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comparison 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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1 <tool id="cga_snpdiff" name="snpdiff" version="0.0.1"> | |
2 | |
3 <description>compares snp calls to a Complete Genomics variant file.</description> <!--adds description in toolbar--> | |
4 | |
5 <requirements> | |
6 <requirement type="binary">cgatools</requirement> | |
7 </requirements> | |
8 | |
9 <command> <!--run executable--> | |
10 cgatools snpdiff --beta -h | |
11 </command> | |
12 | |
13 <outputs> | |
14 <data format="tabular" name="output" /> | |
15 </outputs> | |
16 | |
17 <inputs> | |
18 </inputs> | |
19 | |
20 <help> | |
21 | |
22 **What it does** | |
23 | |
24 This tool ompares snp calls to a Complete Genomics variant file. | |
25 | |
26 cgatools: http://sourceforge.net/projects/cgatools/files/ | |
27 | |
28 ----- | |
29 | |
30 **cgatools Manual**:: | |
31 | |
32 COMMAND NAME | |
33 snpdiff - Compares snp calls to a Complete Genomics variant file. | |
34 | |
35 DESCRIPTION | |
36 Compares the snp calls in the "genotypes" file to the calls in a Complete | |
37 Genomics variant file. The genotypes file is a tab-delimited file with at | |
38 least the following columns (additional columns may be given): | |
39 | |
40 Chromosome (Required) The name of the chromosome. | |
41 Offset0Based (Required) The 0-based offset in the chromosome. | |
42 GenotypesStrand (Optional) The strand of the calls in the Genotypes | |
43 column (+ or -, defaults to +). | |
44 Genotypes (Optional) The calls, one per allele. The following | |
45 calls are recognized: | |
46 A,C,G,T A called base. | |
47 N A no-call. | |
48 - A deleted base. | |
49 . A non-snp variation. | |
50 | |
51 The output is a tab-delimited file consisting of the columns of the | |
52 original genotypes file, plus the following additional columns: | |
53 | |
54 Reference The reference base at the given position. | |
55 VariantFile The calls made by the variant file, one per allele. | |
56 The character codes are the same as is described for | |
57 the Genotypes column. | |
58 DiscordantAlleles (Only if Genotypes is present) The number of | |
59 Genotypes alleles that are discordant with calls in | |
60 the VariantFile. If the VariantFile is described as | |
61 haploid at the given position but the Genotypes is | |
62 diploid, then each genotype allele is compared | |
63 against the haploid call of the VariantFile. | |
64 NoCallAlleles (Only if Genotypes is present) The number of | |
65 Genotypes alleles that were no-called by the | |
66 VariantFile. If the VariantFile is described as | |
67 haploid at the given position but the Genotypes is | |
68 diploid, then a VariantFile no-call is counted twice. | |
69 | |
70 The verbose output is a tab-delimited file consisting of the columns of the | |
71 original genotypes file, plus the following additional columns: | |
72 | |
73 Reference The reference base at the given position. | |
74 VariantFile The call made by the variant file for one allele (there is | |
75 a line in this file for each allele). The character codes | |
76 are the same as is described for the Genotypes column. | |
77 [CALLS] The rest of the columns are pasted in from the VariantFile, | |
78 describing the variant file line used to make the call. | |
79 | |
80 The stats output is a comma-separated file with several tables describing | |
81 the results of the snp comparison, for each diploid genotype. The tables | |
82 all describe the comparison result (column headers) versus the genotype | |
83 classification (row labels) in different ways. The "Locus classification" | |
84 tables have the most detailed match classifications, while the "Locus | |
85 concordance" tables roll these match classifications up into "discordance" | |
86 and "no-call". A locus is considered discordant if it is discordant for | |
87 either allele. A locus is considered no-call if it is concordant for both | |
88 alleles but has a no-call on either allele. The "Allele concordance" | |
89 describes the comparison result on a per-allele basis. | |
90 | |
91 OPTIONS | |
92 -h [ --help ] | |
93 Print this help message. | |
94 | |
95 --reference arg | |
96 The input crr file. | |
97 | |
98 --variants arg | |
99 The input variant file. | |
100 | |
101 --genotypes arg | |
102 The input genotypes file. | |
103 | |
104 --output-prefix arg | |
105 The path prefix for all output reports. | |
106 | |
107 --reports arg (=Output,Verbose,Stats) | |
108 Comma-separated list of reports to generate. A report is one of: | |
109 Output The output genotypes file. | |
110 Verbose The verbose output file. | |
111 Stats The stats output file. | |
112 | |
113 SUPPORTED FORMAT_VERSION | |
114 0.3 or later | |
115 </help> | |
116 </tool> |