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comparison testing_cgatools-982e19c29ec0/cgatools/tools/cgatools_1.6/mkvcf.xml @ 0:ef23f9cd599b draft default tip
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| author | devteam |
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| date | Thu, 27 Sep 2012 13:37:59 -0400 |
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| -1:000000000000 | 0:ef23f9cd599b |
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| 1 <tool id="cg_mkvcf" name="mkvcf(beta) 1.6" version="1.0.0"> | |
| 2 <!-- | |
| 3 This tool creates a GUI for the mkvcf function of cgatools from Complete Genomics, Inc. | |
| 4 written 7-31-2012 by bcrain@completegenomics.com | |
| 5 --> | |
| 6 | |
| 7 <description>converts to vcf</description> | |
| 8 | |
| 9 <command interpreter="perl"> | |
| 10 <!--run wrapper script--> | |
| 11 mkvcf_wrapper.pl | |
| 12 --reference $crr.fields.path | |
| 13 --output $output | |
| 14 --genomes $count.genomes | |
| 15 --source $count.sources.source | |
| 16 --datasource $count.sources.data_sources.data_source | |
| 17 #if $count.sources.data_sources.data_source=="in" | |
| 18 #for $m in $count.sources.data_sources.files | |
| 19 --input $m.input | |
| 20 #end for | |
| 21 #else | |
| 22 --input $count.sources.data_sources.input | |
| 23 #end if | |
| 24 #if $count.sources.source=="masterVar" or $count.sources.source=="masterVar,CNV" | |
| 25 $count.sources.nocalls | |
| 26 --calibration $count.sources.calibration | |
| 27 #else if $count.sources.source=="SV" | |
| 28 --jctscore $count.sources.jctscore | |
| 29 --jctside $count.sources.jctside | |
| 30 --jctdistance $count.sources.jctdistance | |
| 31 --jctlength $count.sources.jctlength | |
| 32 $count.sources.jctpriority | |
| 33 $count.sources.jcttumor | |
| 34 #else if $count.sources.source=="masterVar,CNV,SV" or $count.sources.source=="masterVar,CNV,SV,MEI" | |
| 35 $count.sources.nocalls | |
| 36 --calibration $count.sources.calibration | |
| 37 --jctscore $count.sources.jctscore | |
| 38 --jctside $count.sources.jctside | |
| 39 --jctdistance $count.sources.jctdistance | |
| 40 --jctlength $count.sources.jctlength | |
| 41 $count.sources.jctpriority | |
| 42 $count.sources.jcttumor | |
| 43 #end if | |
| 44 --fields $count.sources.fields | |
| 45 </command> | |
| 46 | |
| 47 <outputs> | |
| 48 <data format="vcf" name="output" label="${tool.name} output"/> | |
| 49 </outputs> | |
| 50 | |
| 51 <inputs> | |
| 52 <!--form field to select crr file--> | |
| 53 <param name="crr" type="select" label="Reference genome (.crr file)"> | |
| 54 <options from_data_table="cg_crr_files" /> | |
| 55 </param> | |
| 56 | |
| 57 <!--select number of genomes - determines which input sources to show--> | |
| 58 <conditional name="count"> | |
| 59 <param name="genomes" type="select" label="Select the number of genomes to add to the vcf file" help="Note: multi-genome vcfs (2 or more genomes) can only be generated for format version 2.0 and up"> | |
| 60 <option value="1" selected="true">1 - allowed data sources are masterVar, CNV, SV, MEI</option> | |
| 61 <option value="2">2 - allowed data sources are masterVar, CNV, SV (format v2.x)</option> | |
| 62 <option value="3">3 or more - allowed data sources are masterVar, CNV (format v2.x)</option> | |
| 63 </param> | |
| 64 | |
| 65 <when value="1"> | |
| 66 <!--form field to select input sources--> | |
| 67 <conditional name="sources"> | |
| 68 <param name="source" type="select" label="Data sources to be included for this genome"> | |
| 69 <option value="masterVar,CNV,SV,MEI" selected="true">masterVar + CNV + SV + MEI</option> | |
| 70 <option value="masterVar">masterVar</option> | |
| 71 <option value="CNV">CNV</option> | |
| 72 <option value="SV">SV</option> | |
| 73 <option value="MEI">MEI</option> | |
| 74 </param> | |
| 75 | |
| 76 <when value="masterVar,CNV,SV,MEI"> | |
| 77 <!--conditional to select inputs--> | |
| 78 <conditional name="data_sources"> | |
| 79 <param name="data_source" type="select" label="Where are the input files?"> | |
| 80 <option value="out" selected="true">located outside Galaxy (data on server or mounted drive)</option> | |
| 81 </param> | |
| 82 | |
| 83 <when value="out"> | |
| 84 <!--form field to enter input file--> | |
| 85 <param name="input" type="text" label="Genome root directory" size="200" help="Enter full path /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01)."> | |
| 86 <validator type="empty_field" message="You must supply the genome root directory"/> | |
| 87 </param> | |
| 88 </when> | |
| 89 </conditional> | |
| 90 | |
| 91 <!--form field to select no-calls--> | |
| 92 <param name="nocalls" type="select" label="Include no-calls?"> | |
| 93 <option value="" selected="true">no</option> | |
| 94 <option value="--nocalls">yes</option> | |
| 95 </param> | |
| 96 | |
| 97 <!--form field to enter calibration directory--> | |
| 98 <param name="calibration" type="text" size="300" label="Directory calibration data (/path/calibration-root)" help="The directory containing calibration data. For example, there should exist a file calibration-root/0.0.0/metrics.tsv. Calibration data can be downloaded from ftp://ftp.completegenomics.com/ScoreCalibrationFiles/var-calibration-v2.tgz"/> | |
| 99 | |
| 100 <!--form fields junction threshold options--> | |
| 101 <param name="jctscore" type="integer" value="10" label="Junction score thresholds (discordant mate pair count) (default 10)"> | |
| 102 <validator type="empty_field" message="You must enter a value, for the default value enter 10" /> | |
| 103 </param> | |
| 104 <param name="jctside" type="integer" value="70" label="Junction side length threshold (default 70)"> | |
| 105 <validator type="empty_field" message="You must enter a value, for the default value enter 70" /> | |
| 106 </param> | |
| 107 <param name="jctdistance" type="integer" value="200" label="Distance tolerance for junction compatibility (default 200)"> | |
| 108 <validator type="empty_field" message="You must enter a value, for the default value enter 200" /> | |
| 109 </param> | |
| 110 <param name="jctlength" type="integer" value="500" label="Length threshold for compatible junctions (default 500)"> | |
| 111 <validator type="empty_field" message="You must enter a value, for the default value enter 500" /> | |
| 112 </param> | |
| 113 | |
| 114 <!--form field to select junction confidence in tumors--> | |
| 115 <param name="jctpriority" type="select" label="Use normal junction priority for vcf output?"> | |
| 116 <option value="" selected="true">no</option> | |
| 117 <option value="--jctpriority">yes</option> | |
| 118 </param> | |
| 119 | |
| 120 <!--form field to select junction confidence in tumors--> | |
| 121 <param name="jcttumor" type="select" label="Use high confidence junctions for tumors?"> | |
| 122 <option value="" selected="true">no</option> | |
| 123 <option value="--jcttumor">yes</option> | |
| 124 </param> | |
| 125 | |
| 126 <!--form field to select field names to include in vcf--> | |
| 127 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 128 <option value="all" selected="true">-- all (default) --</option> | |
| 129 <option value="NS">NS - Number of samples</option> | |
| 130 <option value="AN">AN - Total number of alleles in called genotypes</option> | |
| 131 <option value="AC">AC - Allele count in genotypes</option> | |
| 132 <option value="CGA_XR">CGA_XR - External database reference</option> | |
| 133 <option value="CGA_FI">CGA_FI - Functional impact</option> | |
| 134 <option value="CGA_PFAM">CGA_PFAM - PFAM domain </option> | |
| 135 <option value="CGA_MIRB">CGA_MIRB - miRBaseId</option> | |
| 136 <option value="CGA_SDO">CGA_SDO - Depth of overlapping segmental duplications</option> | |
| 137 <option value="CGA_RPT">CGA_RPT - Overlapping repeatMasker annotations</option> | |
| 138 <option value="GT">GT - Genotype</option> | |
| 139 <option value="PS">PS - Phase set</option> | |
