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| author | completegenomics |
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| date | Mon, 18 Jun 2012 20:15:00 -0400 |
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<tool id="cg_calldiff" name="calldiff(beta) 1.5" version="1.0.0"> <!-- This tool creates a GUI for the calldiff function of cgatools from Complete Genomics, Inc. written 6-18-2012 by bcrain@completegenomics.com --> <description>compares two Complete Genomics variant files.</description> <!--adds description in toolbar--> <requirements> <requirement type="binary">cgatools</requirement> </requirements> <command> <!--run executable--> cgatools | head -1; cgatools calldiff --beta --reference ${crr.fields.path} --variantsA $data_sources.inputA --variantsB $data_sources.inputB $validation $diploid --locus-stats-column-count $column --max-hypothesis-count $hypothesis --output-prefix cg_ --reports `echo ${report1} ${report2} ${report3} ${report4} ${report5} ${somatic.report6} | sed 's/ */,/g'` #if $somatic.report6 == "SomaticOutput" --genome-rootA $somatic.genomeA --genome-rootB $somatic.genomeB --calibration-root $somatic.calibration #end if </command> <outputs> <data format="tabular" name="output1" from_work_dir="cg_SuperlocusOutput.tsv" label="${tool.name} on ${on_string}: SuperlocusOutput"> <filter>(report1 == 'SuperlocusOutput')</filter> </data> <data format="tabular" name="output2" from_work_dir="cg_SuperlocusStats.tsv" label="${tool.name} on ${on_string}: SuperlocusStats"> <filter>(report2 == 'SuperlocusStats')</filter> </data> <data format="tabular" name="output3" from_work_dir="cg_LocusOutput.tsv" label="${tool.name} on ${on_string}: LocusOutput"> <filter>(report3 == 'LocusOutput')</filter> </data> <data format="tabular" name="output4" from_work_dir="cg_LocusStats.tsv" label="${tool.name} on ${on_string}: LocusStats"> <filter>(report4 == 'LocusStats')</filter> </data> <data format="tabular" name="output5a" from_work_dir="cg_VariantsA.tsv" label="${tool.name} on ${on_string}: VariantsA"> <filter>(report5 == 'VariantOutput')</filter> </data> <data format="tabular" name="output5b" from_work_dir="cg_VariantsB.tsv" label="${tool.name} on ${on_string}: VariantsB"> <filter>(report5 == 'VariantOutput')</filter> </data> <data format="tabular" name="output6" from_work_dir="cg_SomaticOutput.tsv" label="${tool.name} on ${on_string}: SomaticOutput"> <filter>(somatic['report6'] == 'SomaticOutput')</filter> </data> </outputs> <inputs> <!--form field to select crr file--> <param name="crr" type="select" label="Reference genome (.crr file)"> <options from_data_table="cg_crr_files" /> </param> <!--conditional to select variant file input--> <conditional name="data_sources"> <param name="data_source" type="select" label="Where are the input varfiles?"> <option value="in" selected="true">imported into Galaxy</option> <option value="out">located outside Galaxy (available only for local Galaxy instances)</option> </param> <when value="in"> <!--form field to select variant files--> <param name="inputA" type="data" format="cg_var" label="Var file A"> <validator type="unspecified_build" /> <validator type="dataset_metadata_in_file" filename="cg_crr_files.loc" metadata_name="dbkey" metadata_column="1" message="cgatools is not currently available for this build."/> </param> <param name="inputB" type="data" format="cg_var" label="Var file B"> <validator type="unspecified_build" /> <validator type="dataset_metadata_in_file" filename="cg_crr_files.loc" metadata_name="dbkey" metadata_column="1" message="cgatools is not currently available for this build."/> </param> </when> <when value="out"> <!--form field to select crr file--> <param name="inputA" type="text" label="Variant file A (/path/varfile)" size="300" help="Variant file can be compressed (gz, bz2), e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01_2000/ASM/var-GS00000YYYY-ASM.tsv.bz2"/> <param name="inputB" type="text" label="Variant file B (/path/varfile)" size="300" help="Variant file can be compressed (gz, bz2), e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01_2000/ASM/var-GS00000YYYY-ASM.tsv.bz2."/> </when> </conditional> <param name="diploid" type="select" label="Use diploid variant model" help="Uses varScoreEAF instead of varScoreVAF in somatic score computations. Also, uses diploid variant model instead of variable allele mixture model."> <option value="">no</option> <option value="--diploid">yes</option> </param> <param name="column" type="integer" label="Number of columns for locus compare classification in the locus stats file (default 15)" value="15"/> <param name="hypothesis" type="integer" label="Maximum number of possible phasings to consider for a superlocus (default 32)" value="32"/> <param name="validation" type="select" label="Reference cover validation" help="Turns on/off validation that all bases of a chromosome are covered by calls of the variant file."