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annotate tools/naive_variant_caller.xml @ 13:cfc86c3fc5c8 draft
planemo upload for repository https://github.com/blankenberg/tools-blankenberg/tree/master/tools/naive_variant_caller commit 470c2ac7bfb061e09dfe88ea61d2b8b53d041413
author | blankenberg |
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date | Fri, 17 Feb 2017 11:42:07 -0500 |
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ac0235d2d459
planemo upload for repository https://github.com/blankenberg/tools-blankenberg/tree/master/tools/naive_variant_caller commit ce964ed3ab7e390754fa03bb32a593fbe79dcf04
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1 <tool id="naive_variant_caller" name="Naive Variant Caller" version="0.0.2"> |
1
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2 <description> - tabulate variable sites from BAM datasets</description> |
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3 <requirements> |
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4 <requirement type="package" version="1.7.1">numpy</requirement> |
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5 <requirement type="package" version="0.0.1">pyBamParser</requirement> |
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ac0235d2d459
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6 <requirement type="package" version="0.0.2">pyBamTools</requirement> |
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7 </requirements> |
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8 <stdio> |
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9 <exit_code range="1:" err_level="fatal" /> |
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10 <exit_code range=":-1" err_level="fatal" /> |
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11 </stdio> |
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12 <command interpreter="python">naive_variant_caller.py |
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13 -o "${output_vcf}" |
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14 |
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15 #for $input_bam in $reference_source.input_bams: |
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16 -b "${input_bam.input_bam}" |
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17 -i "${input_bam.input_bam.metadata.bam_index}" |
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18 #end for |
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19 |
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20 #if $reference_source.reference_source_selector != "history": |
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21 -r "${reference_source.ref_file.fields.path}" |
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22 #elif $reference_source.ref_file: |
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23 -r "${reference_source.ref_file}" |
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24 #end if |
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25 |
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26 #for $region in $regions: |
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27 --region "${region.chromosome}:${region.start}-${region.end}" |
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28 #end for |
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29 |
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30 ${variants_only} |
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31 |
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32 ${use_strand} |
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33 |
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34 --ploidy "${$ploidy}" |
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35 |
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36 --min_support_depth "${min_support_depth}" |
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37 |
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38 #if str($min_base_quality): |
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39 --min_base_quality "${min_base_quality}" |
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40 #end if |
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41 |
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42 #if str($min_mapping_quality): |
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43 --min_mapping_quality "${min_mapping_quality}" |
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44 #end if |
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45 |
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46 --allow_out_of_bounds_positions |
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47 |
5 | 48 #if str( $advanced_options.advanced_options_selector ) == "advanced": |
8 | 49 #if str( $advanced_options.coverage_dtype ) != "guess": |
50 --coverage_dtype "${advanced_options.coverage_dtype}" | |
51 #end if | |
5 | 52 ${advanced_options.safe} |
53 #end if | |
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54 </command> |
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55 <version_command interpreter="python">naive_variant_caller.py --version</version_command> |
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56 <inputs> |
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57 <conditional name="reference_source"> |
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58 <param name="reference_source_selector" type="select" label="Choose the source for the reference list"> |
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59 <option value="cached">Locally cached</option> |
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60 <option value="history">History</option> |
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61 </param> |
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62 <when value="cached"> |
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63 <repeat name="input_bams" title="BAM file" min="1" > |
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64 <param name="input_bam" type="data" format="bam" label="BAM file"> |
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65 <validator type="unspecified_build" /> |
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66 <validator type="dataset_metadata_in_data_table" table_name="sam_fa_indexes" metadata_name="dbkey" metadata_column="value" message="Sequences are not currently available for the specified build." /> <!-- fixme!!! this needs to be a select --> |
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67 </param> |
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68 </repeat> |
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69 <param name="ref_file" type="select" label="Using reference genome" > |
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70 <options from_data_table="sam_fa_indexes"> |
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71 <!-- <filter type="data_meta" key="dbkey" ref="input_bam" column="dbkey"/> does not yet work in a repeat...--> |
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72 </options> |
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73 <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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74 </param> |
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75 </when> |
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76 <when value="history"> <!-- FIX ME!!!! --> |
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77 <repeat name="input_bams" title="BAM file" min="1" > |
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78 <param name="input_bam" type="data" format="bam" label="BAM file" > |
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79 </param> |
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80 </repeat> |
