Mercurial > repos > bgruening > vt_decompose
comparison vt_decompose.xml @ 0:490e605d1f44 draft default tip
planemo upload for repository https://github.com/atks/vt commit 5f1e53104d11817b9f1f93c4df17b77c80bd7472-dirty
| author | bgruening |
|---|---|
| date | Sat, 04 Jun 2016 12:45:04 -0400 |
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| children |
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| -1:000000000000 | 0:490e605d1f44 |
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| 1 <tool id="vt_decompose" name="VT @BINARY@" version="@VERSION@.0"> | |
| 2 <description>decomposes multiallelic variants into biallelic ones</description> | |
| 3 <macros> | |
| 4 <import>vt_macros.xml</import> | |
| 5 <token name="@BINARY@">decompose</token> | |
| 6 </macros> | |
| 7 <expand macro="requirements" /> | |
| 8 <expand macro="stdio" /> | |
| 9 <expand macro="version_command" /> | |
| 10 <command> | |
| 11 <![CDATA[ | |
| 12 | |
| 13 ln -s "${ infile }" infile.vcf && | |
| 14 | |
| 15 | |
| 16 vt @BINARY@ | |
| 17 #if str($output_format) == 'bcf': | |
| 18 -o decompose.bcf | |
| 19 #else: | |
| 20 -o decompose.vcf | |
| 21 #end if | |
| 22 $s | |
| 23 infile.vcf | |
| 24 | |
| 25 && | |
| 26 ## For some reason, the file move will randomly produce empty files. | |
| 27 ## Wait two seconds to let the system close file handlers and clean up. | |
| 28 sleep 2 | |
| 29 && | |
| 30 | |
| 31 #if str($output_format) == 'bcf': | |
| 32 mv decompose.bcf "${ outfile }"; | |
| 33 #else: | |
| 34 mv decompose.vcf "${ outfile }"; | |
| 35 #end if | |
| 36 | |
| 37 ]]> | |
| 38 </command> | |
| 39 <inputs> | |
| 40 <param name="infile" type="data" format="vcf" label="VCF file to be normalised" /> | |
| 41 | |
| 42 <param argument="-s" type="boolean" truevalue="-s" falsevalue="" | |
| 43 selected="false" label="Smart decomposition" | |
| 44 help="Splits up INFO and GENOTYPE fields that have number counts of R and A appropriately."/> | |
| 45 | |
| 46 <param name="output_format" type="select" label="Choose the output format" help=""> | |
| 47 <option value="bcf">BCF</option> | |
| 48 <option value="vcf" selected="true">VCF</option> | |
| 49 </param> | |
| 50 </inputs> | |
| 51 <outputs> | |
| 52 <data name="outfile" format="vcf" label="${tool.name} on ${on_string}"> | |
| 53 <change_format> | |
| 54 <when input="output_format" value="bcf" format="bcf" /> | |
| 55 </change_format> | |
| 56 </data> | |
| 57 </outputs> | |
| 58 <tests> | |
| 59 <test> | |
| 60 <param name="infile" value="infile01.vcf" /> | |
| 61 <output name="outfile" file="decompose_result01.vcf" ftype="vcf" /> | |
| 62 </test> | |
| 63 <test> | |
| 64 <param name="infile" value="infile02.vcf" /> | |
| 65 <param name="s" value="True" /> | |
| 66 <output name="outfile" file="decompose_result02.vcf" ftype="vcf" /> | |
| 67 </test> | |
| 68 </tests> | |
| 69 <help> | |
| 70 <![CDATA[ | |
| 71 | |
| 72 **What it does** | |
| 73 | |
| 74 Decompose multiallelic variants in a VCF file. | |
| 75 If the VCF file has genotype fields GT,PL, GL or DP, they are modified to reflect the change in alleles. | |
| 76 All other genotype fields are removed. The -s option will retain the fields and decompose fields of counts R and A accordingingly. | |
| 77 | |
| 78 Decomposition and combining variants is a complex operation where the correctness is dependent on: | |
| 79 | |
| 80 * whether the observed variants are seen in the same sample | |
| 81 * if same sample, whether they are homozygous or heterozygous | |
| 82 * if both heterozygous, whether they are in the same haplotype or not (if known) | |
| 83 | |
| 84 and one should be aware of the issues in handling variants resulting from such operations. | |
| 85 The original purpose of this tool is to allow for allelic comparisons between call sets. | |
| 86 | |
| 87 Standard option: | |
| 88 | |
| 89 Before decomposition | |
| 90 | |
| 91 .. code:: | |
| 92 | |
| 93 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT S1 S2 | |
| 94 1 3759889 . TA TAA,TAAA,T . PASS AF=0.342,0.173,0.037 GT:DP:PL 1/2:81:281,5,9,58,0,115,338,46,116,809 0/0:86:0,30,323,31,365,483,38,291,325,567 | |
| 95 | |
| 96 After decomposition | |
| 97 | |
| 98 .. code:: | |
| 99 | |
| 100 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT S1 S2 | |
| 101 1 3759889 . TA TAA . PASS OLD_MULTIALLELIC=1:3759889:TA/TAA/TAAA/T GT:PL 1/.:281,5,9 0/0:0,30,323 | |
| 102 1 3759889 . TA TAAA . . OLD_MULTIALLELIC=1:3759889:TA/TAA/TAAA/T GT:PL ./1:281,58,115 0/0:0,31,483 | |
| 103 1 3759889 . TA T . . OLD_MULTIALLELIC=1:3759889:TA/TAA/TAAA/T GT:PL ./.:281,338,809 0/0:0,38,567 | |
| 104 | |
| 105 | |
| 106 One might want to post process the partial genotypes like 1/. to the best guess genotype based on the PL values. | |
| 107 | |
| 108 | |
| 109 With **-s** option: | |
| 110 | |
| 111 Before decomposition | |
| 112 | |
| 113 .. code:: | |
| 114 | |
| 115 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT S1 S2 | |
| 116 1 3759889 . TA TAA,TAAA,T . PASS AF=0.342,0.173,0.037 GT:DP:PL 1/2:81:281,5,9,58,0,115,338,46,116,809 0/0:86:0,30,323,31,365,483,38,291,325,567 | |
| 117 | |
| 118 After decomposition | |
| 119 | |
| 120 .. code:: | |
| 121 | |
| 122 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT S1 S2 | |
| 123 1 3759889 . TA TAA . PASS AF=0.342;OLD_MULTIALLELIC=1:3759889:TA/TAA/TAAA/T GT:PL 1/.:281,5,9 0/0:0,30,323 | |
| 124 1 3759889 . TA TAAA . . AF=0.173;OLD_MULTIALLELIC=1:3759889:TA/TAA/TAAA/T GT:PL ./1:281,58,115 0/0:0,31,483 | |
| 125 1 3759889 . TA T . . AF=0.037;OLD_MULTIALLELIC=1:3759889:TA/TAA/TAAA/T GT:PL ./.:281,338,809 0/0:0,38,567 | |
| 126 | |
| 127 In general, you should recompute fields that involves alleles after decomposition. Information is generally lost after vertically decomposing a variant, so care should be taken in interpreting the resultant values. | |
| 128 | |
| 129 @CITATION@ | |
| 130 ]]> | |
| 131 </help> | |
| 132 <expand macro="citations"/> | |
| 133 </tool> |
