annotate freebayes.xml @ 6:3aacf7637e02 draft

planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
author iuc
date Wed, 08 Feb 2017 12:40:47 -0500
parents 0f44dd2e7fe3
children d0997bd93c49
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1 <tool id="freebayes" name="FreeBayes" version="@DEPENDENCY_VERSION@-2">
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2 <description>bayesian genetic variant detector</description>
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3 <macros>
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4 <import>macros.xml</import>
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5 </macros>
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6 <requirements>
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7 <requirement type="package" version="@DEPENDENCY_VERSION@">freebayes</requirement>
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8 <requirement type="package" version="0.1.19">samtools</requirement>
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9 <requirement type="package" version="4.1.3">gawk</requirement>
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10 <requirement type="package" version="20160622">parallel</requirement>
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11 </requirements>
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12 <stdio>
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13 <exit_code range="1:" />
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14 </stdio>
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15 <command><![CDATA[
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16 ##set up input files
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17
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18 #set $reference_fasta_filename = "localref.fa"
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19
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20 #if str( $reference_source.reference_source_selector ) == "history":
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21 ln -s -f '${reference_source.ref_file}' '${reference_fasta_filename}' &&
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22 samtools faidx '${reference_fasta_filename}' 2>&1 || echo "Error running samtools faidx for FreeBayes" >&2 &&
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23 #else:
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24 #set $reference_fasta_filename = str( $reference_source.ref_file.fields.path )
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25 #end if
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27 #for $bam_count, $input_bam in enumerate( $reference_source.input_bams ):
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28 ln -s -f '${input_bam}' 'b_${bam_count}.bam' &&
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29 ln -s -f '${input_bam.metadata.bam_index}' 'b_${bam_count}.bam.bai' &&
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30 #end for
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31
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32 ## Tabixize optional input_variant_vcf file (for --variant-input option)
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33 #if ( str( $options_type.options_type_selector ) == 'cline' or str( $options_type.options_type_selector ) == 'full' ) and str( $options_type.optional_inputs.optional_inputs_selector ) == 'set' and str( $options_type.optional_inputs.input_variant_type.input_variant_type_selector ) == "provide_vcf":
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34 ln -s -f '${options_type.optional_inputs.input_variant_type.input_variant_vcf}' 'input_variant_vcf.vcf.gz' &&
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35 ln -s -f '${Tabixized_input}' 'input_variant_vcf.vcf.gz.tbi' &&
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36 #end if
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37
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38 #for $bam_count, $input_bam in enumerate( $reference_source.input_bams ):
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39 samtools view -H b_${bam_count}.bam |
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40 grep "^@SQ" |
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41 cut -f 2- |
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42 awk '{ gsub("^SN:","",$1);
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43 gsub("^LN:","",$2);
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44 print $1"\t0\t"$2; }' >> regions_all.bed &&
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45 #end for
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47 sort -u regions_all.bed > regions_uniq.bed &&
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48 ## split into even small chunks, this has some disatvantages and will not be used for the moment
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49 ## bedtools makewindows -b regions_uniq.bed -w 10000000 -s 9990000 > regions.bed &&
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50
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51 mkdir vcf_output &&
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52 mkdir failed_alleles &&
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53 mkdir trace &&
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55 ## Finished setting up inputs
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56
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57 for i in `cat regions_uniq.bed | awk '{print $1":"$2".."$3}'`;
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58 do
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59
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60 echo "
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62 ## COMMAND LINE STARTS HERE
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63
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64 freebayes
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65
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66 --region '\$i'
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67
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68 #for $bam_count, $input_bam in enumerate( $reference_source.input_bams ):
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69 --bam 'b_${bam_count}.bam'
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70 #end for
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71 --fasta-reference '${reference_fasta_filename}'
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72
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73 ## Outputs
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74 --vcf './vcf_output/part_\$i.vcf'
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75
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76 #if str( $target_limit_type.target_limit_type_selector ) == "limit_by_target_file":
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77 --targets '${target_limit_type.input_target_bed}'
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78 #elif str( $target_limit_type.target_limit_type_selector ) == "limit_by_region":
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79 --region '${target_limit_type.region_chromosome}:${target_limit_type.region_start}..${target_limit_type.region_end}'
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80 #end if
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81
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82 ##advanced options
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83 #if str( $options_type.options_type_selector ) == "simple":
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84 ##do nothing as command like build up to this point is sufficinet for simple diploid calling
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85
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86 #elif str( $options_type.options_type_selector ) == "simple_w_filters":
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87 --standard-filters
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88 --min-coverage '${options_type.min_coverage}'
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89 #elif str( $options_type.options_type_selector ) == "naive":
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90 --haplotype-length 0
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91 --min-alternate-count 1
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92 --min-alternate-fraction 0
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93 --pooled-continuous
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94 --report-monomorphic
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95 #elif str( $options_type.options_type_selector ) == "naive_w_filters":
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96 --haplotype-length 0
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97 --min-alternate-count 1
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98 --min-alternate-fraction 0
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99 --pooled-continuous
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100 --report-monomorphic
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101 --standard-filters
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102 --min-coverage '${options_type.min_coverage}'
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103
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104 ## Command line direct text entry is not allowed at this time for security reasons
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105 #elif str( $options_type.options_type_selector ) == "full":
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106 #if str( $options_type.optional_inputs.optional_inputs_selector ) == 'set':
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107 ${options_type.optional_inputs.report_monomorphic}
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108
6
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109 #if $options_type.optional_inputs.output_trace_option:
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110 --trace ./trace/part_'\$i'.txt
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111 #end if
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112 #if $options_type.optional_inputs.output_failed_alleles_option:
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113 --failed-alleles ./failed_alleles/part_'\$i'.bed
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114 #end if
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115 #if $options_type.optional_inputs.samples:
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116 --samples '${options_type.optional_inputs.samples}'
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117 #end if
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118 #if $options_type.optional_inputs.populations:
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119 --populations '${options_type.optional_inputs.populations}'
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120 #end if
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121 #if $options_type.optional_inputs.A:
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122 --cnv-map '${options_type.optional_inputs.A}'
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123 #end if
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124 #if str( $options_type.optional_inputs.input_variant_type.input_variant_type_selector ) == "provide_vcf":
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125 --variant-input 'input_variant_vcf.vcf.gz' ## input_variant_vcf.vcf.gz is symlinked to a galaxy-generated dataset in "Tabixize optional input_variant_vcf file" section of the command line above
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126 ${options_type.optional_inputs.input_variant_type.only_use_input_alleles}
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127 #end if
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128 #if $options_type.optional_inputs.haplotype_basis_alleles:
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129 --haplotype-basis-alleles '${options_type.optional_inputs.haplotype_basis_alleles}'
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130 #end if
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131 #if $options_type.optional_inputs.observation_bias:
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132 --observation-bias '${options_type.optional_inputs.observation_bias}'
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133 #end if
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134 #if $options_type.optional_inputs.contamination_estimates:
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135 --contamination-estimates '${options_type.optional_inputs.contamination_estimates}'
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136 #end if
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137 #end if
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138
6
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139 ## REPORTING
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140 #if str( $options_type.reporting.reporting_selector ) == "set":
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141 --pvar ${options_type.reporting.pvar}
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142 #end if
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143 ## POPULATION MODEL
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144 #if str( $options_type.population_model.population_model_selector ) == "set":
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145 --theta '${options_type.population_model.T}'
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146 --ploidy '${options_type.population_model.P}'
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147 ${options_type.population_model.J}
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148 ${options_type.population_model.K}
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149 #end if
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150
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151 ## REFERENCE ALLELE
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152 #if str( $options_type.reference_allele.reference_allele_selector ) == "set":
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153 ${options_type.reference_allele.Z}
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154 --reference-quality '${options_type.reference_allele.reference_quality}'
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155 #end if
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156
6
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157 ## ALLELE SCOPE
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158 #if str( $options_type.allele_scope.allele_scope_selector ) == "set":
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159 ${options_type.allele_scope.I}
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160 ${options_type.allele_scope.i}
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161 ${options_type.allele_scope.X}
