="X" argument="--no-mnps" type="boolean" truevalue="-X" falsevalue="" checked="false" |
445 help="default=False" argument="--no-mnps" /> | 432 label="Ignore multi-nucleotide polymorphisms, MNPs" /> |
446 <param name="u" type="boolean" truevalue="-u" falsevalue="" checked="False" label="Ignore complex events (composites of other classes)." | 433 <param name="u" argument="--no-complex" type="boolean" truevalue="-u" falsevalue="" checked="false" |
447 help="default=False" argument="--no-complex" /> | 434 label="Ignore complex events (composites of other classes)" /> |
448 <param name="n" type="integer" value="0" label="How many best SNP alleles to evaluate" | 435 <param name="n" argument="--use-best-n-alleles" type="integer" value="0" |
449 help="Alleles are ranked by the sum of supporting quality scores. Set to 0 to evaluate all. [default=0 (all)]" | 436 label="How many best SNP alleles to evaluate" |
450 argument="--use-best-n-alleles" /> | 437 help="Alleles are ranked by the sum of supporting quality scores. Set to 0 to evaluate all" /> |
451 <param name="haplotype_length" type="integer" value="3" label="Allow haplotype calls with contiguous embedded matches of up to (nucleotides)" | 438 <param name="haplotype_length" argument="--haplotype-length" type="integer" value="3" |
452 help="-E --max-complex-gap --haplotype-length; default=3." /> | 439 label="Allow haplotype calls with contiguous embedded matches of up to (nucleotides)" /> |
453 <param name="min_repeat_length" type="integer" value="5" label="When assembling observations across repeats, require the total repeat length at least this many bp" | 440 <param name="min_repeat_length" argument="--min-repeat-size" type="integer" value="5" |
454 help="default=5." argument="--min-repeat-size" /> | 441 label="When assembling observations across repeats, require the total repeat length at least this many bp" /> |
455 <param name="min_repeat_entropy" type="integer" value="0" label="To detect interrupted repeats, build across sequence until it has entropy > (bits per bp)" | 442 <param name="min_repeat_entropy" argument="--min-repeat-entropy" type="integer" value="0" |
456 help="default=0 (off)." argument="--min-repeat-entropy" /> | 443 label="To detect interrupted repeats, build across sequence until it has entropy > (bits per bp)" /> |
457 <param name="no_partial_observations" type="boolean" truevalue="--no-partial-observations" falsevalue="" checked="False" | 444 <param name="no_partial_observations" argument="--no-partial-observations" type="boolean" truevalue="--no-partial-observations" falsevalue="" checked="false" |
458 label="Exclude observations which do not fully span the dynamically-determined detection window" | 445 label="Exclude observations which do not fully span the dynamically-determined detection window" |
459 help="default=use all observations, dividing partial support across matching haplotypes when generating haplotypes." | 446 help="By default, FreeBayes uses all observations, dividing partial support across matching haplotypes when generating haplotypes" /> |
460 argument="--no-partial-observations" /> | 447 </when> |
461 </when> | 448 <when value="do_not_set" /> |
462 <when value="do_not_set" /><!-- do nothing --> | |
463 </conditional> | 449 </conditional> |
464 | 450 |
465 <!-- indel realignment --> | 451 <!-- indel realignment --> |
466 <param name="O" type="boolean" truevalue="-O" falsevalue="" checked="False" label="Turn off left-alignment of indels" | 452 <param name="O" argument="--dont-left-align-indels" type="boolean" truevalue="-O" falsevalue="" checked="false" |
467 help="default=False (do left align)." argument="--dont-left-align-indels" /> | 453 label="Turn off left-alignment of indels" /> |
468 | 454 |
469 <!-- input filters --> | 455 <!-- input filters --> |
470 <conditional name="input_filters"> | 456 <conditional name="input_filters"> |
471 <param name="input_filters_selector" type="select" label="Input filters" | 457 <param name="input_filters_selector" type="select" label="Input filters" |
472 help="Sets -4, -m, -q, -R, -Y, -Q, -U, -z, -$, -e, -0, -F, -C, -3, -G, and -! options."> | 458 help="Sets -4, -m, -q, -R, -Y, -Q, -U, -z, -$, -e, -0, -F, -C, -3, -G, and -! options"> |
473 <option value="do_not_set" selected="true">No input filters (default)</option> | 459 <option value="do_not_set" selected="true">No input filters (default)</option> |
474 <option value="set">Set input filters</option> | 460 <option value="set">Set input filters</option> |
475 </param> | 461 </param> |
476 <when value="set"> | 462 <when value="set"> |
477 <param name="use_duplicate_reads" type="boolean" truevalue="--use-duplicate-reads" falsevalue="" checked="False" | 463 <param name="use_duplicate_reads" argument="--use-duplicate-reads" type="boolean" truevalue="--use-duplicate-reads" falsevalue="" checked="false" |
478 label="Include duplicate-marked alignments in the analysis." | 464 label="Include duplicate-marked alignments in the analysis" /> |
479 help="default=False (exclude duplicates marked as such in alignments)." argument="--use-duplicate-reads" /> | 465 <param name="m" argument="--min-mapping-quality" type="integer" value="1" |
480 <param name="m" type="integer" value="1" label="Exclude alignments from analysis if they have a mapping quality less than" | 466 label="Exclude alignments from analysis if they have a mapping quality less than" /> |