| 140 <option value="FT">FT - Sample genotype filters</option> | |
| 141 <option value="GL">GL - Genotype likelihoods</option> | |
| 142 <option value="CGA_CEHQ">CGA_CEHQ - Calibrated haplotype quality based on EAF assumption</option> | |
| 143 <option value="CGA_CEGL">CGA_CEGL - Genotype likelihoods based on CEHQ</option> | |
| 144 <option value="SS">SS - Somatic status</option> | |
| 145 <option value="HQ">HQ - Haplotype quality</option> | |
| 146 <option value="EHQ">EHQ - Haplotype quality based on EAF assumption</option> | |
| 147 <option value="GQ">GQ - Genotype quality</option> | |
| 148 <option value="DP">DP - Total read depth</option> | |
| 149 <option value="AD">AD - Allelic depths</option> | |
| 150 <option value="CGA_RDP">CGA_RDP - Read depth in reference</option> | |
| 151 <option value="CGA_ODP">CGA_ODP - Other total read depth: somatic comparison</option> | |
| 152 <option value="CGA_OAD">CGA_OAD - Other allelic depths: somatic comparison</option> | |
| 153 <option value="CGA_ORDP">CGA_ORDP - Other reference depth: somatic comparison </option> | |
| 154 <option value="CGA_SOMC">CGA_SOMC - Somatic Category</option> | |
| 155 <option value="CGA_SOMR">CGA_SOMR - Somatic Rank</option> | |
| 156 <option value="CGA_SOMS">CGA_SOMS - Somatic Score</option> | |
| 157 <option value="CGA_GP">CGA_GP - Normalized mean GC corrected coverage</option> | |
| 158 <option value="CGA_NP">CGA_NP - Normalized mean coverage for 2k window</option> | |
| 159 <option value="CGA_CP">CGA_CP - Diploid-model ploidy call for segment including this interval</option> | |
| 160 <option value="CGA_PS">CGA_PS - Diploid-model called ploidy score</option> | |
| 161 <option value="CGA_CT">CGA_CT - Diploid-model CNV type</option> | |
| 162 <option value="CGA_TS">CGA_TS - Diploid-model CNV type score</option> | |
| 163 <option value="CGA_CL">CGA_CL - Nondiploid-model called level</option> | |
| 164 <option value="CGA_LS">CGA_LS - Nondiploid-model called level score</option> | |
| 165 <option value="CGA_SCL">CGA_SCL - Nondiploid-model somatic called level</option> | |
| 166 <option value="CGA_SLS">CGA_SLS - Non-diploid-model somatic called level score</option> | |
| 167 <option value="CGA_LAF">CGA_LAF - Lesser Allele Fraction estimate, 100k window</option> | |
| 168 <option value="CGA_LLAF">CGA_LLAF - Lesser Allele Fraction lower bound, 100k window</option> | |
| 169 <option value="CGA_ULAF">CGA_ULAF - Lesser Allele Fraction upper bound, 100k window</option> | |
| 170 <option value="SVTYPE">SVTYPE - Type of structural variation</option> | |
| 171 <option value="CGA_BF">CGA_BF - Frequency in set of baseline genomes</option> | |
| 172 <option value="CGA_MEDEL">CGA_MEDEL - Mobile element deletion</option> | |
| 173 <option value="MATEID">MATEID - ID of mate breakend</option> | |
| 174 <option value="CGA_BNDG">CGA_BNDG - Transcript name and strand of genes containing breakend</option> | |
| 175 <option value="CGA_BNDGO">CGA_BNDGO - Transcript name and strand of genes containing mate breakend</option> | |
| 176 <option value="CGA_BNDP">CGA_BNDP - Precision of breakend</option> | |
| 177 <option value="CGA_BNDMPC">CGA_BNDMPC - Mate pair count supporting a breakend</option> | |
| 178 <option value="CGA_BNDPOS">CGA_BNDPOS - Position of breakend as detected in individual genome</option> | |
| 179 <option value="CGA_BNDDEF">CGA_BNDDEF - Breakend definition in individual genome</option> | |
| 180 <option value="CGA_IS">CGA_IS - Measure of confidence that there is a mobile element insertion</option> | |
| 181 <option value="CGA_IDC">CGA_IDC - Count of paired ends consistently indicating a mobile element insertion</option> | |
| 182 <option value="CGA_IDCL">CGA_IDCL - Count of paired ends indicating a mobile element insertion anchored 5'</option> | |
| 183 <option value="CGA_IDCR">CGA_IDCR - Count of paired ends indicating a mobile element insertion anchored 3'</option> | |
| 184 <option value="CGA_RDC">CGA_RDC - Count of paired ends supporting the presence of a reference allele</option> | |
| 185 <option value="CGA_NBET">CGA_NBET - Next-best estimate of type of MEI</option> | |
| 186 <option value="CGA_ETS">CGA_ETS - Measure of confidence that the ElementType (MEINFO:NAME) is correct</option> | |
| 187 <option value="CGA_KES">CGA_KES - Fraction of known MEI with at least as good an InsertionScore</option> | |
| 188 </param> | |
| 189 </when> | |
| 190 | |
| 191 <when value="masterVar"> | |
| 192 <!--conditional to select inputs--> | |
| 193 <conditional name="data_sources"> | |
| 194 <param name="data_source" type="select" label="Where is the input file?"> | |
| 195 <option value="in" selected="true">imported into Galaxy</option> | |
| 196 <option value="out">located outside Galaxy (data on server or mounted drive)</option> | |
| 197 </param> | |
| 198 | |
| 199 <when value="in"> | |
| 200 <!--form field to select mastervar files--> | |
| 201 <repeat name="files" title="MasterVar file" min="1" max="1"> | |
| 202 <param name="input" type="data" format="cg_mastervar" label="Dataset"> | |
| 203 <validator type="dataset_ok_validator" /> | |
| 204 <validator type="dataset_metadata_in_file" filename="cg_crr_files.loc" | |
| 205 metadata_name="dbkey" metadata_column="1" | |
| 206 message="cgatools is not currently available for this build."/> | |
| 207 </param> | |
| 208 </repeat> | |
| 209 </when> | |
| 210 | |
| 211 <when value="out"> | |
| 212 <!--form field to enter input file--> | |
| 213 <param name="input" type="text" label="Genome root directory or masterVar file" size="200" help="Enter full path /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01), or /path/masterVarfile (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01/ASM/masterVarBeta-GS00000YYYY-ASM.tsv.bz2)."> | |
| 214 <validator type="empty_field" message="You must supply the genome root directory or masterVar file"/> | |
| 215 </param> | |
| 216 </when> | |
| 217 </conditional> | |
| 218 | |
| 219 <!--form field to select no-calls--> | |
| 220 <param name="nocalls" type="select" label="Include no-calls?"> | |
| 221 <option value="" selected="true">no</option> | |
| 222 <option value="--nocalls">yes</option> | |
| 223 </param> | |
| 224 | |
| 225 <!--form field to enter calibration directory--> | |
| 226 <param name="calibration" type="text" size="300" label="Directory calibration data (/path/calibration-root)" help="The directory containing calibration data. For example, there should exist a file calibration-root/0.0.0/metrics.tsv. Calibration data can be downloaded from ftp://ftp.completegenomics.com/ScoreCalibrationFiles/var-calibration-v2.tgz"/> | |
| 227 | |
| 228 <!--form field to select field names to include in vcf--> | |
| 229 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 230 <option value="all" selected="true">-- all (default) --</option> | |
| 231 <option value="NS">NS - Number of samples</option> | |
| 232 <option value="AN">AN - Total number of alleles in called genotypes</option> | |
| 233 <option value="AC">AC - Allele count in genotypes</option> | |
| 234 <option value="CGA_XR">CGA_XR - External database reference</option> | |
| 235 <option value="CGA_FI">CGA_FI - Functional impact</option> | |
| 236 <option value="CGA_PFAM">CGA_PFAM - PFAM domain </option> | |
| 237 <option value="CGA_MIRB">CGA_MIRB - miRBaseId</option> | |
| 238 <option value="CGA_SDO">CGA_SDO - Depth of overlapping segmental duplications</option> | |
| 239 <option value="CGA_RPT">CGA_RPT - Overlapping repeatMasker annotations</option> | |
| 240 <option value="GT">GT - Genotype</option> | |
| 241 <option value="PS">PS - Phase set</option> | |
| 242 <option value="FT">FT - Sample genotype filters</option> | |
| 243 <option value="GL">GL - Genotype likelihoods</option> | |
| 244 <option value="CGA_CEHQ">CGA_CEHQ - Calibrated haplotype quality based on EAF assumption</option> | |
| 245 <option value="CGA_CEGL">CGA_CEGL - Genotype likelihoods based on CEHQ</option> | |
| 246 <option value="SS">SS - Somatic status</option> | |