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162 ${options_type.allele_scope.u}
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163 ${options_type.allele_scope.no_partial_observations}
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164
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165 -n '${options_type.allele_scope.n}'
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166
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167 --haplotype-length '${options_type.allele_scope.haplotype_length}'
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168 --min-repeat-size '${options_type.allele_scope.min_repeat_length}'
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169 --min-repeat-entropy '${options_type.allele_scope.min_repeat_entropy}'
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170 #end if
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171
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172 ## REALIGNMENT
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173 ${options_type.O}
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174
6
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175 ##INPUT FILTERS
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176 #if str( $options_type.input_filters.input_filters_selector ) == "set":
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177 ${options_type.input_filters.use_duplicate_reads}
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178 -m '${options_type.input_filters.m}'
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179 -q '${options_type.input_filters.q}'
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180 -R '${options_type.input_filters.R}'
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181 -Y '${options_type.input_filters.Y}'
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182 -e '${options_type.input_filters.e}'
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183 -F '${options_type.input_filters.F}'
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184 -C '${options_type.input_filters.C}'
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185 -G '${options_type.input_filters.G}'
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186
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187 #if str( $options_type.input_filters.mismatch_filters.mismatch_filters_selector ) == "set":
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188 -Q '${options_type.input_filters.mismatch_filters.Q}'
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189 -U '${options_type.input_filters.mismatch_filters.U}'
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190 -z '${options_type.input_filters.mismatch_filters.z}'
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191
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192 --read-snp-limit '${options_type.input_filters.mismatch_filters.read_snp_limit}'
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193 #end if
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194
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195 --min-coverage '${options_type.input_filters.min_coverage}'
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196 --min-alternate-qsum "${options_type.input_filters.min_alternate_qsum}"
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197 #end if
6
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198
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199 ## POPULATION AND MAPPABILITY PRIORS
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200 #if str( $options_type.population_mappability_priors.population_mappability_priors_selector ) == "set":
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201 ${options_type.population_mappability_priors.k}
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202 ${options_type.population_mappability_priors.w}
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203 ${options_type.population_mappability_priors.V}
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204 ${options_type.population_mappability_priors.a}
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205 #end if
6
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206
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207 ## GENOTYPE LIKELIHOODS
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208 #if str( $options_type.genotype_likelihoods.genotype_likelihoods_selector ) == "set":
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209 ${$options_type.genotype_likelihoods.experimental_gls}
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210
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211 --base-quality-cap '${$options_type.genotype_likelihoods.base_quality_cap}'
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212 --prob-contamination '${$options_type.genotype_likelihoods.prob_contamination}'
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213 #end if
6
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214
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215 ## ALGORITHMIC FEATURES
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216 #if str( $options_type.algorithmic_features.algorithmic_features_selector ) == "set":
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217 -B '${options_type.algorithmic_features.B}'
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218 -W '${options_type.algorithmic_features.W}'
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219 -D '${options_type.algorithmic_features.D}'
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220
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221 #if str( $options_type.algorithmic_features.genotype_variant_threshold.genotype_variant_threshold_selector ) == "set":
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222 -S '${options_type.algorithmic_features.genotype_variant_threshold.S}'
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223 #end if
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224
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225 ${options_type.algorithmic_features.N}
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226 ${options_type.algorithmic_features.j}
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227 ${options_type.algorithmic_features.H}
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228 ${options_type.algorithmic_features.genotype_qualities}
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229 ${options_type.algorithmic_features.report_genotype_likelihood_max}
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230
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231 --genotyping-max-banddepth '${options_type.algorithmic_features.genotyping_max_banddepth}'
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232 #end if
3
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233 #end if
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234
6
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235 ";
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236 done > freebayes_commands.sh &&
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237
6
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238 cat freebayes_commands.sh |
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239 parallel --no-notice -j \${GALAXY_SLOTS:-1} &&
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240
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241 ## make VCF header
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242 grep "^#" "./vcf_output/part_\$i.vcf" > header.txt &&
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243
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244 for i in `cat regions_uniq.bed | awk '{print $1":"$2".."$3}'`;
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245 do
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246 ## if this fails then it bails out the script
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247 cat "./vcf_output/part_\$i.vcf" | grep -v "^#" || true
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248 ;
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249 done | sort -k1,1 -k2,2n -k5,5 -u | cat header.txt - > '${output_vcf}'
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250
4
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251 #if str( $options_type.options_type_selector ) == "full":
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252 #if str( $options_type.optional_inputs.optional_inputs_selector ) == 'set':
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253 #if $options_type.optional_inputs.output_failed_alleles_option:
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254 &&
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255 for i in `cat regions.bed | awk '{print $1":"$2".."$3}'`;
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256 do
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257 cat "./failed_alleles/part_\$i.bed"
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258 ;
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259 done > '${output_failed_alleles_bed}'
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260 #end if
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261
4
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262 #if $options_type.optional_inputs.output_trace_option:
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263 &&
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264 for i in `cat regions.bed | awk '{print $1":"$2".."$3}'`;
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265 do
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266 cat './trace/part_\$i.txt'
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267 ;
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268 done > '${output_trace}'
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269 #end if
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270 #end if
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271 #end if
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272 ]]></command>
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273
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274 <inputs>
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275 <conditional name="reference_source">
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276 <param name="reference_source_selector" type="select" label="Choose the source for the reference genome">
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277 <option value="cached">Locally cached</option>
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278 <option value="history">History</option>
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279 </param>
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280 <when value="cached">
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281 <param name="input_bams" type="data" format="bam" multiple="True" label="BAM file">
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282 <validator type="unspecified_build" />
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283 <validator type="dataset_metadata_in_data_table" table_name="fasta_indexes" metadata_name="dbkey" metadata_column="1" message="Sequences are not currently available for the specified build." />
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284 </param>
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285 <param name="ref_file" type="select" label="Using reference genome">
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286 <options from_data_table="fasta_indexes"></options>
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287 <validator type="no_options" message="A built-in reference genome is not available for the build associated with the selected input file"/>
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288 </param>
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289 </when>
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290 <when value="history"> <!-- FIX ME!!!! -->
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291 <param name="input_bams" type="data" format="bam" multiple="True" label="BAM file" />
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292 <param name="ref_file" type="data" format="fasta" label="Use the following dataset as the reference sequence"
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293 help="You can upload a FASTA sequence to the history and use it as reference" />
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294 </when>
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295 </conditional>
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296 <conditional name="target_limit_type">
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297 <param name="target_limit_type_selector" type="select" label="Limit variant calling to a set of regions?" help="Sets --targets or --region options">
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298 <option value="do_not_limit" selected="True">Do not limit</option>
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299 <option value="limit_by_target_file">Limit by target file</option>
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300 <option value="limit_by_region">Limit to region</option>
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301 </param>
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302 <when value="do_not_limit" /><!-- Do nothing here -->
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303 <when value="limit_by_target_file">
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304 <param name="input_target_bed" type="data" format="bed" label="Limit analysis to regions in a file (BED-format)." argument="--targets"/>
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305 </when>
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306 <when value="limit_by_region">
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307 <param name="region_chromosome" type="text" label="Region Chromosome" value="" argument="--region"/> <!--only once? -->
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308 <param name="region_start" type="integer" label="Region Start" value="" />
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309 <param name="region_end" type="integer" label="Region End" value="" />
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310 </when>
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311 </conditional>
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312 <conditional name="options_type">
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313 <param name="options_type_selector" type="select" label="Choose parameter selection level"
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314 help="Select how much control over the freebayes run you need" >
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315 <option value="simple" selected="True">1. Simple diploid calling</option>
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316 <option value="simple_w_filters">2. Simple diploid calling with filtering and coverage</option>
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317 <option value="naive">3. Frequency-based pooled calling</option>