481 help="default=1" argument="--min-mapping-quality" /> | 467 <param name="q" argument="--min-base-quality" type="integer" value="0" |
482 <param name="q" type="integer" value="0" label="Exclude alleles from analysis if their supporting base quality less than" | 468 label="Exclude alleles from analysis if their supporting base quality less than" /> |
483 help="default=0" argument="--min-base-quality" /> | 469 <param name="R" argument="--min-supporting-allele-qsum" type="integer" value="0" |
484 <param name="R" type="integer" value="0" label="Consider any allele in which the sum of qualities of supporting observations is at least" | 470 label="Consider any allele in which the sum of qualities of supporting observations is at least" /> |
485 help="default=0" argument="--min-supporting-allele-qsum" /> | 471 <param name="Y" argument="--min-supporting-mapping-qsum" type="integer" value="0" |
486 <param name="Y" type="integer" value="0" label="Consider any allele in which and the sum of mapping qualities of supporting reads is at least" | 472 label="Consider any allele in which and the sum of mapping qualities of supporting reads is at least" /> |
487 help="default=0" argument="--min-supporting-mapping-qsum" /> | |
488 <conditional name="mismatch_filters"> | 473 <conditional name="mismatch_filters"> |
489 <param name="mismatch_filters_selector" type="select" label="Mismatch filters" | 474 <param name="mismatch_filters_selector" type="select" label="Mismatch filters" |
490 help="Sets -Q, -U, -z, and $ options"> | 475 help="Sets -Q, -U, -z, and $ options"> |
491 <option value="do_not_set" selected="true">No mismatch filters (default)</option> | 476 <option value="do_not_set" selected="true">No mismatch filters (default)</option> |
492 <option value="set">Set mismatch filters</option> | 477 <option value="set">Set mismatch filters</option> |
493 </param> | 478 </param> |
494 <when value="set"> | 479 <when value="set"> |
495 <param name="Q" type="integer" value="10" | 480 <param name="Q" argument="--mismatch-base-quality-threshold" type="integer" value="10" |
496 label="Count mismatches toward -U (option below) if the base quality of the mismatch is >=" | 481 label="Count mismatches toward -U (option below) if the base quality of the mismatch is >=" /> |
497 help="default=10" argument="--mismatch-base-quality-threshold" /> | 482 <param name="U" type="integer" argument="--read-mismatch-limit" value="1000" optional="true" |
498 <param name="U" type="integer" value="1000" optional="True" | 483 label="Exclude reads with more than N mismatches where each mismatch has base quality >= mismatch-base-quality-threshold (option above)" |
499 label="Exclude reads with more than N mismatches where each mismatch has base quality >= Q (option above)" | 484 help="default=~unbounded" /> |
500 help="default=~unbound" argument="--read-mismatch-limit" /> | 485 <param name="z" argument="--read-max-mismatch-fraction" type="float" value="1.0" min="0.0" max="1.0" |
501 <param name="z" type="float" value="1.0" min="0.0" max="1.0" | 486 label="Exclude reads with more than N [0,1] fraction of mismatches where each mismatch has base quality >= mismatch-base-quality-threshold (second option above)" /> |
502 label="Exclude reads with more than N [0,1] fraction of mismatches where each mismatch has base quality >= Q (second option above)" | 487 <param name="read_snp_limit" argument="--read-snp-limit" type="integer" value="1000" |
503 help="default=1.0" argument="--read-max-mismatch-fraction" /> | 488 label="Exclude reads with more than N base mismatches, ignoring gaps with quality >= mismatch-base-quality-threshold (third option above)" |
504 <param name="read_snp_limit" type="integer" | 489 help="default=~unbounded" /> |
505 value="1000" label="Exclude reads with more than N base mismatches, ignoring gaps with quality >= Q (third option abobe)" | |
506 argument="--read-snp-limit" /> | |
507 </when> | 490 </when> |
508 <when value="do_not_set" /><!-- do nothing --> | 491 <when value="do_not_set" /> |
509 </conditional> | 492 </conditional> |
510 <param name="e" type="integer" value="1000" label="Exclude reads with more than this number of separate gaps" | 493 <param name="e" argument="--read-indel-limit" type="integer" value="1000" |
511 help="default=~unbounded" argument="--read-snp-limit" /> | 494 label="Exclude reads with more than this number of separate gaps" |
512 <param name="standard_filters" type="boolean" truevalue="-0" falsevalue="" checked="False" | 495 help="default=~unbounded" /> |
496 <param name="standard_filters" argument="--standard-filters" type="boolean" truevalue="-0" falsevalue="" checked="false" | |
513 label="Use stringent input base and mapping quality filters" | 497 label="Use stringent input base and mapping quality filters" |
514 help="default=False. Equivalent to -m 30 -q 20 -R 0 -S 0" argument="--standard-filters"/> | 498 help="Equivalent to -m 30 -q 20 -R 0 -S 0" /> |
515 <param name="F" type="float" value="0.2" | 499 <param name="F" argument="--min-alternate-fraction" type="float" value="0.2" |
516 label="Require at least this fraction of observations supporting an alternate allele within a single individual in the in order to evaluate the position" | 500 label="Require at least this fraction of observations supporting an alternate allele within a single individual in the in order to evaluate the position" /> |