| 247 <option value="HQ">HQ - Haplotype quality</option> | |
| 248 <option value="EHQ">EHQ - Haplotype quality based on EAF assumption</option> | |
| 249 <option value="GQ">GQ - Genotype quality</option> | |
| 250 <option value="DP">DP - Total read depth</option> | |
| 251 <option value="AD">AD - Allelic depths</option> | |
| 252 <option value="CGA_RDP">CGA_RDP - Read depth in reference</option> | |
| 253 <option value="CGA_ODP">CGA_ODP - Other total read depth: somatic comparison</option> | |
| 254 <option value="CGA_OAD">CGA_OAD - Other allelic depths: somatic comparison</option> | |
| 255 <option value="CGA_ORDP">CGA_ORDP - Other reference depth: somatic comparison </option> | |
| 256 <option value="CGA_SOMC">CGA_SOMC - Somatic Category</option> | |
| 257 <option value="CGA_SOMR">CGA_SOMR - Somatic Rank</option> | |
| 258 <option value="CGA_SOMS">CGA_SOMS - Somatic Score</option> | |
| 259 </param> | |
| 260 </when> | |
| 261 | |
| 262 <when value="CNV"> | |
| 263 <!--conditional to select inputs--> | |
| 264 <conditional name="data_sources"> | |
| 265 <param name="data_source" type="select" label="Where are the input files?"> | |
| 266 <option value="out" selected="true">located outside Galaxy (data on server or mounted drive)</option> | |
| 267 </param> | |
| 268 | |
| 269 <when value="out"> | |
| 270 <!--form field to enter input file--> | |
| 271 <param name="input" type="text" label="Genome root directory" size="200" help="Enter full path /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01)."> | |
| 272 <validator type="empty_field" message="You must supply the genome root directory"/> | |
| 273 </param> | |
| 274 </when> | |
| 275 </conditional> | |
| 276 | |
| 277 <!--form field to select field names to include in vcf--> | |
| 278 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 279 <option value="all" selected="true">-- all (default) --</option> | |
| 280 <option value="GT">GT - Genotype</option> | |
| 281 <option value="CGA_GP">CGA_GP - Normalized mean GC corrected coverage</option> | |
| 282 <option value="CGA_NP">CGA_NP - Normalized mean coverage for 2k window</option> | |
| 283 <option value="CGA_CP">CGA_CP - Diploid-model ploidy call for segment</option> | |
| 284 <option value="CGA_PS">CGA_PS - Diploid-model called ploidy score</option> | |
| 285 <option value="CGA_CT">CGA_CT - Diploid-model CNV type</option> | |
| 286 <option value="CGA_TS">CGA_TS - Diploid-model CNV type score</option> | |
| 287 <option value="CGA_CL">CGA_CL - Nondiploid-model called level</option> | |
| 288 <option value="CGA_LS">CGA_LS - Nondiploid-model called level score</option> | |
| 289 <option value="CGA_SCL">CGA_SCL - Nondiploid-model somatic called level</option> | |
| 290 <option value="CGA_SLS">CGA_SLS - Non-diploid-model somatic called level score</option> | |
| 291 <option value="CGA_LAF">CGA_LAF - Lesser Allele Fraction estimate, 100k window</option> | |
| 292 <option value="CGA_LLAF">CGA_LLAF - Lesser Allele Fraction lower bound, 100k window</option> | |
| 293 <option value="CGA_ULAF">CGA_ULAF - Lesser Allele Fraction upper bound, 100k window</option> | |
| 294 </param> | |
| 295 </when> | |
| 296 | |
| 297 <when value="SV"> | |
| 298 <!--conditional to select inputs--> | |
| 299 <conditional name="data_sources"> | |
| 300 <param name="data_source" type="select" label="Where are the input files?"> | |
| 301 <option value="in" selected="true">imported into Galaxy</option> | |
| 302 <option value="out">located outside Galaxy (data on server or mounted drive)</option> | |
| 303 </param> | |
| 304 | |
| 305 <when value="in"> | |
| 306 <!--form field to select SV file--> | |
| 307 <repeat name="files" title="SV file" min="1" max="1"> | |
| 308 <param name="input" type="data" format="tabular" label="Dataset"> | |
| 309 <validator type="dataset_ok_validator" /> | |
| 310 <validator type="dataset_metadata_in_file" filename="cg_crr_files.loc" | |
| 311 metadata_name="dbkey" metadata_column="1" | |
| 312 message="cgatools is not currently available for this build."/> | |
| 313 </param> | |
| 314 </repeat> | |
| 315 </when> | |
| 316 | |
| 317 <when value="out"> | |
| 318 <!--form field to enter input file--> | |
| 319 <param name="input" type="text" label="Genome root directory or SV file" size="200" help="Enter full path /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01), or /path/SVfile (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01/ASM/SV/allJunctionsBeta-GS00000YYYY-ASM.tsv)."> | |
| 320 <validator type="empty_field" message="You must supply the genome root directory or SV file"/> | |
| 321 </param> | |
| 322 </when> | |
| 323 </conditional> | |
| 324 | |
| 325 <!--form fields junction threshold options--> | |
| 326 <param name="jctscore" type="integer" value="10" label="Junction score thresholds (discordant mate pair count) (default 10)"> | |
| 327 <validator type="empty_field" message="You must enter a value, for the default value enter 10" /> | |
| 328 </param> | |
| 329 <param name="jctside" type="integer" value="70" label="Junction side length threshold (default 70)"> | |
| 330 <validator type="empty_field" message="You must enter a value, for the default value enter 70" /> | |
| 331 </param> | |
| 332 <param name="jctdistance" type="integer" value="200" label="Distance tolerance for junction compatibility (default 200)"> | |
| 333 <validator type="empty_field" message="You must enter a value, for the default value enter 200" /> | |
| 334 </param> | |
| 335 <param name="jctlength" type="integer" value="500" label="Length threshold for compatible junctions (default 500)"> | |
| 336 <validator type="empty_field" message="You must enter a value, for the default value enter 500" /> | |
| 337 </param> | |
| 338 | |
| 339 <!--form field to select junction confidence in tumors--> | |
| 340 <param name="jctpriority" type="select" label="Use normal junction priority for vcf output?"> | |
| 341 <option value="" selected="true">no</option> | |
| 342 <option value="--jctpriority">yes</option> | |
| 343 </param> | |
| 344 | |
| 345 <!--form field to select junction confidence in tumors--> | |
| 346 <param name="jcttumor" type="select" label="Use high confidence junctions for tumors?"> | |
| 347 <option value="" selected="true">no</option> | |
| 348 <option value="--jcttumor">yes</option> | |
| 349 </param> | |
| 350 | |
| 351 <!--form field to select field names to include in vcf--> | |
| 352 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 353 <option value="all" selected="true">-- all (default) --</option> | |
| 354 <option value="GT">GT - Genotype</option> | |
| 355 <option value="FT">FT - Sample genotype filters</option> | |
| 356 <option value="NS">NS - Number of samples</option> | |
| 357 <option value="CGA_XR">CGA_XR - External database reference</option> | |
| 358 <option value="SVTYPE">SVTYPE - Type of structural variation</option> | |
| 359 <option value="CGA_BF">CGA_BF - Frequency in set of baseline genomes</option> | |
| 360 <option value="CGA_MEDEL">CGA_MEDEL - Mobile element deletion</option> | |
| 361 <option value="MATEID">MATEID - ID of mate breakend</option> | |
| 362 <option value="CGA_BNDG">CGA_BNDG - Transcript name and strand of genes containing breakend</option> | |
| 363 <option value="CGA_BNDGO">CGA_BNDGO - Transcript name and strand of genes containing mate breakend</option> | |
| 364 <option value="CGA_BNDP">CGA_BNDP - Precision of breakend</option> | |
| 365 <option value="CGA_BNDMPC">CGA_BNDMPC - Mate pair count supporting a breakend</option> | |
| 366 <option value="CGA_BNDPOS">CGA_BNDPOS - Position of breakend as detected in individual genome</option> | |
| 367 <option value="CGA_BNDDEF">CGA_BNDDEF - Breakend definition in individual genome</option> | |
| 368 </param> | |
| 369 </when> | |
| 370 | |
| 371 <when value="MEI"> | |
| 372 <!--conditional to select inputs--> | |
| 373 <conditional name="data_sources"> | |