> <option value="">on</option> <option value="--no-reference-cover-validation">off</option> </param> <param name="report1" type="select" label="Create report SuperlocusOutput"> <option value="">no</option> <option value="SuperlocusOutput">yes</option> </param> <param name="report2" type="select" label="Create report SuperlocusStats"> <option value="">no</option> <option value="SuperlocusStats">yes</option> </param> <param name="report3" type="select" label="Create report LocusOutput"> <option value="">no</option> <option value="LocusOutput">yes</option> </param> <param name="report4" type="select" label="Create report LocusStats"> <option value="">no</option> <option value="LocusStats">yes</option> </param> <param name="report5" type="select" label="Create report VariantOutput" help="Both variant files annotated by comparison results.If the somatic output report is requested, file A is also annotated with the same score ranks as produced in that report."> <option value="">no</option> <option value="VariantOutput">yes</option> </param> <conditional name="somatic"> <param name="report6" type="select" label="Create report SomaticOutput" help="This report can only be generated on local Galaxy instances. Report for the list of simple variations that are present only in file 'A', annotated with the score that indicates the probability of the variation being truly somatic. Note: generating this report slows calldiff by 10x-20x."> <option value="">no</option> <option value="SomaticOutput">yes</option> </param> <when value="SomaticOutput"> <param name="genomeA" type="text" size="300" label="Directory for genome A (/path/dir)" help="The 'A' genome directory, e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01_2000; this directory is expected to contain ASM/REF and ASM/EVIDENCE subdirectories."/> <param name="genomeB" type="text" size="300" label="Directory for genome B (/path/dir)" help="The 'B' genome directory, e.g. /harddrive/GS00000XXXX-DID/GS00000YYYY-ASM/GS00123-DNA_G01_2000; this directory is expected to contain ASM/REF and ASM/EVIDENCE subdirectories."/> <param name="calibration" type="text" size="300" label="Directory calibration data (/path/dir)" 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-v1.tgz"/> </when> </conditional> </inputs> <help> **What it does** This tool compares two Complete Genomics variant files. **cgatools 1.5.0 Documentation** Userguide: http://cgatools.sourceforge.net/docs/1.5.0/cgatools-user-guide.pdf Release notes: http://cgatools.sourceforge.net/docs/1.5.0/cgatools-release-notes.pdf **Command line reference**:: COMMAND NAME calldiff - Compares two Complete Genomics variant files. DESCRIPTION Compares two Complete Genomics variant files. Divides the genome up into superloci of nearby variants, then compares the superloci. Also refines the comparison to determine per-call or per-locus comparison results. Comparison results are usually described by a semi-colon separated string, one per allele. Each allele's comparison result is one of the following classifications: ref-identical The alleles of the two variant files are identical, and they are consistent with the reference. alt-identical The alleles of the two variant files are identical, and they are inconsistent with the reference. ref-consistent The alleles of the two variant files are consistent, and they are consistent with the reference. alt-consistent The alleles of the two variant files are consistent, and they are inconsistent with the reference. onlyA The alleles of the two variant files are inconsistent, and only file A is inconsistent with the reference. onlyB The alleles of the two variant files are inconsistent, and only file B is inconsistent with the reference. mismatch The alleles of the two variant files are inconsistent, and they are both inconsistent with the reference. phase-mismatch The two variant files would be consistent if the hapLink field had been empty, but they are inconsistent. ploidy-mismatch The superlocus did not have uniform ploidy. In some contexts, this classification is rolled up into a simplified classification, which is one of "identical", "consistent", "onlyA", "onlyB", or "mismatch". A good place to start looking at the results is the superlocus-output file. It has columns defined as follows: SuperlocusId An identifier given to the superlocus. Chromosome The name of the chromosome. Begin The 0-based offset of the start of the superlocus. End The 0-based offset of the base one past the end of the superlocus. Classification The match classification of the superlocus. Reference The reference sequence. AllelesA A semicolon-separated list of the alleles (one per haplotype) for variant file A, for the phasing with the best comparison result. AllelesB A semicolon-separated list of the alleles (one per haplotype) for variant file B, for the phasing with the best comparison result. The locus-output file contains, for each locus in file A and file B that is not consistent with the reference, an annotated set of calls for the locus. The calls are annotated with the following columns: SuperlocusId The id of the superlocus containing the locus. File The variant file (A or B). LocusClassification The locus classification