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318 <option value="naive_w_filters">4. Frequency-based pooled calling with filtering and coverage</option>
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319 <option value="full">5. Full list of options</option>
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320 </param>
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321 <when value="full">
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322 <conditional name="optional_inputs">
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323 <param name="optional_inputs_selector" type="select" label="Additional inputs"
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324 help="Sets --samples, --populations, --cnv-map, --trace, --failed-alleles, --varinat-input, --only-use-input-alleles, --haplotype-basis-alleles,
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325 --report-all-haplotype-alleles, --report-monomorphic options, --observation-bias, and --contamination-estimates">
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326 <option value="do_not_set" selected="true">Do not provide additional inputs</option>
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327 <option value="set">Provide additional inputs</option>
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328 </param>
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329 <when value="set">
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330 <param name="output_failed_alleles_option" type="boolean" truevalue="--failed-alleles" falsevalue="" checked="False"
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331 label="Write out failed alleles file" argument="--failed-alleles" />
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332 <param name="output_trace_option" type="boolean" truevalue="--trace" falsevalue="" checked="False"
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333 label="Write out algorithm trace file" argument="--trace"/>
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334 <param name="samples" type="data" format="txt" label="Limit analysis to samples listed (one per line) in the FILE" optional="True"
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335 help="default=By default FreeBayes will analyze all samples in its input BAM files" argument="--samples"/>
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336 <param name="populations" type="data" format="txt" label="Populations File" optional="True"
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337 help="Each line of FILE should list a sample and a population which it is part of. The population-based bayesian inference model will
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338 then be partitioned on the basis of the populations. [default=False]"
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339 argument="--populations" />
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340 <param name="A" type="data" format="bed" label="Read a copy number map from the BED file FILE" optional="True"
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341 help="default=copy number is set to as specified by --ploidy. Read a copy number map from the BED file FILE, which has the format:
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342 reference sequence, start, end, sample name, copy number ... for each region in each sample which does not have the default copy number as set by --ploidy."
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343 argument="--cnv-map" />
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344 <conditional name="input_variant_type">
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345 <param name="input_variant_type_selector" type="select" label="Provide variants file">
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346 <option value="do_not_provide" selected="True">Do not provide</option>
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347 <option value="provide_vcf">Provide VCF file</option>
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348 </param>
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349 <when value="do_not_provide" /><!-- Do nothing here -->
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350 <when value="provide_vcf">
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351 <param name="input_variant_vcf" type="data" format="vcf_bgzip" label="Use variants reported in VCF file as input to the algorithm" argument="--variant-input">
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352 <conversion name="Tabixized_input" type="tabix" />
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353 </param>
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354 <param name="only_use_input_alleles" type="boolean" truevalue="--only-use-input-alleles" falsevalue="" checked="False"
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355 label="Only provide variant calls and genotype likelihoods for sites in VCF" argument="--only-use-input-alleles" />
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356 </when>
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357 </conditional>
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358 <param name="haplotype_basis_alleles" type="data" format="vcf" label="Only use variant alleles provided in this input VCF for the construction of complex or haplotype alleles" optional="True"
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359 argument="--haplotype-basis-alleles" />
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360 <param name="report_monomorphic" type="boolean" truevalue="--report-monomorphic" falsevalue="" checked="False"
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361 label="Report even loci which appear to be monomorphic, and report all considered alleles, even those which are not in called genotypes."
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362 argument="--report-monomorphic" />
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363 <param name="observation_bias" optional="True" type="data" format="tabular" label="Load read length-dependent allele observation biases from"
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364 help="The format is [length] [alignment efficiency relative to reference] where the efficiency is 1 if there is no relative observation bias"
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365 argument="--observation-bias" />
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366 <param name="contamination_estimates" optional="True" type="data" format="tabular" label="Upload per-sample estimates of contamination from"
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367 help="The format should be: sample p(read=R|genotype=AR) p(read=A|genotype=AA) Sample '*' can be used to set default contamination estimates."
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368 argument="--contamination-estimates" />
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369 </when>
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370 <when value="do_not_set" /><!-- do nothing -->
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371 </conditional>
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372
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373 <!-- reporting -->
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374 <conditional name="reporting">
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375 <param name="reporting_selector" type="select" label="Reporting options" help="Sets -P --pvar option">
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376 <option value="do_not_set" selected="True">Use defaults</option>
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377 <option value="set">Set reporting options</option>
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378 </param>
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379 <when value="set">
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380 <param name="pvar" type="float" value="0.0" label="Report sites if the probability that there is a polymorphism at the site is greater than"
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381 help="Note that post-filtering is generally recommended over the use of this parameter. [default=0.0]"
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382 argument="--pvar" />
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383 </when>
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384 <when value="do_not_set" /><!-- do nothing -->
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385 </conditional>
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386
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387 <!-- population model -->
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388 <conditional name="population_model">
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389 <param name="population_model_selector" type="select" label="Population model options"
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390 help="Sets --theta, --ploidy, --pooled-discrete, and --pooled-continuous options " >
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391 <option value="do_not_set" selected="true">Use defaults</option>
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392 <option value="set">Set population model options</option>
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393 </param>
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394 <when value="set">
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395 <param name="T" type="float" value="0.001" label="The expected mutation rate or pairwise nucleotide diversity among the population under analysis"
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396 help="This serves as the single parameter to the Ewens Sampling Formula prior model. [default = 0.001]" argument='--theta'/>
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397 <param name="P" type="integer" value="2" label="Set ploidy for the analysis"
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398 help="default=2" argument='--ploidy' />
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399 <param name="J" type="boolean" truevalue="-J" falsevalue="" checked="False" label="Assume that samples result from pooled sequencing"
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400 help="Model pooled samples using discrete genotypes across pools. When using this flag, set --ploidy to the number of alleles in each sample or use the --cnv-map to define per-sample ploidy. [default=False]"
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401 argument="--pooled-discrete"/>
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402 <param name="K" type="boolean" truevalue="-K" falsevalue="" checked="False" label="Output all alleles which pass input filters, regardles of genotyping outcome or model"
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403 help="default=False." argument="--poled-continuous" />
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404 </when>
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405 <when value="do_not_set" /><!-- do nothing -->
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406 </conditional>
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407
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408 <!-- reference allele -->
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409 <conditional name="reference_allele">
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410 <param name="reference_allele_selector" type="select" label="Reference allele options"
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411 help="Sets --use-reference-allele and --reference-quality options.">
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412 <option value="do_not_set" selected="true">Use defaults</option>
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413 <option value="set">Set reference allele options</option>
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414 </param>
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415 <when value="set">
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416 <param name="Z" type="boolean" truevalue="-Z" falsevalue="" checked="False" label="Include the reference allele in the analysis as if it is another sample from the same population"
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417 help="default=False" argument="--use-reference-allele" />
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418 <param name="reference_quality" type="text" value="100,60" label="Assign mapping quality of MQ (100) to the reference allele at each site and base quality of BQ (60)"
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419 help="default=100,60" argument="--reference-quality" />
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420 </when>
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421 <when value="do_not_set" /><!-- do nothing -->
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422 </conditional>
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423
4
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424 <!-- allelic scope -->
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425 <conditional name="allele_scope">
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426 <param name="allele_scope_selector" type="select" label="Allelic scope options"
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427 help="Sets -I, i, -X, -u, -n, --haplotype-length, --min-repeat-size, --min-repeat-entropy, and --no-partial-observations options.">
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428 <option value="do_not_set" selected="true">Use defaults</option>
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429 <option value="set">Set alleic scope options</option>
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430 </param>
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431 <when value="set">
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432 <param name="I" type="boolean" truevalue="-I" falsevalue="" checked="False" label="Ignore SNP alleles"
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433 help="default=False" argument="--no-snps" />
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434 <param name="i" type="boolean" truevalue="-i" falsevalue="" checked="False" label="Ignore indels alleles"
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parents: 5
diff changeset
435 help="default=False" argument="--no-indels" />
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parents: 5
diff changeset
436 <param name="X" type="boolean" truevalue="-X" falsevalue="" checked="False" label="Ignore multi-nucleotide polymorphisms, MNPs"
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parents: 5
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437 help="default=False" argument="--no-mnps" />
4
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438 <param name="u" type="boolean" truevalue="-u" falsevalue="" checked="False" label="Ignore complex events (composites of other classes)."
