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1 <tool id="bcftools_norm" name="BCFtools norm" version="1.0.0">
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2 <description>Left-align and normalize indels, check if REF alleles match reference, change multiallelic format</description>
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25
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3 <requirements>
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4 <requirement type="package" version="1.3">bcftools</requirement>
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5 </requirements>
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6 <command>
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7 #if str( $input_file_index ) != "None":
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8 ln -s -f $input input_file.${input.ext} &&
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9 ln -s -f $input_file_index input_file.${input.ext}.tbi &&
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10 #end if
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11 #if str( $fasta_ref_cond.set_fasta_ref ) == "True":
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12 #if str( $fasta_ref_cond.fasta_ref_index ) != "None":
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13 ln -s -f $fasta_ref_cond.fasta_ref fasta_ref_file.${fasta_ref.ext}.fa &&
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14 ln -s -f $fasta_ref_cond.fasta_ref_index fasta_ref_file.${fasta_ref.ext}.fa.fai &&
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15 #end if
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16 #end if
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17 bcftools norm
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18 --output "${output_file}"
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19 --output-type "${output_type}"
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20 #if str( $regions_file ) != "None":
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21 --regions-file "${regions_file}"
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22 #end if
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23 #if str( $regions ) != "":
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24 --regions "${regions}"
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25 #end if
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26 #if str( $targets_file ) != "None":
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27 --targets-file "${targets_file}"
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28 #end if
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29 #if str( $targets ) != "":
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30 --targets "${targets}"
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31 #end if
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32 #if str( $check_ref_cond.set_check_ref ) == "True":
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33 #if str( $check_ref_cond.warn ) == "true":
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34 #if str( $check_ref_cond.check_ref ) == "None":
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35 --check-ref "w"
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36 #else
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37 --check-ref "w${check_ref_cond.check_ref}"
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38 #end if
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39 #else
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40 --check-ref "${check_ref_cond.check_ref}"
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41 #end if
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42 #end if
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43 #if str( $fasta_ref_cond.set_fasta_ref ) == "True":
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44 #if str( $fasta_ref_cond.fasta_ref_index ) != "None":
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45 --fasta-ref "fasta_ref_file.${fasta_ref.ext}.fa"
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46 #else
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47 --fasta-ref "${fasta_ref}"
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48 #end if
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49 #end if
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50 #if str( $multiallelics_cond.set_multiallelics ) == "True":
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51 #if str( $multiallelics_cond.minus_or_plus ) == "minus":
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52 #if str ( $multiallelics_cond.multiallelics ) != "None":
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53 --multiallelics "-${multiallelics_cond.multiallelics}"
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54 #else
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55 --multiallelics "-"
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56 #end if
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57 #else
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58 #if str ( $multiallelics_cond.multiallelics ) != "None":
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59 --multiallelics "+${multiallelics_cond.multiallelics}"
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60 #else
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61 --multiallelics "+"
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62 #end if
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63 #end if
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64 #end if
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65 #if str( $rm_dup ) != "None":
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66 --rm-dup "${rm_dup}"
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67 #end if
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68 ${do_not_normalize}
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69 ${strict_filter}
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70 #if str( $site_win ) != "":
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71 --site-win "${site_win}"
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72 #end if
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73 #if str( $input_file_index ) != "None":
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74 input_file.${input.ext}
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75 #else
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76 $input
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77 #end if
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78 </command>
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79 <inputs>
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80 <param name="input" type="data" format="vcf,bcf,bgzip" label="VCF or BCF input file" help="Input file can optionally be compressed and indexed using Bgzip and Tabix Galaxy tools. In this case, select bgzipped file here and index below."/>
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81 <param name="input_file_index" type="data" optional="true" label="Input file index" help="Tabix-generated index for input file. Run Tabix Galaxy tool on bgzipped input file to create index."/>
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82 <param name="output_type" type="select" label="Output data type" help="-O">
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83 <option value="v" selected="true">VCF</option>
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84 <option value="b">BCF</option>
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85 </param>
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86 <param name="regions_file" type="data" optional="true" label="Regions file" help="-R. Regions specified in a VCF, BED, or tab-delimited file with columns CHROM, POS, and, optionally, POS_TO."/>
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87 <param name="regions" type="text" size="80" optional="True" label="Regions list" help="-r. Comma-separated list of regions. Format: chr|chr:pos|chr:from-to|chr:from-[,...]">
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88 <sanitizer invalid_char="">
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89 <valid initial="string.digits"><add value="CHRchr-:,"/> </valid>