517 help="default=0.2" argument="--min-alternate-fraction" /> | 501 <param name="C" argument="--min-alternate-count" type="integer" value="2" |
518 <param name="C" type="integer" value="2" | 502 label="Require at least this count of observations supporting an alternate allele within a single individual in order to evaluate the position" /> |
519 label="Require at least this count of observations supporting an alternate allele within a single individual in order to evaluate the position" | 503 <param name="min_alternate_qsum" argument="--min-alternate-qsum" type="integer" value="0" |
520 help="default=2" argument="--min-alternate-count" /> | 504 label="Require at least this sum of quality of observations supporting an alternate allele within a single individual in order to evaluate the position" /> |
521 <param name="min_alternate_qsum" type="integer" value="0" | 505 <param name="G" argument="--min-alternate-total" type="integer" value="1" |
522 label="Require at least this sum of quality of observations supporting an alternate allele within a single individual in order to evaluate the position" | 506 label="Require at least this count of observations supporting an alternate allele within the total population in order to use the allele in analysis" /> |
523 help="default=0" argument="--min-alternate-qsum" /> | |
524 <param name="G" type="integer" value="1" | |
525 label="Require at least this count of observations supporting an alternate allele within the total population in order to use the allele in analysis" | |
526 help="default=1" argument="--min-alternate-total" /> | |
527 <expand macro="par_min_cov" /> | 507 <expand macro="par_min_cov" /> |
528 </when> | 508 </when> |
529 <when value="do_not_set" /><!-- do nothing --> | 509 <when value="do_not_set" /> |
530 </conditional> | 510 </conditional> |
531 | 511 |
532 <!-- population and mappability priors --> | 512 <!-- population and mappability priors --> |
533 <conditional name="population_mappability_priors"> | 513 <conditional name="population_mappability_priors"> |
534 <param name="population_mappability_priors_selector" type="select" label="Population and mappability priors" | 514 <param name="population_mappability_priors_selector" type="select" label="Population and mappability priors" |
535 help="Sets -k, -w, -V, and -a options."> | 515 help="Sets -k, -w, -V, and -a options"> |
536 <option value="do_not_set" selected="true">Use defaults</option> | 516 <option value="do_not_set" selected="true">Use defaults</option> |
537 <option value="set">Set population and mappability priors</option> | 517 <option value="set">Set population and mappability priors</option> |
538 </param> | 518 </param> |
539 <when value="set"> | 519 <when value="set"> |
540 <param name="k" type="boolean" truevalue="-k" falsevalue="" checked="False" label="No population priors" | 520 <param name="k" argument="--no-population-priors" type="boolean" truevalue="-k" falsevalue="" checked="false" |
541 help="default=False. Equivalent to --pooled-discrete --hwe-priors-off and removal of Ewens Sampling Formula component of priors." | 521 label="No population priors" |
542 argument="--no-population-priors" /> | 522 help="Equivalent to --pooled-discrete --hwe-priors-off and removal of Ewens Sampling Formula component of priors" /> |
543 <param name="w" type="boolean" truevalue="-w" falsevalue="" checked="False" | 523 <param name="w" argument="--hwe-priors-off" type="boolean" truevalue="-w" falsevalue="" checked="false" |
544 label="Disable estimation of the probability of the combination arising under HWE given the allele frequency as estimated by observation frequency" | 524 label="Disable estimation of the probability of the combination arising under HWE given the allele frequency as estimated by observation frequency" /> |
545 help="default=False" argument="--hwe-priors-off" /> | 525 <param name="V" argument="--binomial-obs-priors-off" type="boolean" truevalue="-V" falsevalue="" checked="false" |
546 <param name="V" type="boolean" truevalue="-V" falsevalue="" checked="False" label="Disable incorporation of prior expectations about observations" | 526 label="Disable incorporation of prior expectations about observations" |
547 help="default=False. Uses read placement probability, strand balance probability, and read position (5''-3'') probability." | 527 help="Uses read placement probability, strand balance probability, and read position (5''-3'') probability" /> |
548 argument="--binomial-obs-priors-off" /> | 528 <param name="a" argument="--allele-balance-priors-off" type="boolean" truevalue="-a" falsevalue="" checked="false" |
549 <param name="a" type="boolean" truevalue="-a" falsevalue="" checked="False" | 529 label="Disable use of aggregate probability of observation balance between alleles as a component of the priors" /> |
550 label="Disable use of aggregate probability of observation balance between alleles as a component of the priors" | 530 </when> |
551 help="default=False" | 531 <when value="do_not_set" /> |
552 argument="--allele-balance-priors-off" /> | |
553 </when> | |
554 <when value="do_not_set" /><!-- do nothing --> | |
555 </conditional> | 532 </conditional> |
556 | 533 |
557 <!-- genotype likelihoods --> | 534 <!-- genotype likelihoods --> |
558 <conditional name="genotype_likelihoods"> | 535 <conditional name="genotype_likelihoods"> |