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439 help="default=False" argument="--no-complex" />
4
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440 <param name="n" type="integer" value="0" label="How many best SNP alleles to evaluate"
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441 help="Alleles are ranked by the sum of supporting quality scores. Set to 0 to evaluate all. [default=0 (all)]"
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442 argument="--use-best-n-alleles" />
4
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443 <param name="haplotype_length" type="integer" value="3" label="Allow haplotype calls with contiguous embedded matches of up to (nucleotides)"
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444 help="-E --max-complex-gap --haplotype-length; default=3." />
4
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445 <param name="min_repeat_length" type="integer" value="5" label="When assembling observations across repeats, require the total repeat length at least this many bp"
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446 help="default=5." argument="--min-repeat-size" />
4
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diff changeset
447 <param name="min_repeat_entropy" type="integer" value="0" label="To detect interrupted repeats, build across sequence until it has entropy > (bits per bp)"
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448 help="default=0 (off)." argument="--min-repeat-entropy" />
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449 <param name="no_partial_observations" type="boolean" truevalue="--no-partial-observations" falsevalue="" checked="False"
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parents: 5
diff changeset
450 label="Exclude observations which do not fully span the dynamically-determined detection window"
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parents: 5
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451 help="default=use all observations, dividing partial support across matching haplotypes when generating haplotypes."
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parents: 5
diff changeset
452 argument="--no-partial-observations" />
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453 </when>
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parents: 5
diff changeset
454 <when value="do_not_set" /><!-- do nothing -->
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455 </conditional>
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456
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diff changeset
457 <!-- indel realignment -->
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parents: 5
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458 <param name="O" type="boolean" truevalue="-O" falsevalue="" checked="False" label="Turn off left-alignment of indels"
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parents: 5
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459 help="default=False (do left align)." argument="--dont-left-align-indels" />
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parents: 5
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460
4
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parents: 3
diff changeset
461 <!-- input filters -->
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parents: 3
diff changeset
462 <conditional name="input_filters">
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463 <param name="input_filters_selector" type="select" label="Input filters"
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parents: 5
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464 help="Sets -4, -m, -q, -R, -Y, -Q, -U, -z, -&#36;, -e, -0, -F, -C, -3, -G, and -&#33; options.">
4
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465 <option value="do_not_set" selected="true">No input filters (default)</option>
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466 <option value="set">Set input filters</option>
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diff changeset
467 </param>
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parents: 5
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468 <when value="set">
4
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parents: 3
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469 <param name="use_duplicate_reads" type="boolean" truevalue="--use-duplicate-reads" falsevalue="" checked="False"
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parents: 5
diff changeset
470 label="Include duplicate-marked alignments in the analysis."
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
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471 help="default=False (exclude duplicates marked as such in alignments)." argument="--use-duplicate-reads" />
4
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472 <param name="m" type="integer" value="1" label="Exclude alignments from analysis if they have a mapping quality less than"
6
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parents: 5
diff changeset
473 help="default=1" argument="--min-mapping-quality" />
4
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parents: 3
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474 <param name="q" type="integer" value="0" label="Exclude alleles from analysis if their supporting base quality less than"
6
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parents: 5
diff changeset
475 help="default=0" argument="--min-base-quality" />
4
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diff changeset
476 <param name="R" type="integer" value="0" label="Consider any allele in which the sum of qualities of supporting observations is at least"
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parents: 5
diff changeset
477 help="default=0" argument="--min-supporting-allele-qsum" />
4
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parents: 3
diff changeset
478 <param name="Y" type="integer" value="0" label="Consider any allele in which and the sum of mapping qualities of supporting reads is at least"
6
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parents: 5
diff changeset
479 help="default=0" argument="--min-supporting-mapping-qsum" />
4
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parents: 3
diff changeset
480 <conditional name="mismatch_filters">
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parents: 3
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481 <param name="mismatch_filters_selector" type="select" label="Mismatch filters"
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parents: 5
diff changeset
482 help="Sets -Q, -U, -z, and &#36; options">
4
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diff changeset
483 <option value="do_not_set" selected="true">No mismatch filters (default)</option>
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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484 <option value="set">Set mismatch filters</option>
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parents: 3
diff changeset
485 </param>
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486 <when value="set">
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parents: 5
diff changeset
487 <param name="Q" type="integer" value="10"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
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488 label="Count mismatches toward -U (option below) if the base quality of the mismatch is >="
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
489 help="default=10" argument="--mismatch-base-quality-threshold" />
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
490 <param name="U" type="integer" value="1000" optional="True"
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parents: 5
diff changeset
491 label="Exclude reads with more than N mismatches where each mismatch has base quality >= Q (option above)"
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492 help="default=~unbound" argument="--read-mismatch-limit" />
4
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493 <param name="z" type="float" value="1.0" min="0.0" max="1.0"
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parents: 5
diff changeset
494 label="Exclude reads with more than N [0,1] fraction of mismatches where each mismatch has base quality >= Q (second option above)"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
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495 help="default=1.0" argument="--read-max-mismatch-fraction" />
4
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496 <param name="read_snp_limit" type="integer"
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diff changeset
497 value="1000" label="Exclude reads with more than N base mismatches, ignoring gaps with quality >= Q (third option abobe)"
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498 argument="--read-snp-limit" />
4
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499 </when>
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parents: 5
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500 <when value="do_not_set" /><!-- do nothing -->
4
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diff changeset
501 </conditional>
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502 <param name="e" type="integer" value="1000" label="Exclude reads with more than this number of separate gaps"
6
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parents: 5
diff changeset
503 help="default=~unbounded" argument="--read-snp-limit" />
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parents: 5
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504 <param name="standard_filters" type="boolean" truevalue="-0" falsevalue="" checked="False"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
505 label="Use stringent input base and mapping quality filters"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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diff changeset
506 help="default=False. Equivalent to -m 30 -q 20 -R 0 -S 0" argument="--standard-filters"/>
4
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507 <param name="F" type="float" value="0.2"
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parents: 5
diff changeset
508 label="Require at least this fraction of observations supporting an alternate allele within a single individual in the in order to evaluate the position"
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parents: 5
diff changeset
509 help="default=0.2" argument="--min-alternate-fraction" />
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parents: 3
diff changeset
510 <param name="C" type="integer" value="2"
6
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parents: 5
diff changeset
511 label="Require at least this count of observations supporting an alternate allele within a single individual in order to evaluate the position"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
512 help="default=2" argument="--min-alternate-count" />
4
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parents: 3
diff changeset
513 <param name="min_alternate_qsum" type="integer" value="0"
6
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parents: 5
diff changeset
514 label="Require at least this sum of quality of observations supporting an alternate allele within a single individual in order to evaluate the position"
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parents: 5
diff changeset
515 help="default=0" argument="--min-alternate-qsum" />
4
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parents: 3
diff changeset
516 <param name="G" type="integer" value="1"
6
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iuc
parents: 5
diff changeset
517 label="Require at least this count of observations supporting an alternate allele within the total population in order to use the allele in analysis"
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parents: 5
diff changeset
518 help="default=1" argument="--min-alternate-total" />
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parents: 5
diff changeset
519 <expand macro="par_min_cov" />
4
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parents: 3
diff changeset
520 </when>
6
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iuc
parents: 5
diff changeset
521 <when value="do_not_set" /><!-- do nothing -->
4
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parents: 3
diff changeset
522 </conditional>
6
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parents: 5
diff changeset
523
4
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parents: 3
diff changeset
524 <!-- population and mappability priors -->
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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parents: 3
diff changeset
525 <conditional name="population_mappability_priors">
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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parents: 3
diff changeset
526 <param name="population_mappability_priors_selector" type="select" label="Population and mappability priors"
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parents: 3
diff changeset
527 help="Sets -k, -w, -V, and -a options.">
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parents: 3
diff changeset
528 <option value="do_not_set" selected="true">Use defaults</option>
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parents: 3
diff changeset
529 <option value="set">Set population and mappability priors</option>
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parents: 3
diff changeset
530 </param>
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parents: 3
diff changeset
531 <when value="set">
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parents: 3
diff changeset
532 <param name="k" type="boolean" truevalue="-k" falsevalue="" checked="False" label="No population priors"
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parents: 5
diff changeset
533 help="default=False. Equivalent to --pooled-discrete --hwe-priors-off and removal of Ewens Sampling Formula component of priors."