| 374 <param name="data_source" type="select" label="Where are the input files?"> | |
| 375 <option value="out" selected="true">located outside Galaxy</option> | |
| 376 </param> | |
| 377 | |
| 378 <when value="out"> | |
| 379 <!--form field to select outside list of genome directories or mastervar files--> | |
| 380 <param name="input" type="text" label="Genome root directory" size="200" help="Enter full path /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01)."> | |
| 381 <validator type="empty_field" message="You must supply the genome root directory"/> | |
| 382 </param> | |
| 383 </when> | |
| 384 </conditional> | |
| 385 | |
| 386 <!--form field to select field names to include in vcf--> | |
| 387 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 388 <option value="all" selected="true">-- all (default) --</option> | |
| 389 <option value="GT">GT - Genotype</option> | |
| 390 <option value="FT">FT - Sample genotype filters</option> | |
| 391 <option value="CGA_IS">CGA_IS - Measure of confidence that there is a mobile element insertion</option> | |
| 392 <option value="CGA_IDC">CGA_IDC - Count of paired ends consistently indicating a mobile element insertion</option> | |
| 393 <option value="CGA_IDCL">CGA_IDCL - Count of paired ends indicating a mobile element insertion, anchored 5'</option> | |
| 394 <option value="CGA_IDCR">CGA_IDCR - Count of paired ends indicating a mobile element insertion, anchored 3'</option> | |
| 395 <option value="CGA_RDC">CGA_RDC - Count of paired ends supporting the presence of a reference allele</option> | |
| 396 <option value="CGA_NBET">CGA_NBET - Next-best estimate of type of MEI</option> | |
| 397 <option value="CGA_ETS">CGA_ETS - Measure of confidence that the ElementType (MEINFO:NAME) is correct</option> | |
| 398 <option value="CGA_KES">CGA_KES - Fraction of known MEI with at least as good an InsertionScore</option> | |
| 399 </param> | |
| 400 </when> | |
| 401 | |
| 402 </conditional> | |
| 403 </when> | |
| 404 | |
| 405 <when value="2"> | |
| 406 <!--form field to select input sources--> | |
| 407 <conditional name="sources"> | |
| 408 <param name="source" type="select" label="Data sources to be included for each genome"> | |
| 409 <option value="masterVar,CNV,SV" selected="true">masterVar + CNV + SV</option> | |
| 410 <option value="masterVar">masterVar</option> | |
| 411 <option value="CNV">CNV</option> | |
| 412 <option value="SV">SV</option> | |
| 413 </param> | |
| 414 | |
| 415 <when value="masterVar,CNV,SV"> | |
| 416 <!--conditional to select inputs--> | |
| 417 <conditional name="data_sources"> | |
| 418 <param name="data_source" type="select" label="Where are the input files?"> | |
| 419 <option value="out" selected="true">located outside Galaxy (data on server or mounted drive)</option> | |
| 420 </param> | |
| 421 | |
| 422 <when value="out"> | |
| 423 <!--form field to enter input file--> | |
| 424 <param name="input" type="text" label="File with list of genome root directories" size="200" help="Enter file name with full path (/path/file). This file should contain a list of genome root directory names, one per line in the format /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01). For normal/tumor comparisons list the baseline genome first."> | |
| 425 <validator type="empty_field" message="You must supply the list of genome root directories"/> | |
| 426 </param> | |
| 427 </when> | |
| 428 </conditional> | |
| 429 | |
| 430 <!--form field to select no-calls--> | |
| 431 <param name="nocalls" type="select" label="Include no-calls?"> | |
| 432 <option value="" selected="true">no</option> | |
| 433 <option value="--nocalls">yes</option> | |
| 434 </param> | |
| 435 | |
| 436 <!--form field to enter calibration directory--> | |
| 437 <param name="calibration" type="text" size="300" label="Directory calibration data (/path/calibration-root)" help="The directory containing calibration data. For example, there should exist a file calibration-root/0.0.0/metrics.tsv. Calibration data can be downloaded from ftp://ftp.completegenomics.com/ScoreCalibrationFiles/var-calibration-v2.tgz"/> | |
| 438 | |
| 439 <!--form fields junction threshold options--> | |
| 440 <param name="jctscore" type="integer" value="10" label="Junction score thresholds (discordant mate pair count) (default 10)"> | |
| 441 <validator type="empty_field" message="You must enter a value, for the default value enter 10" /> | |
| 442 </param> | |
| 443 <param name="jctside" type="integer" value="70" label="Junction side length threshold (default 70)"> | |
| 444 <validator type="empty_field" message="You must enter a value, for the default value enter 70" /> | |
| 445 </param> | |
| 446 <param name="jctdistance" type="integer" value="200" label="Distance tolerance for junction compatibility (default 200)"> | |
| 447 <validator type="empty_field" message="You must enter a value, for the default value enter 200" /> | |
| 448 </param> | |
| 449 <param name="jctlength" type="integer" value="500" label="Length threshold for compatible junctions (default 500)"> | |
| 450 <validator type="empty_field" message="You must enter a value, for the default value enter 500" /> | |
| 451 </param> | |
| 452 | |
| 453 <!--form field to select junction confidence in tumors--> | |
| 454 <param name="jctpriority" type="select" label="Use normal junction priority for vcf output?"> | |
| 455 <option value="" selected="true">no</option> | |
| 456 <option value="--jctpriority">yes</option> | |
| 457 </param> | |
| 458 | |
| 459 <!--form field to select junction confidence in tumors--> | |
| 460 <param name="jcttumor" type="select" label="Use high confidence junctions for tumors?"> | |
| 461 <option value="" selected="true">no</option> | |
| 462 <option value="--jcttumor">yes</option> | |
| 463 </param> | |
| 464 | |
| 465 <!--form field to select field names to include in vcf--> | |
| 466 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 467 <option value="all" selected="true">-- all (default) --</option> | |
| 468 <option value="NS">NS - Number of samples</option> | |
| 469 <option value="AN">AN - Total number of alleles in called genotypes</option> | |
| 470 <option value="AC">AC - Allele count in genotypes</option> | |
| 471 <option value="CGA_XR">CGA_XR - External database reference</option> | |
| 472 <option value="CGA_FI">CGA_FI - Functional impact</option> | |
| 473 <option value="CGA_PFAM">CGA_PFAM - PFAM domain </option> | |
| 474 <option value="CGA_MIRB">CGA_MIRB - miRBaseId</option> | |
| 475 <option value="CGA_SDO">CGA_SDO - Depth of overlapping segmental duplications</option> | |
| 476 <option value="CGA_RPT">CGA_RPT - Overlapping repeatMasker annotations</option> | |
| 477 <option value="GT">GT - Genotype</option> | |
| 478 <option value="PS">PS - Phase set</option> | |
| 479 <option value="FT">FT - Sample genotype filters</option> | |
| 480 <option value="GL">GL - Genotype likelihoods</option> | |
| 481 <option value="CGA_CEHQ">CGA_CEHQ - Calibrated haplotype quality based on EAF assumption</option> | |
| 482 <option value="CGA_CEGL">CGA_CEGL - Genotype likelihoods based on CEHQ</option> | |
| 483 <option value="SS">SS - Somatic status</option> | |
| 484 <option value="HQ">HQ - Haplotype quality</option> | |
| 485 <option value="EHQ">EHQ - Haplotype quality based on EAF assumption</option> | |
| 486 <option value="GQ">GQ - Genotype quality</option> | |
| 487 <option value="DP">DP - Total read depth</option> | |
| 488 <option value="AD">AD - Allelic depths</option> | |
| 489 <option value="CGA_RDP">CGA_RDP - Read depth in reference</option> | |
| 490 <option value="CGA_ODP">CGA_ODP - Other total read depth: somatic comparison</option> | |
| 491 <option value="CGA_OAD">CGA_OAD - Other allelic depths: somatic comparison</option> | |
| 492 <option value="CGA_ORDP">CGA_ORDP - Other reference depth: somatic comparison </option> | |
| 493 <option value="CGA_SOMC">CGA_SOMC - Somatic Category</option> | |