559 <param name="genotype_likelihoods_selector" type="select" label="Genotype likelihood options" | 536 <param name="genotype_likelihoods_selector" type="select" label="Genotype likelihood options" |
560 help="Sets --base-quality-cap, --experimental-gls, and --prob-contamination options."> | 537 help="Sets --base-quality-cap, --experimental-gls, and --prob-contamination options"> |
561 <option value="do_not_set" selected="true">Use defaults</option> | 538 <option value="do_not_set" selected="true">Use defaults</option> |
562 <option value="set">Set genotype likelihood options</option> | 539 <option value="set">Set genotype likelihood options</option> |
563 </param> | 540 </param> |
564 <when value="set"> | 541 <when value="set"> |
565 <param name="base_quality_cap" type="integer" value="0" label="Limit estimated observation quality by capping base quality at" | 542 <param name="base_quality_cap" argument="--base-quality-cap" type="integer" value="0" |
566 argument="--base-quality-cap" /> | 543 label="Limit estimated observation quality by capping base quality at" /> |
567 <param name="experimental_gls" type="boolean" truevalue="--experimental-gls" falsevalue="" checked="False" | 544 <param name="experimental_gls" argument="--experimental-gls" type="boolean" truevalue="--experimental-gls" falsevalue="" checked="false" |
568 label="Generate genotype likelihoods using 'effective base depth' metric qual = 1-BaseQual * 1-MapQual" | 545 label="Generate genotype likelihoods using 'effective base depth' metric qual = 1-BaseQual * 1-MapQual" |
569 help="Incorporate partial observations. This is the default when contamination estimates are provided. Optimized for diploid samples." | 546 help="Incorporate partial observations. This is the default when contamination estimates are provided. Optimized for diploid samples" /> |
570 argument="--experimental-gls" /> | 547 <param name="prob_contamination" argument="--prob-contamination" type="float" value="10e-9" |
571 <param name="prob_contamination" type="float" value="10e-9" label="An estimate of contamination to use for all samples" | 548 label="An estimate of contamination to use for all samples" /> |
572 help="default=10e-9." argument="--prob-contamination" /> | 549 </when> |
573 </when> | 550 <when value="do_not_set" /> |
574 <when value="do_not_set" /><!-- do nothing --> | |
575 </conditional> | 551 </conditional> |
576 | 552 |
577 <!-- algorithmic features --> | 553 <!-- algorithmic features --> |
578 <conditional name="algorithmic_features"> | 554 <conditional name="algorithmic_features"> |
579 <param name="algorithmic_features_selector" type="select" label="Algorithmic features" | 555 <param name="algorithmic_features_selector" type="select" label="Algorithmic features" |
580 help="Sets --report-genotypes-likelihood-max, -B, --genotyping-max-banddepth, -W, -N, S, -j, -H, -D, -= options"> | 556 help="Sets --report-genotypes-likelihood-max, -B, --genotyping-max-banddepth, -W, -N, S, -j, -H, -D, -= options"> |
581 <option value="do_not_set" selected="true">Use defaults</option> | 557 <option value="do_not_set" selected="true">Use defaults</option> |
582 <option value="set">Set algorithmic features</option> | 558 <option value="set">Set algorithmic features</option> |
583 </param> | 559 </param> |
584 <when value="set"> | 560 <when value="set"> |
585 <param name="report_genotype_likelihood_max" type="boolean" truevalue="--report-genotype-likelihood-max" falsevalue="" checked="False" | 561 <param name="report_genotype_likelihood_max" argument="--report-genotype-likelihood-max" type="boolean" truevalue="--report-genotype-likelihood-max" falsevalue="" checked="false" |
586 label="Report genotypes using the maximum-likelihood estimate provided from genotype likelihoods." | 562 label="Report genotypes using the maximum-likelihood estimate provided from genotype likelihoods" /> |
587 help="default=False" argument="--report-genotype-likelihood-max" /> | 563 <param name="B" argument="--genotyping-max-iterations" type="integer" value="1000" |
588 <param name="B" type="integer" value="1000" label="Iterate no more than N times during genotyping step" | 564 label="Iterate no more than N times during genotyping step" /> |
589 help="default=1000." argument="--genotyping-max-iterations" /> | 565 <param name="genotyping_max_banddepth" argument="--genotyping-max-banddepth" type="integer" value="6" |
590 <param name="genotyping_max_banddepth" type="integer" value="6" label="Integrate no deeper than the Nth best genotype by likelihood when genotyping" | 566 label="Integrate no deeper than the Nth best genotype by likelihood when genotyping" /> |
591 help="default=6" argument="--genotyping-max-banddepth" /> | 567 <param name="W" argument="--posterior-integration-limits" type="text" value="1,3" |
592 <param name="W" type="text" value="1,3" | 568 label="Integrate all genotype combinations in our posterior space which include no more than N (1) samples with their Mth (3) best data likelihood" /> |
593 label="Integrate all genotype combinations in our posterior space which include no more than N (1) samples with their Mth (3) best data likelihood" | 569 <param name="N" argument="--exclude-unobserved-genotypes" type="boolean" truevalue="--exclude-unobserved-genotypes" falsevalue="" checked="false" |
594 help="default=1,3" argument="--posterior-integration-limits" /> | 570 label="Skip sample genotypings for which the sample has no supporting reads" /> |