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parents: 5
diff changeset
534 argument="--no-population-priors" />
4
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parents: 3
diff changeset
535 <param name="w" type="boolean" truevalue="-w" falsevalue="" checked="False"
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parents: 5
diff changeset
536 label="Disable estimation of the probability of the combination arising under HWE given the allele frequency as estimated by observation frequency"
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parents: 5
diff changeset
537 help="default=False" argument="--hwe-priors-off" />
4
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parents: 3
diff changeset
538 <param name="V" type="boolean" truevalue="-V" falsevalue="" checked="False" label="Disable incorporation of prior expectations about observations"
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parents: 5
diff changeset
539 help="default=False. Uses read placement probability, strand balance probability, and read position (5&#39;'-3&#39;') probability."
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parents: 5
diff changeset
540 argument="--binomial-obs-priors-off" />
4
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parents: 3
diff changeset
541 <param name="a" type="boolean" truevalue="-a" falsevalue="" checked="False"
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parents: 5
diff changeset
542 label="Disable use of aggregate probability of observation balance between alleles as a component of the priors"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
543 help="default=False"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
544 argument="--allele-balance-priors-off" />
4
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parents: 3
diff changeset
545 </when>
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iuc
parents: 5
diff changeset
546 <when value="do_not_set" /><!-- do nothing -->
4
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parents: 3
diff changeset
547 </conditional>
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parents: 5
diff changeset
548
4
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parents: 3
diff changeset
549 <!-- genotype likelihoods -->
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parents: 3
diff changeset
550 <conditional name="genotype_likelihoods">
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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parents: 3
diff changeset
551 <param name="genotype_likelihoods_selector" type="select" label="Genotype likelihood options"
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parents: 5
diff changeset
552 help="Sets --base-quality-cap, --experimental-gls, and --prob-contamination options.">
4
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parents: 3
diff changeset
553 <option value="do_not_set" selected="true">Use defaults</option>
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parents: 3
diff changeset
554 <option value="set">Set genotype likelihood options</option>
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parents: 3
diff changeset
555 </param>
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parents: 3
diff changeset
556 <when value="set">
6
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iuc
parents: 5
diff changeset
557 <param name="base_quality_cap" type="integer" value="0" label="Limit estimated observation quality by capping base quality at"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
iuc
parents: 5
diff changeset
558 argument="--base-quality-cap" />
4
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parents: 3
diff changeset
559 <param name="experimental_gls" type="boolean" truevalue="--experimental-gls" falsevalue="" checked="False"
6
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iuc
parents: 5
diff changeset
560 label="Generate genotype likelihoods using 'effective base depth' metric qual = 1-BaseQual * 1-MapQual"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
iuc
parents: 5
diff changeset
561 help="Incorporate partial observations. This is the default when contamination estimates are provided. Optimized for diploid samples."
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
iuc
parents: 5
diff changeset
562 argument="--experimental-gls" />
4
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parents: 3
diff changeset
563 <param name="prob_contamination" type="float" value="10e-9" label="An estimate of contamination to use for all samples"
6
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parents: 5
diff changeset
564 help="default=10e-9." argument="--prob-contamination" />
4
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parents: 3
diff changeset
565 </when>
6
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iuc
parents: 5
diff changeset
566 <when value="do_not_set" /><!-- do nothing -->
4
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parents: 3
diff changeset
567 </conditional>
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iuc
parents: 5
diff changeset
568
4
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parents: 3
diff changeset
569 <!-- algorithmic features -->
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parents: 3
diff changeset
570 <conditional name="algorithmic_features">
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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parents: 3
diff changeset
571 <param name="algorithmic_features_selector" type="select" label="Algorithmic features"
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iuc
parents: 5
diff changeset
572 help="Sets --report-genotypes-likelihood-max, -B, --genotyping-max-banddepth, -W, -N, S, -j, -H, -D, -= options">
4
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parents: 3
diff changeset
573 <option value="do_not_set" selected="true">Use defaults</option>
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parents: 3
diff changeset
574 <option value="set">Set algorithmic features</option>
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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parents: 3
diff changeset
575 </param>
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parents: 3
diff changeset
576 <when value="set">
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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parents: 3
diff changeset
577 <param name="report_genotype_likelihood_max" type="boolean" truevalue="--report-genotype-likelihood-max" falsevalue="" checked="False"
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parents: 5
diff changeset
578 label="Report genotypes using the maximum-likelihood estimate provided from genotype likelihoods."
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
579 help="default=False" argument="--report-genotype-likelihood-max" />
4
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diff changeset
580 <param name="B" type="integer" value="1000" label="Iterate no more than N times during genotyping step"
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parents: 5
diff changeset
581 help="default=1000." argument="--genotyping-max-iterations" />
4
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parents: 3
diff changeset
582 <param name="genotyping_max_banddepth" type="integer" value="6" label="Integrate no deeper than the Nth best genotype by likelihood when genotyping"
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parents: 5
diff changeset
583 help="default=6" argument="--genotyping-max-banddepth" />
4
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parents: 3
diff changeset
584 <param name="W" type="text" value="1,3"
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iuc
parents: 5
diff changeset
585 label="Integrate all genotype combinations in our posterior space which include no more than N (1) samples with their Mth (3) best data likelihood"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
586 help="default=1,3" argument="--posterior-integration-limits" />
4
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parents: 3
diff changeset
587 <param name="N" type="boolean" truevalue="--exclude-unobserved-genotypes" falsevalue="" checked="False"
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iuc
parents: 5
diff changeset
588 label="Skip sample genotypings for which the sample has no supporting reads"
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
iuc
parents: 5
diff changeset
589 help="default=False" argument="--exclude-unobserved-genotypes" />
4
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parents: 3
diff changeset
590 <conditional name="genotype_variant_threshold">
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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parents: 3
diff changeset
591 <param name="genotype_variant_threshold_selector" type="select"
6
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iuc
parents: 5
diff changeset
592 label="Limit posterior integration" argument="--genotype-variant-threshold">
4
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parents: 3
diff changeset
593 <option value="do_not_set" selected="true">Do not limit posterior integration</option>
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
devteam
parents: 3
diff changeset
594 <option value="set">Set posterior integration limit</option>
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diff changeset
595 </param>
6
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596 <when value="do_not_set" /><!-- do nothing -->
4
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597 <when value="set">
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598 <param name="S" value="" type="integer"
6
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599 label="Limit posterior integration to samples where the second-best genotype likelihood is no more than log(N) from the highest genotype likelihood for the sample."