| 494 <option value="CGA_SOMR">CGA_SOMR - Somatic Rank</option> | |
| 495 <option value="CGA_SOMS">CGA_SOMS - Somatic Score</option> | |
| 496 <option value="CGA_GP">CGA_GP - Normalized mean GC corrected coverage</option> | |
| 497 <option value="CGA_NP">CGA_NP - Normalized mean coverage for 2k window</option> | |
| 498 <option value="CGA_CP">CGA_CP - Diploid-model ploidy call for segment</option> | |
| 499 <option value="CGA_PS">CGA_PS - Diploid-model called ploidy score</option> | |
| 500 <option value="CGA_CT">CGA_CT - Diploid-model CNV type</option> | |
| 501 <option value="CGA_TS">CGA_TS - Diploid-model CNV type score</option> | |
| 502 <option value="CGA_CL">CGA_CL - Nondiploid-model called level</option> | |
| 503 <option value="CGA_LS">CGA_LS - Nondiploid-model called level score</option> | |
| 504 <option value="CGA_SCL">CGA_SCL - Nondiploid-model somatic called level</option> | |
| 505 <option value="CGA_SLS">CGA_SLS - Non-diploid-model somatic called level score</option> | |
| 506 <option value="CGA_LAF">CGA_LAF - Lesser Allele Fraction estimate, 100k window</option> | |
| 507 <option value="CGA_LLAF">CGA_LLAF - Lesser Allele Fraction lower bound, 100k window</option> | |
| 508 <option value="CGA_ULAF">CGA_ULAF - Lesser Allele Fraction upper bound, 100k window</option> | |
| 509 <option value="SVTYPE">SVTYPE - Type of structural variation</option> | |
| 510 <option value="CGA_BF">CGA_BF - Frequency in set of baseline genomes</option> | |
| 511 <option value="CGA_MEDEL">CGA_MEDEL - Mobile element deletion</option> | |
| 512 <option value="MATEID">MATEID - ID of mate breakend</option> | |
| 513 <option value="CGA_BNDG">CGA_BNDG - Transcript name and strand of genes containing breakend</option> | |
| 514 <option value="CGA_BNDGO">CGA_BNDGO - Transcript name and strand of genes containing mate breakend</option> | |
| 515 <option value="CGA_BNDP">CGA_BNDP - Precision of breakend</option> | |
| 516 <option value="CGA_BNDMPC">CGA_BNDMPC - Mate pair count supporting a breakend</option> | |
| 517 <option value="CGA_BNDPOS">CGA_BNDPOS - Position of breakend as detected in individual genome</option> | |
| 518 <option value="CGA_BNDDEF">CGA_BNDDEF - Breakend definition in individual genome</option> | |
| 519 </param> | |
| 520 </when> | |
| 521 | |
| 522 <when value="masterVar"> | |
| 523 <!--conditional to select inputs--> | |
| 524 <conditional name="data_sources"> | |
| 525 <param name="data_source" type="select" label="Where are the input files?"> | |
| 526 <option value="in" selected="true">imported into Galaxy</option> | |
| 527 <option value="out">located outside Galaxy (data on server or mounted drive)</option> | |
| 528 </param> | |
| 529 | |
| 530 <when value="in"> | |
| 531 <!--form field to select input files--> | |
| 532 <repeat name="files" title="MasterVar file" min="1" max="2"> | |
| 533 <param name="input" type="data" format="cg_mastervar" label="Dataset"> | |
| 534 <validator type="dataset_ok_validator"/> | |
| 535 <validator type="dataset_metadata_in_file" filename="cg_crr_files.loc" | |
| 536 metadata_name="dbkey" metadata_column="1" | |
| 537 message="cgatools is not currently available for this build."/> | |
| 538 </param> | |
| 539 </repeat> | |
| 540 </when> | |
| 541 | |
| 542 <when value="out"> | |
| 543 <!--form field to enter input file--> | |
| 544 <param name="input" type="text" label="File with list of genome root directories or masterVar files" size="200" help="Enter file name with full path (/path/file). This file should contain a list of genome root directory names, one per line in the format /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01), or a list of masterVar files, one per line in the format /path/masterVarfile (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01/ASM/masterVarBeta-GS00000YYYY-ASM.tsv.bz2)."> | |
| 545 <validator type="empty_field" message="You must supply the list of genome root directories or masterVar files"/> | |
| 546 </param> | |
| 547 </when> | |
| 548 </conditional> | |
| 549 | |
| 550 <!--form field to select no-calls--> | |
| 551 <param name="nocalls" type="select" label="Include no-calls?"> | |
| 552 <option value="" selected="true">no</option> | |
| 553 <option value="--nocalls">yes</option> | |
| 554 </param> | |
| 555 | |
| 556 <!--form field to enter calibration directory--> | |
| 557 <param name="calibration" type="text" size="300" label="Directory calibration data (/path/calibration-root)" help="The directory containing calibration data. For example, there should exist a file calibration-root/0.0.0/metrics.tsv. Calibration data can be downloaded from ftp://ftp.completegenomics.com/ScoreCalibrationFiles/var-calibration-v2.tgz"/> | |
| 558 | |
| 559 <!--form field to select field names to include in vcf--> | |
| 560 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 561 <option value="all" selected="true">-- all (default) --</option> | |
| 562 <option value="NS">NS - Number of samples</option> | |
| 563 <option value="AN">AN - Total number of alleles in called genotypes</option> | |
| 564 <option value="AC">AC - Allele count in genotypes</option> | |
| 565 <option value="CGA_XR">CGA_XR - External database reference</option> | |
| 566 <option value="CGA_FI">CGA_FI - Functional impact</option> | |
| 567 <option value="CGA_PFAM">CGA_PFAM - PFAM domain </option> | |
| 568 <option value="CGA_MIRB">CGA_MIRB - miRBaseId</option> | |
| 569 <option value="CGA_SDO">CGA_SDO - Depth of overlapping segmental duplications</option> | |
| 570 <option value="CGA_RPT">CGA_RPT - Overlapping repeatMasker annotations</option> | |
| 571 <option value="GT">GT - Genotype</option> | |
| 572 <option value="PS">PS - Phase set</option> | |
| 573 <option value="FT">FT - Sample genotype filters</option> | |
| 574 <option value="GL">GL - Genotype likelihoods</option> | |
| 575 <option value="CGA_CEHQ">CGA_CEHQ - Calibrated haplotype quality based on EAF assumption</option> | |
| 576 <option value="CGA_CEGL">CGA_CEGL - Genotype likelihoods based on CEHQ</option> | |
| 577 <option value="SS">SS - Somatic status</option> | |
| 578 <option value="HQ">HQ - Haplotype quality</option> | |
| 579 <option value="EHQ">EHQ - Haplotype quality based on EAF assumption</option> | |
| 580 <option value="GQ">GQ - Genotype quality</option> | |
| 581 <option value="DP">DP - Total read depth</option> | |
| 582 <option value="AD">AD - Allelic depths</option> | |
| 583 <option value="CGA_RDP">CGA_RDP - Read depth in reference</option> | |
| 584 <option value="CGA_ODP">CGA_ODP - Other total read depth: somatic comparison</option> | |
| 585 <option value="CGA_OAD">CGA_OAD - Other allelic depths: somatic comparison</option> | |
| 586 <option value="CGA_ORDP">CGA_ORDP - Other reference depth: somatic comparison </option> | |
| 587 <option value="CGA_SOMC">CGA_SOMC - Somatic Category</option> | |
| 588 <option value="CGA_SOMR">CGA_SOMR - Somatic Rank</option> | |
| 589 <option value="CGA_SOMS">CGA_SOMS - Somatic Score</option> | |
| 590 </param> | |
| 591 </when> | |
| 592 | |
| 593 <when value="CNV"> | |
| 594 <!--conditional to select inputs--> | |
| 595 <conditional name="data_sources"> | |
| 596 <param name="data_source" type="select" label="Where are the input files?"> | |
| 597 <option value="out" selected="true">located outside Galaxy (data on server or mounted drive)</option> | |
| 598 </param> | |
| 599 | |
| 600 <when value="out"> | |
| 601 <!--form field to enter input file--> | |
| 602 <param name="input" type="text" label="File with list of genome root directories" size="200" help="Enter file name with full path (/path/file). This file should contain a list of genome root directory names, one per line in the format /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01)."> | |
| 603 <validator type="empty_field" message="You must supply the list of genome root directories"/> | |
| 604 </param> | |
| 605 </when> | |
| 606 </conditional> | |
| 607 | |