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90 </sanitizer>
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91 </param>
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92 <param name="targets_file" type="data" optional="true" label="Targets file" help="-T. Targets specified in a VCF, BED, or tab-delimited file with columns CHROM, POS, and, optionally, POS_TO."/>
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93 <param name="targets" type="text" size="80" optional="True" label="Targets list" help="-t. Comma-separated list of targets. Format: [^]chr|chr:pos|chr:from-to|chr:from-[,...]">
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94 <sanitizer invalid_char="">
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95 <valid initial="string.digits"><add value="CHRchr-:,^"/> </valid>
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96 </sanitizer>
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97 </param>
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98 <conditional name="fasta_ref_cond">
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99 <param name="set_fasta_ref" type="boolean" checked="False" label="Specify FASTA reference sequence" help="-f" />
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100 <when value="true">
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101 <param name="fasta_ref" type="data" label="FASTA reference file" help="Reference sequence. Using this option turns on left-alignment and normalization. Set corresponding index below." />
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102 <param name="fasta_ref_index" type="data" optional="True" label="FASTA reference index" help="Run Faidx (SAMtools) Galaxy tool on above reference file to create index. Errors can arise if this index is not specified." />
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103 </when>
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104 </conditional>
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105 <param name="do_not_normalize" type="boolean" checked="False" truevalue="--do-not-normalize" falsevalue="" label="Turn off indel normalization" help="-N. Indel normalization automatically occurs when FASTA reference is used. Use this option to disable this behavior." />
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106 <conditional name="check_ref_cond">
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107 <param name="set_check_ref" type="boolean" checked="False" label="Check REF" help="-c. Choose action when an incorrect or missing REF allele is encountered." />
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108 <when value="true">
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109 <param name="check_ref" type="select" optional="True" label="Action" help="Action when an incorrect or missing REF allele is encountered.">
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110 <option value="e">Exit program</option>
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111 <option value="x">Exclude incorrect/missing sites</option>
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112 <option value="s">Set or fix incorrect/missing sites (requires FASTA reference)</option>
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113 </param>
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114 <param name="warn" type="boolean" checked="False" label="Warn" help="Warn when an incorrect or missing REF allele is encountered." />
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115 </when>
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116 </conditional>
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117 <param name="rm_dup" type="select" optional="True" label="Remove duplicates" help="-d. For given variant type, if a record is present in multiple files, output only the first instance.">
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118 <option value="snps">SNPs</option>
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119 <option value="indels">Indels</option>
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120 <option value="both">Both (SNPs and indels)</option>
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121 <option value="any">Any</option>
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122 </param>
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123 <conditional name="multiallelics_cond">
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124 <param name="set_multiallelics" type="boolean" checked="False" label="Modify multiallelic sites" help="-m. Split multiallelic sites into biallelic records, or join biallelic sites into multiallelic records." />
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125 <when value="true">
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126 <param name="minus_or_plus" type="select" label="Split or join">
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127 <option value="minus" selected="true">Split multiallelic sites into biallelic records</option>
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128 <option value="plus">Join biallelic sites into multiallelic records</option>
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129 </param>
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130 <param name="multiallelics" type="select" optional="True" label="Sites to split/join" help="">
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131 <option value="snps">SNPs (only SNP records are split/joined)</option>
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132 <option value="indels">Indels (only indel records are split/joined)</option>
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133 <option value="both">Both (SNPs and indels are merged separately into two records)</option>
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134 <option value="any">Any (SNPs and indels are merged into a single record)</option>
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135 </param>
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136 </when>
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137 </conditional>
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138 <param name="strict_filter" type="boolean" checked="False" truevalue="--strict-filter" falsevalue="" label="Strict PASS filter" help="-s. When merging biallelics into multiallelics, merged site has value PASS only if all sites being merged have value PASS." />
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139 <param name="site_win" type="integer" optional="true" label="Position window" help="-w. Maximum distance between two records to consider when locally sorting variants which changed position during the realignment." />
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140 </inputs>
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141 <outputs>
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142 <data name="output_file" format="vcf" label="${tool.name} on ${on_string}">
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143 <change_format>
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144 <when input="output_type" value="b" format="bcf" />
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145 </change_format>
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146 </data>
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147 </outputs>
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148 <help>
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149 **About this tool**
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150
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151 **BCFtools norm**: Left-align and normalize indels, check if REF alleles match the reference, split multiallelic sites into multiple rows, recover multiallelics from multiple rows. Left-alignment and normalization will only be applied if the --fasta-ref option is supplied.
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152
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153 Please see https://samtools.github.io/bcftools/bcftools.html for more info on options.
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154 </help>
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155 </tool>
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156
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