595 <param name="N" type="boolean" truevalue="--exclude-unobserved-genotypes" falsevalue="" checked="False" | 571 <param name="genotype_variant_threshold" argument="--genotype-variant-threshold" type="integer" value="" optional="true" |
596 label="Skip sample genotypings for which the sample has no supporting reads" | 572 label="Limit posterior integration to samples where the second-best genotype likelihood is no more than log(N) from the highest genotype likelihood for the sample" |
597 help="default=False" argument="--exclude-unobserved-genotypes" /> | 573 help="default=~unbounded" /> |
598 <conditional name="genotype_variant_threshold"> | 574 <param name="j" argument="--use-mapping-quality" type="boolean" truevalue="-j" falsevalue="" checked="false" |
599 <param name="genotype_variant_threshold_selector" type="select" | 575 label="Use mapping quality of alleles when calculating data likelihoods" /> |
600 label="Limit posterior integration" argument="--genotype-variant-threshold"> | 576 <param name="H" argument="--harmonic-indel-quality" type="boolean" truevalue="-H" falsevalue="" checked="false" |
601 <option value="do_not_set" selected="true">Do not limit posterior integration</option> | |
602 <option value="set">Set posterior integration limit</option> | |
603 </param> | |
604 <when value="do_not_set" /><!-- do nothing --> | |
605 <when value="set"> | |
606 <param name="S" value="" type="integer" | |
607 label="Limit posterior integration to samples where the second-best genotype likelihood is no more than log(N) from the highest genotype likelihood for the sample." | |
608 help="default=~unbounded" argument="--genotype-variant-threshold" /> | |
609 </when> | |
610 </conditional> | |
611 <param name="j" type="boolean" truevalue="-j" falsevalue="" checked="False" | |
612 label="Use mapping quality of alleles when calculating data likelihoods" | |
613 help="default=False" argument="--use-mapping-quality" /> | |
614 <param name="H" type="boolean" truevalue="-H" falsevalue="" checked="False" | |
615 label="Use a weighted sum of base qualities around an indel, scaled by the distance from the indel" | 577 label="Use a weighted sum of base qualities around an indel, scaled by the distance from the indel" |
616 help="default=use a minimum Base Quality in flanking sequence." argument="--harmonic-indel-quality" /> | 578 help="By default, FreeBayes uses a minimum Base Quality in flanking sequence" /> |
617 <param name="D" type="float" value="0.9" label="Incorporate non-independence of reads by scaling successive observations by this factor during data likelihood calculations" | 579 <param name="D" argument="--read-dependence-factor" type="float" value="0.9" |
618 help="default=0.9." argument="--read-dependence-factor" /> | 580 label="Incorporate non-independence of reads by scaling successive observations by this factor during data likelihood calculations" /> |
619 <param name="genotype_qualities" type="boolean" truevalue="--genotype-qualities" falsevalue="" checked="False" | 581 <param name="genotype_qualities" argument="--genotype-qualities" type="boolean" truevalue="--genotype-qualities" falsevalue="" checked="false" |
620 label="Calculate the marginal probability of genotypes and report as GQ in each sample field in the VCF output" | 582 label="Calculate the marginal probability of genotypes and report as GQ in each sample field in the VCF output" /> |
621 help="-= --genotype-qualities; default=False " /> | 583 </when> |
622 </when> | 584 <when value="do_not_set" /> |
623 <when value="do_not_set" /><!-- do nothing --> | 585 </conditional> |
624 </conditional> | 586 </when> |
625 </when> | 587 <when value="simple" /> |
626 <when value="simple" /><!-- do nothing --> | |
627 <when value="simple_w_filters"> | 588 <when value="simple_w_filters"> |
628 <!-- add standard-filters to command line --> | 589 <!-- add standard-filters to command line --> |
629 <expand macro="par_min_cov" /> | 590 <expand macro="par_min_cov" /> |
630 </when> | 591 </when> |
631 <when value="naive"> | 592 <when value="naive"> |
632 <!-- do nothing build command line using haplotype-length 0 min-alternate-count 1 min-alternate-fraction 0 pooled-continuous report-monomorphic --> | 593 <!-- build command line using haplotype-length 0 min-alternate-count 1 min-alternate-fraction 0 pooled-continuous report-monomorphic --> |
633 </when> | 594 </when> |
634 <when value="naive_w_filters"> | 595 <when value="naive_w_filters"> |
635 <!-- do nothing build command line using haplotype-length 0 min-alternate-count 1 min-alternate-fraction 0 pooled-continuous report-monomorphic standard-filters--> | 596 <!-- build command line using haplotype-length 0 min-alternate-count 1 min-alternate-fraction 0 pooled-continuous report-monomorphic standard-filters--> |
636 <expand macro="par_min_cov" /> | 597 <expand macro="par_min_cov" /> |
637 </when> | 598 </when> |
638 </conditional> | 599 </conditional> |
639 </inputs> | 600 </inputs> |
640 <outputs> | 601 <outputs> |
693 | 654 |
694 ------ | 655 ------ |
695 | 656 |
696 **Description** | 657 **Description** |
697 | 658 |
698 Privided BAM file(s) and a reference. FreeBayes will provide VCF output on standard out describing SNPs, indels, and complex variants in samples in the input alignments. | 659 Provided some BAM dataset(s) and a reference sequence, FreeBayes will produce a VCF dataset describing SNPs, indels, and complex variants in samples in the input alignments. |