is determined by the varType column of the call that is inconsistent with the reference, concatenated with a modifier that describes whether the locus is heterozygous, homozygous, or contains no-calls. If there is no one variant in the locus (i.e., it is heterozygous alt-alt), the locus classification begins with "other". LocusDiffClassification The match classification for the locus. This is defined to be the best of the comparison of the locus to the same region in the other file, or the comparison of the superlocus. The somatic output file contains a list of putative somatic variations of genome A. The output includes only those loci that can be classified as snp, del, ins or sub in file A, and are called reference in the file B. Every locus is annotated with the following columns: VarCvgA The totalReadCount from file A for this locus (computed on the fly if file A is not a masterVar file). VarScoreA The varScoreVAF from file A, or varScoreEAF if the "--diploid" option is used. RefCvgB The maximum of the uniqueSequenceCoverage values for the locus in genome B. RefScoreB Minimum of the reference scores of the locus in genome B. SomaticCategory The category used for determining the calibrated scores and the SomaticRank. VarScoreACalib The calibrated variant score of file A, under the model selected by using or not using the "--diploid" option, and corrected for the count of heterozygous variants observed in this genome. See user guide for more information. VarScoreBCalib The calibrated reference score of file B, under the model selected by using or not using the "--diploid" option, and corrected for the count of heterozygous variants observed in this genome. See user guide for more information. SomaticRank The estimated rank of this somatic mutation, amongst all true somatic mutations within this SomaticCategory. The value is a number between 0 and 1; a value of 0.012 means, for example, that an estimated 1.2% of the true somatic mutations in this somaticCategory have a somaticScore less than the somaticScore for this mutation. See user guide for more information. SomaticScore An integer that provides a total order on quality for all somatic mutations. It is equal to -10*log10( P(false)/P(true) ), under the assumption that this genome has a rate of somatic mutation equal to 1/Mb for SomaticCategory snp, 1/10Mb for SomaticCategory ins, 1/10Mb for SomaticCategory del, and 1/20Mb for SomaticCategory sub. The computation is based on the assumptions described in the user guide, and is affected by choice of variant model selected by using or not using the "--diploid" option. SomaticQuality Equal to VQHIGH for all somatic mutations where SomaticScore >= -10. Otherwise, this column is empty. OPTIONS -h [ --help ] Print this help message. --reference arg The input crr file. --variantsA arg The "A" input variant file. --variantsB arg The "B" input variant file. --output-prefix arg The path prefix for all output reports. --reports arg (=SuperlocusOutput,SuperlocusStats,LocusOutput,LocusStats) Comma-separated list of reports to generate. (Beware any reports whose name begins with "Debug".) A report is one of: SuperlocusOutput Report for superlocus classification. SuperlocusStats Report for superlocus classification stats. LocusOutput Report for locus classification. LocusStats Report for locus stats. VariantOutput Both variant files annotated by comparison results.If the somatic output report is requested, file A is also annotated with the same score ranks as produced in that report. SomaticOutput Report for the list of simple variations that are present only in file "A", annotated with the score that indicates the probability of the variation being truly somatic. Requires beta, genome-rootA, and genome-rootB options to be provided as well. Note: generating this report slows calldiff by 10x-20x. DebugCallOutput Report for call classification. DebugSuperlocusOutput Report for debug superlocus information. DebugSomaticOutput Report for distribution estimates used for somatic rescoring. Only produced if SomaticOutput is also turned on. --diploid Uses varScoreEAF instead of varScoreVAF in somatic score computations. Also, uses diploid variant model instead of variable allele mixture model. --locus-stats-column-count arg (=15) The number of columns for locus compare classification in the locus stats file. --max-hypothesis-count arg (=32) The maximum number of possible phasings to consider for a superlocus. --no-reference-cover-validation Turns off validation that all bases of a chromosome are covered by calls of the variant file. --genome-rootA arg The "A" genome directory, for example /data/GS00118-DNA_A01; this directory is expected to contain ASM/REF and ASM/EVIDENCE subdirectories. --genome-rootB arg The "B" genome directory. --calibration-root arg The directory containing calibration data. For example, there should exist a file calibration-root/0.0.0/metrics.tsv. --beta This flag enables the SomaticOutput report, which is beta functionality. SUPPORTED FORMAT_VERSION 0.3 or later </help> </tool>