| 608 <!--form field to select field names to include in vcf--> | |
| 609 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 610 <option value="all" selected="true">-- all (default) --</option> | |
| 611 <option value="GT">GT - Genotype</option> | |
| 612 <option value="CGA_GP">CGA_GP - Normalized mean GC corrected coverage</option> | |
| 613 <option value="CGA_NP">CGA_NP - Normalized mean coverage for 2k window</option> | |
| 614 <option value="CGA_CP">CGA_CP - Diploid-model ploidy call for segment</option> | |
| 615 <option value="CGA_PS">CGA_PS - Diploid-model called ploidy score</option> | |
| 616 <option value="CGA_CT">CGA_CT - Diploid-model CNV type</option> | |
| 617 <option value="CGA_TS">CGA_TS - Diploid-model CNV type score</option> | |
| 618 <option value="CGA_CL">CGA_CL - Nondiploid-model called level</option> | |
| 619 <option value="CGA_LS">CGA_LS - Nondiploid-model called level score</option> | |
| 620 <option value="CGA_SCL">CGA_SCL - Nondiploid-model somatic called level</option> | |
| 621 <option value="CGA_SLS">CGA_SLS - Non-diploid-model somatic called level score</option> | |
| 622 <option value="CGA_LAF">CGA_LAF - Lesser Allele Fraction estimate, 100k window</option> | |
| 623 <option value="CGA_LLAF">CGA_LLAF - Lesser Allele Fraction lower bound, 100k window</option> | |
| 624 <option value="CGA_ULAF">CGA_ULAF - Lesser Allele Fraction upper bound, 100k window</option> | |
| 625 </param> | |
| 626 </when> | |
| 627 | |
| 628 <when value="SV"> | |
| 629 <!--conditional to select inputs--> | |
| 630 <conditional name="data_sources"> | |
| 631 <param name="data_source" type="select" label="Where are the input files?"> | |
| 632 <option value="in" selected="true">imported into Galaxy</option> | |
| 633 <option value="out">located outside Galaxy (data on server or mounted drive)</option> | |
| 634 </param> | |
| 635 | |
| 636 <when value="in"> | |
| 637 <!--form field to select mastervar files--> | |
| 638 <repeat name="files" title="SV files" min="1" max="2"> | |
| 639 <param name="input" type="data" format="tabular" label="Dataset"> | |
| 640 <validator type="dataset_ok_validator" /> | |
| 641 <validator type="dataset_metadata_in_file" filename="cg_crr_files.loc" | |
| 642 metadata_name="dbkey" metadata_column="1" | |
| 643 message="cgatools is not currently available for this build."/> | |
| 644 </param> | |
| 645 </repeat> | |
| 646 </when> | |
| 647 | |
| 648 <when value="out"> | |
| 649 <!--form field to enter input file--> | |
| 650 <param name="input" type="text" label="File with list of genome root directories or SV files" size="200" help="Enter file name with full path (/path/file). This file should contain a list of genome root directory names, one per line in the format /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01), or a list of SV files, one per line in the format /path/SVfile (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01/ASM/SV/allJunctionsBeta-GS00000YYYY-ASM.tsv)."> | |
| 651 <validator type="empty_field" message="You must supply the list of genome root directories or SV files"/> | |
| 652 </param> | |
| 653 </when> | |
| 654 </conditional> | |
| 655 | |
| 656 <!--form fields junction threshold options--> | |
| 657 <param name="jctscore" type="integer" value="10" label="Junction score thresholds (discordant mate pair count) (default 10)"> | |
| 658 <validator type="empty_field" message="You must enter a value, for the default value enter 10" /> | |
| 659 </param> | |
| 660 <param name="jctside" type="integer" value="70" label="Junction side length threshold (default 70)"> | |
| 661 <validator type="empty_field" message="You must enter a value, for the default value enter 70" /> | |
| 662 </param> | |
| 663 <param name="jctdistance" type="integer" value="200" label="Distance tolerance for junction compatibility (default 200)"> | |
| 664 <validator type="empty_field" message="You must enter a value, for the default value enter 200" /> | |
| 665 </param> | |
| 666 <param name="jctlength" type="integer" value="500" label="Length threshold for compatible junctions (default 500)"> | |
| 667 <validator type="empty_field" message="You must enter a value, for the default value enter 500" /> | |
| 668 </param> | |
| 669 | |
| 670 <!--form field to select junction confidence in tumors--> | |
| 671 <param name="jctpriority" type="select" label="Use normal junction priority for vcf output?"> | |
| 672 <option value="" selected="true">no</option> | |
| 673 <option value="--jctpriority">yes</option> | |
| 674 </param> | |
| 675 | |
| 676 <!--form field to select junction confidence in tumors--> | |
| 677 <param name="jcttumor" type="select" label="Use high confidence junctions for tumors?"> | |
| 678 <option value="" selected="true">no</option> | |
| 679 <option value="--jcttumor">yes</option> | |
| 680 </param> | |
| 681 | |
| 682 <!--form field to select field names to include in vcf--> | |
| 683 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 684 <option value="all" selected="true">-- all (default) --</option> | |
| 685 <option value="GT">GT - Genotype</option> | |
| 686 <option value="FT">FT - Sample genotype filters</option> | |
| 687 <option value="SVTYPE">SVTYPE - Type of structural variation</option> | |
| 688 <option value="CGA_BF">CGA_BF - Frequency in set of baseline genomes</option> | |
| 689 <option value="CGA_MEDEL">CGA_MEDEL - Mobile element deletion</option> | |
| 690 <option value="MATEID">MATEID - ID of mate breakend</option> | |
| 691 <option value="CGA_BNDG">CGA_BNDG - Transcript name and strand of genes containing breakend</option> | |
| 692 <option value="CGA_BNDGO">CGA_BNDGO - Transcript name and strand of genes containing mate breakend</option> | |
| 693 <option value="CGA_BNDP">CGA_BNDP - Precision of breakend</option> | |
| 694 <option value="CGA_BNDMPC">CGA_BNDMPC - Mate pair count supporting a breakend</option> | |
| 695 <option value="CGA_BNDPOS">CGA_BNDPOS - Position of breakend as detected in individual genome</option> | |
| 696 <option value="CGA_BNDDEF">CGA_BNDDEF - Breakend definition in individual genome</option> | |
| 697 </param> | |
| 698 </when> | |
| 699 </conditional> | |
| 700 </when> | |
| 701 | |
| 702 <when value="3"> | |
| 703 <!--form field to select input sources--> | |
| 704 <conditional name="sources"> | |
| 705 <param name="source" type="select" label="Data sources to be included for each genome"> | |
| 706 <option value="masterVar,CNV" selected="true">masterVar + CNV</option> | |
| 707 <option value="masterVar">masterVar</option> | |
| 708 <option value="CNV">CNV</option> | |
| 709 </param> | |
| 710 | |
| 711 <when value="masterVar,CNV"> | |
| 712 <!--conditional to select inputs--> | |
| 713 <conditional name="data_sources"> | |
| 714 <param name="data_source" type="select" label="Where are the input files?"> | |
| 715 <option value="out" selected="true">located outside Galaxy (data on server or mounted drive)</option> | |
| 716 </param> | |
| 717 | |
| 718 <when value="out"> | |
| 719 <!--form field to select outside list of genome directories or mastervar files--> | |
| 720 <param name="input" type="text" label="File with list of genome root directories" size="200" help="Enter file name with full path (/path/file). This file should contain a list of genome root directory names, one per line in the format /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01)."> | |
| 721 <validator type="empty_field" message="You must supply the list of genome root directories"/> | |
| 722 </param> | |
| 723 </when> | |
| 724 </conditional> | |
| 725 | |
| 726 <!--form field to select no-calls--> | |
| 727 <param name="nocalls" type="select" label="Include no-calls?"> | |
| 728 <option value="" selected="true">no</option> | |
| 729 <option value="--nocalls">yes</option> | |
| 730 </param> | |
| 731 | |
| 732 <!--form field to enter calibration directory--> | |