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600 help="default=~unbounded" argument="--genotype-variant-threshold" />
4
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601 </when>
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602 </conditional>
6
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603 <param name="j" type="boolean" truevalue="-j" falsevalue="" checked="False"
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604 label="Use mapping quality of alleles when calculating data likelihoods"
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605 help="default=False" argument="--use-mapping-quality" />
4
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606 <param name="H" type="boolean" truevalue="-H" falsevalue="" checked="False"
6
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607 label="Use a weighted sum of base qualities around an indel, scaled by the distance from the indel"
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608 help="default=use a minimum Base Quality in flanking sequence." argument="--harmonic-indel-quality" />
4
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609 <param name="D" type="float" value="0.9" label="Incorporate non-independence of reads by scaling successive observations by this factor during data likelihood calculations"
6
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610 help="default=0.9." argument="--read-dependence-factor" />
4
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611 <param name="genotype_qualities" type="boolean" truevalue="--genotype-qualities" falsevalue="" checked="False"
6
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612 label="Calculate the marginal probability of genotypes and report as GQ in each sample field in the VCF output"
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613 help="-= --genotype-qualities; default=False " />
4
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614 </when>
6
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615 <when value="do_not_set" /><!-- do nothing -->
4
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616 </conditional>
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617 </when>
6
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618 <when value="simple" /><!-- do nothing -->
4
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619 <when value="simple_w_filters">
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620 <!-- add standard-filters to command line -->
6
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621 <expand macro="par_min_cov" />
4
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622 </when>
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623 <when value="naive">
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624 <!-- do nothing build command line using haplotype-length 0 min-alternate-count 1 min-alternate-fraction 0 pooled-continuous report-monomorphic -->
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625 </when>
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626 <when value="naive_w_filters">
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627 <!-- do nothing build command line using haplotype-length 0 min-alternate-count 1 min-alternate-fraction 0 pooled-continuous report-monomorphic standard-filters-->
6
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628 <expand macro="par_min_cov" />
4
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629 </when>
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630 </conditional>
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631 </inputs>
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632 <outputs>
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633 <data format="vcf" name="output_vcf" label="${tool.name} on ${on_string} (variants)" />
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634 <data format="bed" name="output_failed_alleles_bed" label="${tool.name} on ${on_string} (failed alleles)">
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635 <filter>( options_type['options_type_selector'] == 'cline' or options_type['options_type_selector'] == 'full' ) and options_type['optional_inputs']['optional_inputs_selector'] == 'set' and options_type['optional_inputs']['output_failed_alleles_option'] is True</filter>
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diff changeset
636 </data>
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637 <data format="txt" name="output_trace" label="${tool.name} on ${on_string} (trace)">
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638 <filter>( options_type['options_type_selector'] == 'cline' or options_type['options_type_selector'] == 'full' ) and options_type['optional_inputs']['optional_inputs_selector'] == 'set' and options_type['optional_inputs']['output_trace_option'] is True</filter>
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diff changeset
639 </data>
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diff changeset
640 </outputs>
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diff changeset
641 <tests>
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642 <test>
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643 <param name="reference_source_selector" value="history" />
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644 <param name="ref_file" ftype="fasta" value="freebayes-phix174.fasta"/>
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645 <param name="input_bams" ftype="bam" value="freebayes-phix174.bam"/>
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646 <param name="options_type_selector" value="simple"/>
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647 <output name="output_vcf" file="freebayes-phix174-test1.vcf" compare="contains"/>
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648 </test>
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649 <test>
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650 <param name="reference_source_selector" value="history" />
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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651 <param name="ref_file" ftype="fasta" value="freebayes-phix174.fasta"/>
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652 <param name="input_bams" ftype="bam" value="freebayes-phix174.bam"/>
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653 <param name="options_type_selector" value="naive_w_filters"/>
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654 <param name="min_coverage" value="14"/>
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655 <output name="output_vcf" file="freebayes-phix174-test2.vcf" compare="contains"/>
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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656 </test>
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657 <test>
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658 <param name="reference_source_selector" value="history" />
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659 <param name="ref_file" ftype="fasta" value="freebayes-phix174.fasta"/>
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660 <param name="input_bams" ftype="bam" value="freebayes-phix174.bam"/>
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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661 <param name="options_type_selector" value="naive_w_filters"/>
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662 <param name="min_coverage" value="14"/>
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663 <output name="output_vcf" file="freebayes-phix174-test3.vcf" compare="contains"/>
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664 </test>
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665 <test>
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666 <param name="reference_source_selector" value="history" />
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667 <param name="ref_file" ftype="fasta" value="freebayes-phix174.fasta"/>
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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668 <param name="input_bams" ftype="bam" value="freebayes-phix174.bam"/>
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
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669 <param name="options_type_selector" value="full"/>
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670 <param name="population_model_selector" value="set"/>
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671 <param name="P" value="1"/>
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672 <output name="output_vcf" file="freebayes-phix174-test4.vcf" compare="contains"/>
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673 </test>
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674 </tests>
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675 <help>
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676 **What it does**
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677
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678 FreeBayes is a Bayesian genetic variant detector designed to find small polymorphisms, specifically SNPs (single-nucleotide polymorphisms), indels (insertions and deletions), MNPs (multi-nucleotide polymorphisms), and complex events (composite insertion and substitution events) smaller than the length of a short-read sequencing alignment.
0
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679
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680 See https://github.com/ekg/freebayes for details on FreeBayes.
0
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681
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682 ------
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683
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684 **Description**
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685
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686 Privided BAM file(s) and a reference. FreeBayes will provide VCF output on standard out describing SNPs, indels, and complex variants in samples in the input alignments.
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diff changeset
687
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diff changeset
688 By default, FreeBayes will consider variants supported by at least 2 observations in a single sample (-C) and also by at least 20% of the reads from a single sample (-F). These settings are suitable to low to high depth sequencing in haploid and diploid samples, but users working with polyploid or pooled samples may wish to adjust them depending on the characteristics of their sequencing data.
0
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parents:
diff changeset
689
2
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parents: 0
diff changeset
690 FreeBayes is capable of calling variant haplotypes shorter than a read length where multiple polymorphisms segregate on the same read. The maximum distance between polymorphisms phased in this way is determined by the --max-complex-gap, which defaults to 3bp. In practice, this can comfortably be set to half the read length.
0
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parents:
diff changeset
691
2
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parents: 0
diff changeset
692 Ploidy may be set to any level (-p), but by default all samples are assumed to be diploid. FreeBayes can model per-sample and per-region variation in copy-number (-A) using a copy-number variation map.
0
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parents:
diff changeset
693
2
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parents: 0
diff changeset
694 FreeBayes can act as a frequency-based pooled caller and describe variants and haplotypes in terms of observation frequency rather than called genotypes. To do so, use --pooled-continuous and set input filters to a suitable level. Allele observation counts will be described by AO and RO fields in the VCF output.
0
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devteam
parents:
diff changeset
695
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devteam
parents:
diff changeset
696 -------
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devteam
parents:
diff changeset
697
2
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parents: 0
diff changeset
698 **Galaxy-specific options**
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parents: 0
diff changeset
699
6
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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parents: 5
diff changeset
700 Galaxy allows five levels of control over FreeBayes options provided by **Choose parameter selection level** menu option. These are:
0
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parents:
diff changeset
701
2
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parents: 0
diff changeset
702 1. *Simple diploid calling*: The simples possible FreeBayes application. Equvalent of using FreeBayes with only a BAM input and no other parameter options.