699 | 660 |
700 By default, FreeBayes will consider variants supported by at least 2 observations in a single sample (-C) and also by at least 20% of the reads from a single sample (-F). These settings are suitable to low to high depth sequencing in haploid and diploid samples, but users working with polyploid or pooled samples may wish to adjust them depending on the characteristics of their sequencing data. | 661 By default, FreeBayes will consider variants supported by at least 2 observations in a single sample (-C) and also by at least 20% of the reads from a single sample (-F). These settings are suitable to low to high depth sequencing in haploid and diploid samples, but users working with polyploid or pooled samples may wish to adjust them depending on the characteristics of their sequencing data. |
701 | 662 |
702 FreeBayes is capable of calling variant haplotypes shorter than a read length where multiple polymorphisms segregate on the same read. The maximum distance between polymorphisms phased in this way is determined by the --max-complex-gap, which defaults to 3bp. In practice, this can comfortably be set to half the read length. | 663 FreeBayes is capable of calling variant haplotypes shorter than a read length where multiple polymorphisms segregate on the same read. The maximum distance between polymorphisms phased in this way is determined by the --max-complex-gap, which defaults to 3bp. In practice, this can comfortably be set to half the read length. |
703 | 664 |
707 | 668 |
708 ------- | 669 ------- |
709 | 670 |
710 **Galaxy-specific options** | 671 **Galaxy-specific options** |
711 | 672 |
712 Galaxy allows five levels of control over FreeBayes options provided by **Choose parameter selection level** menu option. These are: | 673 Galaxy allows five levels of control over FreeBayes options, provided by the **Choose parameter selection level** menu option. These are: |
713 | 674 |
714 1. *Simple diploid calling*: The simples possible FreeBayes application. Equvalent of using FreeBayes with only a BAM input and no other parameter options. | 675 1. *Simple diploid calling*: The simplest possible FreeBayes application. Equivalent to using FreeBayes with only a BAM input and no other parameter options. |
715 2. *Simple diploid calling with filtering and coverage*: Same as #1 plus two additional options: -0 (standard filters: --min-mapping-quality 30 --min-base-quality 20 --min-supporting-allele-qsum 0 --genotype-varinat-threshold 0) and --min-coverage. | 676 2. *Simple diploid calling with filtering and coverage*: Same as #1 plus two additional options: -0 (standard filters: --min-mapping-quality 30 --min-base-quality 20 --min-supporting-allele-qsum 0 --genotype-variant-threshold 0) and --min-coverage. |
716 3. *Frequency-based pooled calling*: This is equivalent to using FreeBayes with the following options: --haplotype-length 0 --min-alternate-count 1 --min-alternate-fraction 0 --pooled-continuous --report-monomorphic. This is the best choice for calling varinats in mixtures such as viral, bacterial, or organellar genomes. | 677 3. *Frequency-based pooled calling*: This is equivalent to using FreeBayes with the following options: --haplotype-length 0 --min-alternate-count 1 --min-alternate-fraction 0 --pooled-continuous --report-monomorphic. This is the best choice for calling variants in mixtures such as viral, bacterial, or organellar genomes. |
717 4. *Frequency-based pooled calling with filtering and coverage*: Same as #3 but adds -0 and --min-coverage like in #2. | 678 4. *Frequency-based pooled calling with filtering and coverage*: Same as #3 but adds -0 and --min-coverage like in #2. |
718 5. *Complete list of all options*: Gives you full control by exposing all FreeBayes options as Galaxy widgets. | 679 5. *Complete list of all options*: Gives you full control by exposing all FreeBayes options as Galaxy parameters. |
719 | |
720 ----- | |
721 | |
722 **FreeBayes options** | |
723 | |
724 .. class:: infomark | |
725 | |
726 Note that each Galaxy parameter widget corresponding to command line flags listed below: | |
727 | |
728 Input and output:: | |
729 | |
730 -t --targets FILE | |
731 Limit analysis to targets listed in the BED-format FILE. | |
732 -r --region chrom:start_position-end_position | |
733 Limit analysis to the specified region, 0-base coordinates, | |
734 end_position included. Either '-' or '..' maybe used as a separator. | |
735 -s --samples FILE | |
736 Limit analysis to samples listed (one per line) in the FILE. | |
737 By default FreeBayes will analyze all samples in its input | |
738 BAM files. | |
739 --populations FILE | |
740 Each line of FILE should list a sample and a population which | |
741 it is part of. The population-based bayesian inference model | |
742 will then be partitioned on the basis of the populations. | |
743 -A --cnv-map FILE | |
744 Read a copy number map from the BED file FILE, which has | |
745 the format: | |
746 reference sequence, start, end, sample name, copy number | |
747 ... for each region in each sample which does not have the | |
748 default copy number as set by --ploidy. | |
749 --trace FILE Output an algorithmic trace to FILE. | |
750 --failed-alleles FILE | |
751 Write a BED file of the analyzed positions which do not | |
752 pass --pvar to FILE. | |
753 -@ --variant-input VCF | |