| 733 <param name="calibration" type="text" size="300" label="Directory calibration data (/path/calibration-root)" help="The directory containing calibration data. For example, there should exist a file calibration-root/0.0.0/metrics.tsv. Calibration data can be downloaded from ftp://ftp.completegenomics.com/ScoreCalibrationFiles/var-calibration-v2.tgz"/> | |
| 734 | |
| 735 <!--form field to select field names to include in vcf--> | |
| 736 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 737 <option value="all" selected="true">-- all (default) --</option> | |
| 738 <option value="NS">NS - Number of samples</option> | |
| 739 <option value="AN">AN - Total number of alleles in called genotypes</option> | |
| 740 <option value="AC">AC - Allele count in genotypes</option> | |
| 741 <option value="CGA_XR">CGA_XR - External database reference</option> | |
| 742 <option value="CGA_FI">CGA_FI - Functional impact</option> | |
| 743 <option value="CGA_PFAM">CGA_PFAM - PFAM domain </option> | |
| 744 <option value="CGA_MIRB">CGA_MIRB - miRBaseId</option> | |
| 745 <option value="CGA_SDO">CGA_SDO - Depth of overlapping segmental duplications</option> | |
| 746 <option value="CGA_RPT">CGA_RPT - Overlapping repeatMasker annotations</option> | |
| 747 <option value="GT">GT - Genotype</option> | |
| 748 <option value="PS">PS - Phase set</option> | |
| 749 <option value="FT">FT - Sample genotype filters</option> | |
| 750 <option value="GL">GL - Genotype likelihoods</option> | |
| 751 <option value="CGA_CEHQ">CGA_CEHQ - Calibrated haplotype quality based on EAF assumption</option> | |
| 752 <option value="CGA_CEGL">CGA_CEGL - Genotype likelihoods based on CEHQ</option> | |
| 753 <option value="SS">SS - Somatic status</option> | |
| 754 <option value="HQ">HQ - Haplotype quality</option> | |
| 755 <option value="EHQ">EHQ - Haplotype quality based on EAF assumption</option> | |
| 756 <option value="GQ">GQ - Genotype quality</option> | |
| 757 <option value="DP">DP - Total read depth</option> | |
| 758 <option value="AD">AD - Allelic depths</option> | |
| 759 <option value="CGA_RDP">CGA_RDP - Read depth in reference</option> | |
| 760 <option value="CGA_ODP">CGA_ODP - Other total read depth: somatic comparison</option> | |
| 761 <option value="CGA_OAD">CGA_OAD - Other allelic depths: somatic comparison</option> | |
| 762 <option value="CGA_ORDP">CGA_ORDP - Other reference depth: somatic comparison </option> | |
| 763 <option value="CGA_SOMC">CGA_SOMC - Somatic Category</option> | |
| 764 <option value="CGA_SOMR">CGA_SOMR - Somatic Rank</option> | |
| 765 <option value="CGA_SOMS">CGA_SOMS - Somatic Score</option> | |
| 766 <option value="CGA_GP">CGA_GP - Normalized mean GC corrected coverage</option> | |
| 767 <option value="CGA_NP">CGA_NP - Normalized mean coverage for 2k window</option> | |
| 768 <option value="CGA_CP">CGA_CP - Diploid-model ploidy call for segment</option> | |
| 769 <option value="CGA_PS">CGA_PS - Diploid-model called ploidy score</option> | |
| 770 <option value="CGA_CT">CGA_CT - Diploid-model CNV type</option> | |
| 771 <option value="CGA_TS">CGA_TS - Diploid-model CNV type score</option> | |
| 772 <option value="CGA_CL">CGA_CL - Nondiploid-model called level</option> | |
| 773 <option value="CGA_LS">CGA_LS - Nondiploid-model called level score</option> | |
| 774 <option value="CGA_SCL">CGA_SCL - Nondiploid-model somatic called level</option> | |
| 775 <option value="CGA_SLS">CGA_SLS - Non-diploid-model somatic called level score</option> | |
| 776 <option value="CGA_LAF">CGA_LAF - Lesser Allele Fraction estimate, 100k window</option> | |
| 777 <option value="CGA_LLAF">CGA_LLAF - Lesser Allele Fraction lower bound, 100k window</option> | |
| 778 <option value="CGA_ULAF">CGA_ULAF - Lesser Allele Fraction upper bound, 100k window</option> | |
| 779 </param> | |
| 780 </when> | |
| 781 | |
| 782 <when value="masterVar"> | |
| 783 <!--conditional to select inputs--> | |
| 784 <conditional name="data_sources"> | |
| 785 <param name="data_source" type="select" label="Where are the input files?"> | |
| 786 <option value="in" selected="true">imported into Galaxy</option> | |
| 787 <option value="out">located outside Galaxy (data on server or mounted drive)</option> | |
| 788 </param> | |
| 789 | |
| 790 <when value="in"> | |
| 791 <!--form field to select mastervar files--> | |
| 792 <repeat name="files" title="MasterVar files" min="1"> | |
| 793 <param name="input" type="data" format="cg_mastervar" label="Dataset"> | |
| 794 <validator type="dataset_ok_validator" /> | |
| 795 <validator type="dataset_metadata_in_file" filename="cg_crr_files.loc" | |
| 796 metadata_name="dbkey" metadata_column="1" | |
| 797 message="cgatools is not currently available for this build."/> | |
| 798 </param> | |
| 799 </repeat> | |
| 800 </when> | |
| 801 | |
| 802 <when value="out"> | |
| 803 <!--form field to enter input file--> | |
| 804 <param name="input" type="text" label="File with list of genome root directories or masterVar files" size="200" help="Enter file name with full path (/path/file). This file should contain a list of genome root directory names, one per line in the format /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01), or a list of masterVar files, one per line in the format /path/masterVarfile (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01/ASM/masterVarBeta-GS00000YYYY-ASM.tsv.bz2)."> | |
| 805 <validator type="empty_field" message="You must supply the list of genome root directories or masterVar files"/> | |
| 806 </param> | |
| 807 </when> | |
| 808 </conditional> | |
| 809 | |
| 810 <!--form field to select no-calls--> | |
| 811 <param name="nocalls" type="select" label="Include no-calls?"> | |
| 812 <option value="" selected="true">no</option> | |
| 813 <option value="--nocalls">yes</option> | |
| 814 </param> | |
| 815 | |
| 816 <!--form field to enter calibration directory--> | |
| 817 <param name="calibration" type="text" size="300" label="Directory calibration data (/path/calibration-root)" help="The directory containing calibration data. For example, there should exist a file calibration-root/0.0.0/metrics.tsv. Calibration data can be downloaded from ftp://ftp.completegenomics.com/ScoreCalibrationFiles/var-calibration-v2.tgz"/> | |
| 818 | |
| 819 <!--form field to select field names to include in vcf--> | |
| 820 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 821 <option value="all" selected="true">-- all (default) --</option> | |
| 822 <option value="NS">NS - Number of samples</option> | |
| 823 <option value="AN">AN - Total number of alleles in called genotypes</option> | |
| 824 <option value="AC">AC - Allele count in genotypes</option> | |
| 825 <option value="CGA_XR">CGA_XR - External database reference</option> | |
| 826 <option value="CGA_FI">CGA_FI - Functional impact</option> | |
| 827 <option value="CGA_PFAM">CGA_PFAM - PFAM domain </option> | |
| 828 <option value="CGA_MIRB">CGA_MIRB - miRBaseId</option> | |
| 829 <option value="CGA_SDO">CGA_SDO - Depth of overlapping segmental duplications</option> | |
| 830 <option value="CGA_RPT">CGA_RPT - Overlapping repeatMasker annotations</option> | |
| 831 <option value="GT">GT - Genotype</option> | |
| 832 <option value="PS">PS - Phase set</option> | |
| 833 <option value="FT">FT - Sample genotype filters</option> | |
| 834 <option value="GL">GL - Genotype likelihoods</option> | |
| 835 <option value="CGA_CEHQ">CGA_CEHQ - Calibrated haplotype quality based on EAF assumption</option> | |
| 836 <option value="CGA_CEGL">CGA_CEGL - Genotype likelihoods based on CEHQ</option> | |
| 837 <option value="SS">SS - Somatic status</option> | |
| 838 <option value="HQ">HQ - Haplotype quality</option> | |
| 839 <option value="EHQ">EHQ - Haplotype quality based on EAF assumption</option> | |
| 840 <option value="GQ">GQ - Genotype quality</option> | |
| 841 <option value="DP">DP - Total read depth</option> | |
| 842 <option value="AD">AD - Allelic depths</option> | |
| 843 <option value="CGA_RDP">CGA_RDP - Read depth in reference</option> | |
