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1 <tool id="snpSift_annotate" name="SnpSift Annotate" version="@WRAPPER_VERSION@.0">
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2 <description>SNPs from dbSnp</description>
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3 <!--
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4 You can change the amount of memory used, just change the -Xmx parameter (e.g. use -Xmx2G for 2Gb of memory)
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5 -->
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6 <macros>
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7 <import>snpSift_macros.xml</import>
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8 </macros>
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9 <expand macro="requirements" />
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10 <expand macro="stdio" />
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11 <expand macro="version_command" />
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12 <command><![CDATA[
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13 java -Xmx6G -jar \$SNPEFF_JAR_PATH/SnpSift.jar $annotate_cmd
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14 #if $annotate.id :
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15 -id
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16 #elif $annotate.info_ids.__str__.strip() != '' :
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17 -info "$annotate.info_ids"
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18 #end if
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19 -q $dbSnp $input > $output
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20 ]]>
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21 </command>
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22 <inputs>
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23 <param format="vcf" name="input" type="data" label="Variant input file in VCF format"/>
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24 <param format="vcf" name="dbSnp" type="data" label="VCF File with ID field annotated (e.g. dnSNP.vcf)"
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25 help="The ID field for a variant in input will be assigned from a matching variant in this file."/>
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26 <conditional name="annotate">
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27 <param name="id" type="boolean" truevalue="id" falsevalue="info" checked="True" label="Only annotate ID field (do not add INFO field)" help=""/>
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28 <when value="id"/>
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29 <when value="info">
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30 <param name="info_ids" type="text" value="" size="60" optional="true" label="Limit INFO annotation to these INFO IDs"
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31 help="list is a comma separated list of fields. When blank, all INFO fields are included">
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32 <validator type="regex" message="IDs separted by commas">^(([a-zA-Z][a-zA-Z0-9_-]*)(,[a-zA-Z][a-zA-Z0-9_-]*)*)?$</validator>
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33 </param>
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34 </when>
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35 </conditional>
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36 <param name="annotate_cmd" type="boolean" truevalue="annMem" falsevalue="annotate" checked="false" label="Allow unsorted VCF files">
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37 <help>
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38 This option will load the entire 'database' VCF file into memory (which may not be practical for large 'database' VCF files).
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39 Otherwise, both the database and the input VCF files should be sorted by position (Chromosome sort order can differ between files).
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40 </help>
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41 </param>
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42 </inputs>
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43 <outputs>
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44 <data format="vcf" name="output" />
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45 </outputs>
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46 <tests>
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47 <test>
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48 <param name="input" ftype="vcf" value="annotate_1.vcf"/>
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49 <param name="dbSnp" ftype="vcf" value="db_test_1.vcf"/>
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50 <param name="annotate_cmd" value="False"/>
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51 <param name="id" value="True"/>
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52 <output name="output">
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53 <assert_contents>
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54 <has_text text="rs76166080" />
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55 </assert_contents>
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56 </output>
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57 </test>
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58 </tests>
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59 <help><![CDATA[
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60
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61 This is typically used to annotate IDs from dbSnp.
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62
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63 Annotatating only the ID field from dbSnp137.vcf ::
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64
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65 Input VCF:
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66 CHROM POS ID REF ALT QUAL FILTER INFO
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67 22 16157571 . T G 0.0 FAIL NS=53
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68 22 16346045 . T C 0.0 FAIL NS=244
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69 22 16350245 . C A 0.0 FAIL NS=192
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70
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71 Annotated Output VCF:
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72 #CHROM POS ID REF ALT QUAL FILTER INFO
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73 22 16157571 . T G 0.0 FAIL NS=53
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74 22 16346045 rs56234788 T C 0.0 FAIL NS=244
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75 22 16350245 rs2905295 C A 0.0 FAIL NS=192
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76
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77
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78
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79 Annotatating both the ID and INFO fields from dbSnp137.vcf ::
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80
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81 Input VCF:
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82 #CHROM POS ID REF ALT QUAL FILTER INFO
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83 22 16157571 . T G 0.0 FAIL NS=53
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84 22 16346045 . T C 0.0 FAIL NS=244
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85 22 16350245 . C A 0.0 FAIL NS=192
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86
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87 Annotated Output VCF:
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88 #CHROM POS ID REF ALT QUAL FILTER INFO
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89 22 16157571 . T G 0.0 FAIL NS=53
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90 22 16346045 rs56234788 T C 0.0 FAIL NS=244;RSPOS=16346045;GMAF=0.162248628884826;dbSNPBuildID=129;SSR=0;SAO=0;VP=050100000000000100000100;WGT=0;VC=SNV;SLO;GNO
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91 22 16350245 rs2905295 C A 0.0 FAIL NS=192;RSPOS=16350245;GMAF=0.230804387568556;dbSNPBuildID=101;SSR=1;SAO=0;VP=050000000000000100000140;WGT=0;VC=SNV;GNO
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92
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93
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94 @EXTERNAL_DOCUMENTATION@
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95 http://snpeff.sourceforge.net/SnpSift.html#annotate
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96
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97 @CITATION_SECTION@
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98
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99
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100 ]]>
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101 </help>
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102 </tool>
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103
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