754 Use variants reported in VCF file as input to the algorithm. | |
755 Variants in this file will be treated as putative variants | |
756 even if there is not enough support in the data to pass | |
757 input filters. | |
758 -l --only-use-input-alleles | |
759 Only provide variant calls and genotype likelihoods for sites | |
760 and alleles which are provided in the VCF input, and provide | |
761 output in the VCF for all input alleles, not just those which | |
762 have support in the data. | |
763 --haplotype-basis-alleles VCF | |
764 When specified, only variant alleles provided in this input | |
765 VCF will be used for the construction of complex or haplotype | |
766 alleles. | |
767 --report-all-haplotype-alleles | |
768 At sites where genotypes are made over haplotype alleles, | |
769 provide information about all alleles in output, not only | |
770 those which are called. | |
771 --report-monomorphic | |
772 Report even loci which appear to be monomorphic, and report all | |
773 considered alleles, even those which are not in called genotypes. | |
774 Loci which do not have any potential alternates have '.' for ALT. | |
775 | |
776 Reporting:: | |
777 | |
778 -P --pvar N Report sites if the probability that there is a polymorphism | |
779 at the site is greater than N. default: 0.0. Note that post- | |
780 filtering is generally recommended over the use of this parameter. | |
781 | |
782 Population model:: | |
783 | |
784 -T --theta N The expected mutation rate or pairwise nucleotide diversity | |
785 among the population under analysis. This serves as the | |
786 single parameter to the Ewens Sampling Formula prior model | |
787 default: 0.001 | |
788 -p --ploidy N Sets the default ploidy for the analysis to N. default: 2 | |
789 -J --pooled-discrete | |
790 Assume that samples result from pooled sequencing. | |
791 Model pooled samples using discrete genotypes across pools. | |
792 When using this flag, set --ploidy to the number of | |
793 alleles in each sample or use the --cnv-map to define | |
794 per-sample ploidy. | |
795 -K --pooled-continuous | |
796 Output all alleles which pass input filters, regardles of | |
797 genotyping outcome or model. | |
798 | |
799 Reference allele:: | |
800 | |
801 -Z --use-reference-allele | |
802 This flag includes the reference allele in the analysis as | |
803 if it is another sample from the same population. | |
804 --reference-quality MQ,BQ | |
805 Assign mapping quality of MQ to the reference allele at each | |
806 site and base quality of BQ. default: 100,60 | |
807 | |
808 Allele scope:: | |
809 | |
810 -I --no-snps Ignore SNP alleles. | |
811 -i --no-indels Ignore insertion and deletion alleles. | |
812 -X --no-mnps Ignore multi-nuceotide polymorphisms, MNPs. | |
813 -u --no-complex Ignore complex events (composites of other classes). | |
814 -n --use-best-n-alleles N | |
815 Evaluate only the best N SNP alleles, ranked by sum of | |
816 supporting quality scores. (Set to 0 to use all; default: all) | |
817 -E --max-complex-gap N | |
818 --haplotype-length N | |
819 Allow haplotype calls with contiguous embedded matches of up | |
820 to this length. (default: 3) | |
821 --min-repeat-size N | |
822 When assembling observations across repeats, require the total repeat | |
823 length at least this many bp. (default: 5) | |
824 --min-repeat-entropy N | |
825 To detect interrupted repeats, build across sequence until it has | |
826 entropy > N bits per bp. (default: 0, off) | |
827 --no-partial-observations | |
828 Exclude observations which do not fully span the dynamically-determined | |
829 detection window. (default, use all observations, dividing partial | |
830 support across matching haplotypes when generating haplotypes.) | |
831 | |
832 Indel realignment:: | |
833 | |
834 -O --dont-left-align-indels | |
835 Turn off left-alignment of indels, which is enabled by default. | |
836 | |
837 Input filters:: | |
838 | |
839 -4 --use-duplicate-reads | |
840 Include duplicate-marked alignments in the analysis. | |
841 default: exclude duplicates marked as such in alignments | |
842 -m --min-mapping-quality Q | |
843 Exclude alignments from analysis if they have a mapping | |
844 quality less than Q. default: 1 | |
845 -q --min-base-quality Q | |
846 Exclude alleles from analysis if their supporting base | |
847 quality is less than Q. default: 0 | |
848 -R --min-supporting-allele-qsum Q | |
849 Consider any allele in which the sum of qualities of supporting | |
850 observations is at least Q. default: 0 | |
851 -Y --min-supporting-mapping-qsum Q | |
852 Consider any allele in which and the sum of mapping qualities of | |
853 supporting reads is at least Q. default: 0 | |
854 -Q --mismatch-base-quality-threshold Q | |
855 Count mismatches toward --read-mismatch-limit if the base | |
856 quality of the mismatch is >= Q. default: 10 | |
857 -U --read-mismatch-limit N | |
858 Exclude reads with more than N mismatches where each mismatch | |
859 has base quality >= mismatch-base-quality-threshold. | |
860 default: ~unbounded | |
861 -z --read-max-mismatch-fraction N | |
862 Exclude reads with more than N [0,1] fraction of mismatches where | |
863 each mismatch has base quality >= mismatch-base-quality-threshold | |
864 default: 1.0 | |
865 -$ --read-snp-limit N | |
866 Exclude reads with more than N base mismatches, ignoring gaps | |