| 844 <option value="CGA_ODP">CGA_ODP - Other total read depth: somatic comparison</option> | |
| 845 <option value="CGA_OAD">CGA_OAD - Other allelic depths: somatic comparison</option> | |
| 846 <option value="CGA_ORDP">CGA_ORDP - Other reference depth: somatic comparison </option> | |
| 847 <option value="CGA_SOMC">CGA_SOMC - Somatic Category</option> | |
| 848 <option value="CGA_SOMR">CGA_SOMR - Somatic Rank</option> | |
| 849 <option value="CGA_SOMS">CGA_SOMS - Somatic Score</option> | |
| 850 </param> | |
| 851 </when> | |
| 852 | |
| 853 <when value="CNV"> | |
| 854 <!--conditional to select inputs--> | |
| 855 <conditional name="data_sources"> | |
| 856 <param name="data_source" type="select" label="Where are the input files?"> | |
| 857 <option value="out" selected="true">located outside Galaxy (data on server or mounted drive)</option> | |
| 858 </param> | |
| 859 | |
| 860 <when value="out"> | |
| 861 <!--form field to enter input file--> | |
| 862 <param name="input" type="text" label="File with list of genome root directories" size="200" help="Enter file name with full path (/path/file). This file should contain a list of genome root directory names, one per line in the format /path/dir (e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01)."> | |
| 863 <validator type="empty_field" message="You must supply the list of genome root directories"/> | |
| 864 </param> | |
| 865 </when> | |
| 866 </conditional> | |
| 867 | |
| 868 <!--form field to select field names to include in vcf--> | |
| 869 <param name="fields" type="select" label="Field names to be included in vcf file" multiple="true" help="Select all field names (default) or a collection of individual field names."> | |
| 870 <option value="all" selected="true">-- all (default) --</option> | |
| 871 <option value="GT">GT - Genotype</option> | |
| 872 <option value="CGA_GP">CGA_GP - Normalized mean GC corrected coverage</option> | |
| 873 <option value="CGA_NP">CGA_NP - Normalized mean coverage for 2k window</option> | |
| 874 <option value="CGA_CP">CGA_CP - Diploid-model ploidy call for segment</option> | |
| 875 <option value="CGA_PS">CGA_PS - Diploid-model called ploidy score</option> | |
| 876 <option value="CGA_CT">CGA_CT - Diploid-model CNV type</option> | |
| 877 <option value="CGA_TS">CGA_TS - Diploid-model CNV type score</option> | |
| 878 <option value="CGA_CL">CGA_CL - Nondiploid-model called level</option> | |
| 879 <option value="CGA_LS">CGA_LS - Nondiploid-model called level score</option> | |
| 880 <option value="CGA_SCL">CGA_SCL - Nondiploid-model somatic called level</option> | |
| 881 <option value="CGA_SLS">CGA_SLS - Non-diploid-model somatic called level score</option> | |
| 882 <option value="CGA_LAF">CGA_LAF - Lesser Allele Fraction estimate, 100k window</option> | |
| 883 <option value="CGA_LLAF">CGA_LLAF - Lesser Allele Fraction lower bound, 100k window</option> | |
| 884 <option value="CGA_ULAF">CGA_ULAF - Lesser Allele Fraction upper bound, 100k window</option> | |
| 885 </param> | |
| 886 </when> | |
| 887 </conditional> | |
| 888 </when> | |
| 889 </conditional> | |
| 890 </inputs> | |
| 891 | |
| 892 <help> | |
| 893 | |
| 894 **What it does** | |
| 895 | |
| 896 This tool uses cgatools mkvcf to convert Complete Genomics masterVar files, including CNV, SV and/or MEI data, to vcf format version. | |
| 897 | |
| 898 **cgatools 1.6.0 Documentation** | |
| 899 | |
| 900 Userguide: http://cgatools.sourceforge.net/docs/1.6.0/cgatools-user-guide.pdf | |
| 901 | |
| 902 Release notes: http://cgatools.sourceforge.net/docs/1.6.0/cgatools-release-notes.pdf | |
| 903 | |
| 904 **Command line reference**:: | |
| 905 | |
| 906 COMMAND NAME | |
| 907 mkvcf - Converts var file(s) or masterVar file(s) to VCF. | |
| 908 | |
| 909 DESCRIPTION | |
| 910 Converts var file(s) or masterVar file(s) to VCF. | |
| 911 | |
| 912 OPTIONS | |
| 913 -h [ --help ] | |
| 914 Print this help message. | |
| 915 | |
| 916 --beta | |
| 917 This is a beta command. To run this command, you must pass the --beta | |
| 918 flag. | |
| 919 | |
| 920 --reference arg | |
| 921 The reference crr file. | |
| 922 | |
| 923 --output arg (=STDOUT) | |
| 924 The output file (may be omitted for stdout). | |
| 925 | |
| 926 --field-names arg (=GT,PS,NS,AN,AC,SS,FT,CGA_XR,CGA_FI,GQ,HQ,EHQ,CGA_CEHQ,GL, | |
| 927 CGA_CEGL,DP,AD,CGA_RDP,CGA_ODP,CGA_OAD,CGA_ORDP,CGA_PFAM,CGA_MIRB,CGA_RPT, | |
| 928 CGA_SDO,CGA_SOMC,CGA_SOMR,CGA_SOMS,CGA_GP,CGA_NP,CGA_CP,CGA_PS,CGA_CT, | |
| 929 CGA_TS,CGA_CL,CGA_LS,CGA_SCL,CGA_SLS,CGA_LAF,CGA_LLAF,CGA_ULAF,CGA_IS, | |
| 930 CGA_IDC,CGA_IDCL,CGA_IDCR,CGA_RDC,CGA_NBET,CGA_ETS,CGA_KES,CGA_BF, | |
| 931 CGA_MEDEL,MATEID,SVTYPE,CGA_BNDG,CGA_BNDGO,CGA_BNDMPC,CGA_BNDPOS,CGA_BNDDEF, | |
| 932 CGA_BNDP) | |
| 933 Comma-separated list of field names. By default, all fields are | |
| 934 included, but you may override this option to ensure only a subset of | |
| 935 the fields is included in the VCF output. For a description of each | |
| 936 field, see the cgatools user guide. | |
| 937 | |
| 938 --source-names arg (=masterVar,CNV,SV,MEI) | |
| 939 Comma-separated list of source names. The following source names are | |
| 940 available: | |
| 941 masterVar - Includes records extracted from the masterVar file. | |
| 942 CNV - Includes CNV-related records. | |
| 943 SV - Includes records derived from junctions files. | |
| 944 MEI - Includes records describing mobile element insertions. | |
| 945 Some of these source types are only available for more recent pipeline | |
| 946 versions, and some of these source types do not support multi-genome | |
| 947 VCFs. For more information about which source types are available for | |
| 948 which versions of the Complete Genomics pipeline software, see the | |
| 949 cgatools user guide. | |
| 950 | |
| 951 --genome-root arg | |
| 952 For each genome to include in the VCF, the genome root directory, for | |
| 953 example /data/GS00118-DNA_A01; this directory is expected to contain | |
| 954 the ASM and LIB subdirectories, for example. You must supply this | |
| 955 option for each genome in the VCF, unless you are using | |
| 956 --source-names=masterVar and you have specified the --master-var option | |
| 957 for each genome in the VCF. | |
| 958 | |
| 959 --master-var arg | |
| 960 For each genome to include in the VCF, the masterVar file. If | |
| 961 genome-roots parameter is given, this parameter defaults to the | |
| 962 masterVar in the given genome-root. | |
| 963 | |
| 964 --include-no-calls | |
| 965 Small variants VCF records include loci that have no | |
| 966 reference-inconsistent calls. | |
| 967 | |
| 968 --calibration-root arg | |
| 969 The directory containing calibration data. For example, there should | |
| 970 exist a file calibration-root/version0.0.0/metrics.tsv. This option is only | |
| 971 required if CGA_CEHQ or CGA_CEGL are included in the --field-names | |
| 972 parameter. | |
| 973 | |
| 974 --junction-file arg | |
| 975 For each genome to include in the VCF, the junctions file. If | |
| 976 genome-roots parameter is given, this parameter defaults to the | |
| 977 respective junctions file in the export directory. | |
| 978 | |
| 979 --junction-score-threshold arg (=10) | |
| 980 Junction score thresholds (discordant mate pair count). | |
| 981 | |
| 982 --junction-side-length-threshold arg (=70) | |
| 983 Junction side length threshold. | |
| 984 | |
| 985 --junction-distance-tolerance arg (=200) | |
| 986 Distance tolerance for junction compatibility. | |
| 987 | |
| 988 --junction-length-threshold arg (=500) | |
| 989 Length threshold for compatible junctions. | |
| 990 | |
| 991 --junction-normal-priority | |
| 992 Normal junction priority for vcf output. | |
| 993 | |
| 994 --junction-tumor-hc | |
| 995 use high confidence junctions for tumors. | |
| 996 | |
| 997 | |
| 998 SUPPORTED FORMAT_VERSION | |
| 999 0.3 or later | |
| 1000 </help> | |
| 1001 </tool> |