6
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
iuc
parents: 5
diff changeset
703 2. *Simple diploid calling with filtering and coverage*: Same as #1 plus two additional options: -0 (standard filters: --min-mapping-quality 30 --min-base-quality 20 --min-supporting-allele-qsum 0 --genotype-varinat-threshold 0) and --min-coverage.
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
iuc
parents: 5
diff changeset
704 3. *Frequency-based pooled calling*: This is equivalent to using FreeBayes with the following options: --haplotype-length 0 --min-alternate-count 1 --min-alternate-fraction 0 --pooled-continuous --report-monomorphic. This is the best choice for calling varinats in mixtures such as viral, bacterial, or organellar genomes.
2
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parents: 0
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705 4. *Frequency-based pooled calling with filtering and coverage*: Same as #3 but adds -0 and --min-coverage like in #2.
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diff changeset
706 5. *Complete list of all options*: Gives you full control by exposing all FreeBayes options as Galaxy widgets.
0
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parents:
diff changeset
707
2
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parents: 0
diff changeset
708 -----
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parents: 0
diff changeset
709
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diff changeset
710 **FreeBayes options**
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711
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diff changeset
712 .. class:: infomark
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713
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714 Note that each Galaxy parameter widget corresponding to command line flags listed below:
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715
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716 Input and output::
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717
0
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parents:
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718 -t --targets FILE
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parents:
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719 Limit analysis to targets listed in the BED-format FILE.
2
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720 -r --region chrom:start_position-end_position
0
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parents:
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721 Limit analysis to the specified region, 0-base coordinates,
2
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722 end_position included. Either '-' or '..' maybe used as a separator.
0
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parents:
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723 -s --samples FILE
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724 Limit analysis to samples listed (one per line) in the FILE.
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725 By default FreeBayes will analyze all samples in its input
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726 BAM files.
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727 --populations FILE
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728 Each line of FILE should list a sample and a population which
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729 it is part of. The population-based bayesian inference model
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devteam
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730 will then be partitioned on the basis of the populations.
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731 -A --cnv-map FILE
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parents:
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732 Read a copy number map from the BED file FILE, which has
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733 the format:
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734 reference sequence, start, end, sample name, copy number
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735 ... for each region in each sample which does not have the
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736 default copy number as set by --ploidy.
2
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737 --trace FILE Output an algorithmic trace to FILE.
0
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738 --failed-alleles FILE
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739 Write a BED file of the analyzed positions which do not
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740 pass --pvar to FILE.
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741 -@ --variant-input VCF
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742 Use variants reported in VCF file as input to the algorithm.
2
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743 Variants in this file will be treated as putative variants
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744 even if there is not enough support in the data to pass
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745 input filters.
0
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746 -l --only-use-input-alleles
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747 Only provide variant calls and genotype likelihoods for sites
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748 and alleles which are provided in the VCF input, and provide
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749 output in the VCF for all input alleles, not just those which
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750 have support in the data.
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751 --haplotype-basis-alleles VCF
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752 When specified, only variant alleles provided in this input
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753 VCF will be used for the construction of complex or haplotype
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754 alleles.
2
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755 --report-all-haplotype-alleles
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756 At sites where genotypes are made over haplotype alleles,
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757 provide information about all alleles in output, not only
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758 those which are called.
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759 --report-monomorphic
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760 Report even loci which appear to be monomorphic, and report all
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761 considered alleles, even those which are not in called genotypes.
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762 Loci which do not have any potential alternates have '.' for ALT.
0
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763
2
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764 Reporting::
0
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765
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766 -P --pvar N Report sites if the probability that there is a polymorphism
2
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767 at the site is greater than N. default: 0.0. Note that post-
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768 filtering is generally recommended over the use of this parameter.
0
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769
2
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770 Population model::
0
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771
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772 -T --theta N The expected mutation rate or pairwise nucleotide diversity
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773 among the population under analysis. This serves as the
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774 single parameter to the Ewens Sampling Formula prior model
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775 default: 0.001
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776 -p --ploidy N Sets the default ploidy for the analysis to N. default: 2
2
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777 -J --pooled-discrete
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778 Assume that samples result from pooled sequencing.
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779 Model pooled samples using discrete genotypes across pools.
0
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780 When using this flag, set --ploidy to the number of
2
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781 alleles in each sample or use the --cnv-map to define
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782 per-sample ploidy.
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783 -K --pooled-continuous
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784 Output all alleles which pass input filters, regardles of
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785 genotyping outcome or model.
0
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786
2
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diff changeset
787 Reference allele::
0
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788
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789 -Z --use-reference-allele
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diff changeset
790 This flag includes the reference allele in the analysis as
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791 if it is another sample from the same population.
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792 --reference-quality MQ,BQ
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devteam
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diff changeset
793 Assign mapping quality of MQ to the reference allele at each
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devteam
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794 site and base quality of BQ. default: 100,60
e21073b0dc1f Uploaded initial revision.
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diff changeset
795
2
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796 Allele scope::
0
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797
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diff changeset
798 -I --no-snps Ignore SNP alleles.
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parents:
diff changeset
799 -i --no-indels Ignore insertion and deletion alleles.
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devteam
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800 -X --no-mnps Ignore multi-nuceotide polymorphisms, MNPs.
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devteam
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801 -u --no-complex Ignore complex events (composites of other classes).
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802 -n --use-best-n-alleles N
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devteam
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803 Evaluate only the best N SNP alleles, ranked by sum of
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devteam
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diff changeset
804 supporting quality scores. (Set to 0 to use all; default: all)
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805 -E --max-complex-gap N
2
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diff changeset
806 --haplotype-length N
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diff changeset
807 Allow haplotype calls with contiguous embedded matches of up
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808 to this length. (default: 3)
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809 --min-repeat-size N
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810 When assembling observations across repeats, require the total repeat
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811 length at least this many bp. (default: 5)
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parents: 0
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812 --min-repeat-entropy N
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813 To detect interrupted repeats, build across sequence until it has
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814 entropy > N bits per bp. (default: 0, off)
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815 --no-partial-observations
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816 Exclude observations which do not fully span the dynamically-determined
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817 detection window. (default, use all observations, dividing partial
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818 support across matching haplotypes when generating haplotypes.)
0
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diff changeset
819
2
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820 Indel realignment::
0
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821
2
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822 -O --dont-left-align-indels
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823 Turn off left-alignment of indels, which is enabled by default.
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diff changeset
824
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825 Input filters::
0
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826
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827 -4 --use-duplicate-reads
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parents:
diff changeset
828 Include duplicate-marked alignments in the analysis.
2
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829 default: exclude duplicates marked as such in alignments
0
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parents:
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830 -m --min-mapping-quality Q
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parents:
diff changeset
831 Exclude alignments from analysis if they have a mapping
2
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832 quality less than Q. default: 1
0
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parents:
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833 -q --min-base-quality Q
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parents:
diff changeset
834 Exclude alleles from analysis if their supporting base
2
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parents: 0
diff changeset
835 quality is less than Q. default: 0
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parents: 0
diff changeset
836 -R --min-supporting-allele-qsum Q
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parents: 0
diff changeset
837 Consider any allele in which the sum of qualities of supporting
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838 observations is at least Q. default: 0
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diff changeset
839 -Y --min-supporting-mapping-qsum Q
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parents: 0
diff changeset
840 Consider any allele in which and the sum of mapping qualities of
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diff changeset
841 supporting reads is at least Q. default: 0
0
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parents:
diff changeset
842 -Q --mismatch-base-quality-threshold Q
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parents:
diff changeset
843 Count mismatches toward --read-mismatch-limit if the base
2
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parents: 0
diff changeset
844 quality of the mismatch is >= Q. default: 10
0
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parents:
diff changeset
845 -U --read-mismatch-limit N
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parents:
diff changeset
846 Exclude reads with more than N mismatches where each mismatch
2
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parents: 0
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847 has base quality >= mismatch-base-quality-threshold.