867 with quality >= mismatch-base-quality-threshold. | |
868 default: ~unbounded | |
869 -e --read-indel-limit N | |
870 Exclude reads with more than N separate gaps. | |
871 default: ~unbounded | |
872 -0 --standard-filters Use stringent input base and mapping quality filters | |
873 Equivalent to -m 30 -q 20 -R 0 -S 0 | |
874 -F --min-alternate-fraction N | |
875 Require at least this fraction of observations supporting | |
876 an alternate allele within a single individual in the | |
877 in order to evaluate the position. default: 0.2 | |
878 -C --min-alternate-count N | |
879 Require at least this count of observations supporting | |
880 an alternate allele within a single individual in order | |
881 to evaluate the position. default: 2 | |
882 -3 --min-alternate-qsum N | |
883 Require at least this sum of quality of observations supporting | |
884 an alternate allele within a single individual in order | |
885 to evaluate the position. default: 0 | |
886 -G --min-alternate-total N | |
887 Require at least this count of observations supporting | |
888 an alternate allele within the total population in order | |
889 to use the allele in analysis. default: 1 | |
890 -! --min-coverage N | |
891 Require at least this coverage to process a site. default: 0 | |
892 | |
893 Population priors:: | |
894 | |
895 -k --no-population-priors | |
896 Equivalent to --pooled-discrete --hwe-priors-off and removal of | |
897 Ewens Sampling Formula component of priors. | |
898 | |
899 Mappability priors:: | |
900 | |
901 -w --hwe-priors-off | |
902 Disable estimation of the probability of the combination | |
903 arising under HWE given the allele frequency as estimated | |
904 by observation frequency. | |
905 -V --binomial-obs-priors-off | |
906 Disable incorporation of prior expectations about observations. | |
907 Uses read placement probability, strand balance probability, | |
908 and read position (5'-3') probability. | |
909 -a --allele-balance-priors-off | |
910 Disable use of aggregate probability of observation balance between alleles | |
911 as a component of the priors. | |
912 | |
913 Genotype likelihoods:: | |
914 | |
915 --observation-bias FILE | |
916 Read length-dependent allele observation biases from FILE. | |
917 The format is [length] [alignment efficiency relative to reference] | |
918 where the efficiency is 1 if there is no relative observation bias. | |
919 --base-quality-cap Q | |
920 Limit estimated observation quality by capping base quality at Q. | |
921 --experimental-gls | |
922 Generate genotype likelihoods using 'effective base depth' metric | |
923 qual = 1-BaseQual * 1-MapQual. Incorporate partial observations. | |
924 This is the default when contamination estimates are provided. | |
925 Optimized for diploid samples. | |
926 --prob-contamination F | |
927 An estimate of contamination to use for all samples. default: 10e-9 | |
928 --contamination-estimates FILE | |
929 A file containing per-sample estimates of contamination, such as | |
930 those generated by VerifyBamID. The format should be: | |
931 sample p(read=R|genotype=AR) p(read=A|genotype=AA) | |
932 Sample '*' can be used to set default contamination estimates. | |
933 | |
934 Algorithmic features:: | |
935 | |
936 --report-genotype-likelihood-max | |
937 Report genotypes using the maximum-likelihood estimate provided | |
938 from genotype likelihoods. | |
939 -B --genotyping-max-iterations N | |
940 Iterate no more than N times during genotyping step. default: 1000. | |
941 --genotyping-max-banddepth N | |
942 Integrate no deeper than the Nth best genotype by likelihood when | |
943 genotyping. default: 6. | |
944 -W --posterior-integration-limits N,M | |
945 Integrate all genotype combinations in our posterior space | |
946 which include no more than N samples with their Mth best | |
947 data likelihood. default: 1,3. | |
948 -N --exclude-unobserved-genotypes | |
949 Skip sample genotypings for which the sample has no supporting reads. | |
950 -S --genotype-variant-threshold N | |
951 Limit posterior integration to samples where the second-best | |
952 genotype likelihood is no more than log(N) from the highest | |
953 genotype likelihood for the sample. default: ~unbounded | |
954 -j --use-mapping-quality | |
955 Use mapping quality of alleles when calculating data likelihoods. | |
956 -H --harmonic-indel-quality | |
957 Use a weighted sum of base qualities around an indel, scaled by the | |
958 distance from the indel. By default use a minimum BQ in flanking sequence. | |
959 -D --read-dependence-factor N | |
960 Incorporate non-independence of reads by scaling successive | |
961 observations by this factor during data likelihood | |
962 calculations. default: 0.9 | |
963 -= --genotype-qualities | |
964 Calculate the marginal probability of genotypes and report as GQ in | |
965 each sample field in the VCF output. | |
966 | |
967 | 680 |
968 ------ | 681 ------ |
969 | 682 |
970 **Acknowledgments** | 683 **Acknowledgments** |
971 | 684 |
972 The initial version of the wrapper was produced by Dan Blankenberg and upgraded by Anton Nekrutenko. | 685 The initial version of the wrapper was produced by Dan Blankenberg and upgraded by Anton Nekrutenko. |
973 TNG was developed by Bjoern Gruening | 686 TNG was developed by Bjoern Gruening. |
974 </help> | 687 </help> |
975 <expand macro="citations" /> | 688 <expand macro="citations" /> |
976 </tool> | 689 </tool> |