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view cgatools_suite/tools/cgatools/snpdiff.xml @ 7:96829b1b73ea draft
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author | bcrain-completegenomics |
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date | Wed, 06 Jun 2012 16:58:26 -0400 |
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<tool id="cga_snpdiff" name="snpdiff" version="0.0.1"> <description>compares snp calls to a Complete Genomics variant file.</description> <!--adds description in toolbar--> <requirements> <requirement type="binary">cgatools</requirement> </requirements> <command> <!--run executable--> cgatools snpdiff --beta -h </command> <outputs> <data format="tabular" name="output" /> </outputs> <inputs> </inputs> <help> **What it does** This tool ompares snp calls to a Complete Genomics variant file. cgatools: http://sourceforge.net/projects/cgatools/files/ ----- **cgatools Manual**:: COMMAND NAME snpdiff - Compares snp calls to a Complete Genomics variant file. DESCRIPTION Compares the snp calls in the "genotypes" file to the calls in a Complete Genomics variant file. The genotypes file is a tab-delimited file with at least the following columns (additional columns may be given): Chromosome (Required) The name of the chromosome. Offset0Based (Required) The 0-based offset in the chromosome. GenotypesStrand (Optional) The strand of the calls in the Genotypes column (+ or -, defaults to +). Genotypes (Optional) The calls, one per allele. The following calls are recognized: A,C,G,T A called base. N A no-call. - A deleted base. . A non-snp variation. The output is a tab-delimited file consisting of the columns of the original genotypes file, plus the following additional columns: Reference The reference base at the given position. VariantFile The calls made by the variant file, one per allele. The character codes are the same as is described for the Genotypes column. DiscordantAlleles (Only if Genotypes is present) The number of Genotypes alleles that are discordant with calls in the VariantFile. If the VariantFile is described as haploid at the given position but the Genotypes is diploid, then each genotype allele is compared against the haploid call of the VariantFile. NoCallAlleles (Only if Genotypes is present) The number of Genotypes alleles that were no-called by the VariantFile. If the VariantFile is described as haploid at the given position but the Genotypes is diploid, then a VariantFile no-call is counted twice. The verbose output is a tab-delimited file consisting of the columns of the original genotypes file, plus the following additional columns: Reference The reference base at the given position. VariantFile The call made by the variant file for one allele (there is a line in this file for each allele). The character codes are the same as is described for the Genotypes column. [CALLS] The rest of the columns are pasted in from the VariantFile, describing the variant file line used to make the call. The stats output is a comma-separated file with several tables describing the results of the snp comparison, for each diploid genotype. The tables all describe the comparison result (column headers) versus the genotype classification (row labels) in different ways. The "Locus classification" tables have the most detailed match classifications, while the "Locus concordance" tables roll these match classifications up into "discordance" and "no-call". A locus is considered discordant if it is discordant for either allele. A locus is considered no-call if it is concordant for both alleles but has a no-call on either allele. The "Allele concordance" describes the comparison result on a per-allele basis. OPTIONS -h [ --help ] Print this help message. --reference arg The input crr file. --variants arg The input variant file. --genotypes arg The input genotypes file. --output-prefix arg The path prefix for all output reports. --reports arg (=Output,Verbose,Stats) Comma-separated list of reports to generate. A report is one of: Output The output genotypes file. Verbose The verbose output file. Stats The stats output file. SUPPORTED FORMAT_VERSION 0.3 or later </help> </tool>