0
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parents:
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848 default: ~unbounded
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parents:
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849 -z --read-max-mismatch-fraction N
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devteam
parents:
diff changeset
850 Exclude reads with more than N [0,1] fraction of mismatches where
2
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851 each mismatch has base quality >= mismatch-base-quality-threshold
0
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parents:
diff changeset
852 default: 1.0
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parents:
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853 -$ --read-snp-limit N
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devteam
parents:
diff changeset
854 Exclude reads with more than N base mismatches, ignoring gaps
2
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parents: 0
diff changeset
855 with quality >= mismatch-base-quality-threshold.
0
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parents:
diff changeset
856 default: ~unbounded
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devteam
parents:
diff changeset
857 -e --read-indel-limit N
e21073b0dc1f Uploaded initial revision.
devteam
parents:
diff changeset
858 Exclude reads with more than N separate gaps.
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devteam
parents:
diff changeset
859 default: ~unbounded
e21073b0dc1f Uploaded initial revision.
devteam
parents:
diff changeset
860 -0 --standard-filters Use stringent input base and mapping quality filters
e21073b0dc1f Uploaded initial revision.
devteam
parents:
diff changeset
861 Equivalent to -m 30 -q 20 -R 0 -S 0
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devteam
parents:
diff changeset
862 -F --min-alternate-fraction N
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devteam
parents:
diff changeset
863 Require at least this fraction of observations supporting
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devteam
parents:
diff changeset
864 an alternate allele within a single individual in the
2
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parents: 0
diff changeset
865 in order to evaluate the position. default: 0.2
0
e21073b0dc1f Uploaded initial revision.
devteam
parents:
diff changeset
866 -C --min-alternate-count N
e21073b0dc1f Uploaded initial revision.
devteam
parents:
diff changeset
867 Require at least this count of observations supporting
e21073b0dc1f Uploaded initial revision.
devteam
parents:
diff changeset
868 an alternate allele within a single individual in order
2
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parents: 0
diff changeset
869 to evaluate the position. default: 2
0
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parents:
diff changeset
870 -3 --min-alternate-qsum N
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871 Require at least this sum of quality of observations supporting
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872 an alternate allele within a single individual in order
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873 to evaluate the position. default: 0
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874 -G --min-alternate-total N
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875 Require at least this count of observations supporting
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876 an alternate allele within the total population in order
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877 to use the allele in analysis. default: 1
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878 -! --min-coverage N
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devteam
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diff changeset
879 Require at least this coverage to process a site. default: 0
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880
2
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881 Population priors::
0
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882
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883 -k --no-population-priors
2
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884 Equivalent to --pooled-discrete --hwe-priors-off and removal of
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885 Ewens Sampling Formula component of priors.
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886
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887 Mappability priors::
0
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888
2
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889 -w --hwe-priors-off
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diff changeset
890 Disable estimation of the probability of the combination
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891 arising under HWE given the allele frequency as estimated
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892 by observation frequency.
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893 -V --binomial-obs-priors-off
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diff changeset
894 Disable incorporation of prior expectations about observations.
0
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895 Uses read placement probability, strand balance probability,
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896 and read position (5'-3') probability.
2
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897 -a --allele-balance-priors-off
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898 Disable use of aggregate probability of observation balance between alleles
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899 as a component of the priors.
0
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900
2
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901 Genotype likelihoods::
0
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902
2
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903 --observation-bias FILE
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904 Read length-dependent allele observation biases from FILE.
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905 The format is [length] [alignment efficiency relative to reference]
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906 where the efficiency is 1 if there is no relative observation bias.
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907 --base-quality-cap Q
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908 Limit estimated observation quality by capping base quality at Q.
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909 --experimental-gls
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910 Generate genotype likelihoods using 'effective base depth' metric
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911 qual = 1-BaseQual * 1-MapQual. Incorporate partial observations.
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912 This is the default when contamination estimates are provided.
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913 Optimized for diploid samples.
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914 --prob-contamination F
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915 An estimate of contamination to use for all samples. default: 10e-9
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916 --contamination-estimates FILE
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917 A file containing per-sample estimates of contamination, such as
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918 those generated by VerifyBamID. The format should be:
14f952d2a9db Uploaded
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919 sample p(read=R|genotype=AR) p(read=A|genotype=AA)
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920 Sample '*' can be used to set default contamination estimates.
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diff changeset
921
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922 Algorithmic features::
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923
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924 --report-genotype-likelihood-max
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diff changeset
925 Report genotypes using the maximum-likelihood estimate provided
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926 from genotype likelihoods.
0
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devteam
parents:
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927 -B --genotyping-max-iterations N
2
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diff changeset
928 Iterate no more than N times during genotyping step. default: 1000.
0
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devteam
parents:
diff changeset
929 --genotyping-max-banddepth N
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diff changeset
930 Integrate no deeper than the Nth best genotype by likelihood when
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devteam
parents:
diff changeset
931 genotyping. default: 6.
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devteam
parents:
diff changeset
932 -W --posterior-integration-limits N,M
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devteam
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diff changeset
933 Integrate all genotype combinations in our posterior space
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diff changeset
934 which include no more than N samples with their Mth best
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devteam
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diff changeset
935 data likelihood. default: 1,3.
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devteam
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diff changeset
936 -N --exclude-unobserved-genotypes
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devteam
parents:
diff changeset
937 Skip sample genotypings for which the sample has no supporting reads.
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devteam
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diff changeset
938 -S --genotype-variant-threshold N
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parents:
diff changeset
939 Limit posterior integration to samples where the second-best
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diff changeset
940 genotype likelihood is no more than log(N) from the highest
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diff changeset
941 genotype likelihood for the sample. default: ~unbounded
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devteam
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diff changeset
942 -j --use-mapping-quality
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devteam
parents:
diff changeset
943 Use mapping quality of alleles when calculating data likelihoods.
2
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944 -H --harmonic-indel-quality
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diff changeset
945 Use a weighted sum of base qualities around an indel, scaled by the
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diff changeset
946 distance from the indel. By default use a minimum BQ in flanking sequence.
0
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devteam
parents:
diff changeset
947 -D --read-dependence-factor N
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devteam
parents:
diff changeset
948 Incorporate non-independence of reads by scaling successive
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devteam
parents:
diff changeset
949 observations by this factor during data likelihood
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devteam
parents:
diff changeset
950 calculations. default: 0.9
2
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diff changeset
951 -= --genotype-qualities
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parents: 0
diff changeset
952 Calculate the marginal probability of genotypes and report as GQ in
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diff changeset
953 each sample field in the VCF output.
0
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diff changeset
954
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devteam
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diff changeset
955
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devteam
parents:
diff changeset
956 ------
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diff changeset
957
6
3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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958 **Acknowledgments**
0
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diff changeset
959
2
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960 The initial version of the wrapper was produced by Dan Blankenberg and upgraded by Anton Nekrutenko.
4
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961 TNG was developed by Bjoern Gruening
c171daf263dd planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/tools/freebayes commit cf4a70e780f104bc724323912b3b87fb37f887dd
devteam
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diff changeset
962 </help>
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3aacf7637e02 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/freebayes commit 2bfbb5ae6b801e43355fdc3f964a5111fe3fe3a1
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diff changeset
963 <expand macro="citations" />
0
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964 </tool>