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81 <param name="ref_file" type="data" format="fasta" label="Using reference file" optional="True" /> |
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82 </when> |
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83 </conditional> |
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84 |
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85 <repeat name="regions" title="Restrict to regions" min="0" > |
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86 <param name="chromosome" type="text" value="" optional="False" label="Chromosome" /> |
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87 <param name="start" type="integer" value="" optional="True" label="Start" /> |
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88 <param name="end" type="integer" value="" optional="True" label="End" /> |
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89 </repeat> |
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90 |
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91 <!-- TODO: enhance filtering --> |
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92 <param name="min_support_depth" type="integer" value="0" min="0" label="Minimum number of reads needed to consider a REF/ALT" /> |
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93 <param name="min_base_quality" type="integer" value="" label="Minimum base quality" optional="True" /> |
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94 <param name="min_mapping_quality" type="integer" value="" label="Minimum mapping quality" optional="True" /> |
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95 |
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96 <param name="ploidy" type="integer" value="2" min="1" label="Ploidy" /> |
9 | 97 <param name="variants_only" type="boolean" truevalue="--variants_only" falsevalue="" checked="False" label="Only write out positions with possible alternate alleles"/> |
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98 |
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99 <param name="use_strand" type="boolean" truevalue="--use_strand" falsevalue="" checked="False" label="Report counts by strand"/> |
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100 |
5 | 101 <conditional name="advanced_options"> |
102 <param name="advanced_options_selector" type="select" label="Show Advanced Options"> | |
103 <option value="basic" selected="True">Hide Advanced Options</option> | |
104 <option value="advanced">Show Advanced Options</option> | |
105 </param> | |
106 <when value="basic"> | |
107 <!-- Do nothing here --> | |
108 </when> | |
109 <when value="advanced"> | |
110 <param name="coverage_dtype" type="select" label="Choose the dtype to use for storing coverage information" help="This affects the maximum recorded value for a position, e.g. uint8 would be 255 coverage, but will require the least amount of RAM"> | |
8 | 111 <option value="guess" selected="True">Guess</option> |
5 | 112 <option value="uint8">uint8</option> |
113 <option value="uint16">uint16</option> | |
114 <option value="uint32">uint32</option> | |
8 | 115 <option value="uint64">uint64</option> |
5 | 116 </param> |
117 <param name="safe" type="boolean" truevalue="--safe" falsevalue="" checked="False" label="Be extra safe"/> | |
118 </when> | |
119 </conditional> | |
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120 |
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121 </inputs> |
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122 <outputs> |
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123 <data format="vcf" name="output_vcf" /> |
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124 </outputs> |
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125 <help> |
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126 **What it does** |
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127 |
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128 This tool is a naive variant caller that processes aligned sequencing reads from the BAM format and produces a VCF file containing per position variant calls. This tool allows multiple BAM files to be provided as input and utilizes read group information to make calls for individual samples. |
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129 |
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130 User configurable options allow filtering reads that do not pass mapping or base quality thresholds and minimum per base read depth; user's can also specify the ploidy and whether to consider each strand separately. |
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131 |
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132 In addition to calling alternate alleles based upon simple ratios of nucleotides at a position, per base nucleotide counts are also provided. A custom tag, NC, is used within the Genotype fields. The NC field is a comma-separated listing of nucleotide counts in the form of <nucleotide>=<count>, where a plus or minus character is prepended to indicate strand, if the strandedness option was specified. |
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133 |
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134 |
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135 ------ |
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136 |
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137 **Inputs** |
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138 |
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139 Accepts one or more BAM input files and a reference genome from the built-in list or from a FASTA file in your history. |
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140 |
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141 |
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142 **Outputs** |
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143 |
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144 The output is in VCF format. |
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145 |
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146 Example VCF output line, without reporting by strand: |
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147 ``chrM 16029 . T G,A,C . . AC=15,9,5;AF=0.00155311658729,0.000931869952371,0.000517705529095 GT:AC:AF:NC 0/0:15,9,5:0.00155311658729,0.000931869952371,0.000517705529095:A=9,C=5,T=9629,G=15,`` |
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148 |
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149 Example VCF output line, when reporting by strand: |
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150 ``chrM 16029 . T G,A,C . . AC=15,9,5;AF=0.00155311658729,0.000931869952371,0.000517705529095 GT:AC:AF:NC 0/0:15,9,5:0.00155311658729,0.000931869952371,0.000517705529095:+T=3972,-A=9,-C=5,-T=5657,-G=15,`` |
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151 |
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152 **Options** |
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153 |
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154 Reference Genome: |
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155 |
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156 Ensure that you have selected the correct reference genome, either from the list of built-in genomes or by selecting the corresponding FASTA file from your history. |
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157 |
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158 Restrict to regions: |
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159 |
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160 You can specify any number of regions on which you would like to receive results. You can specify just a chromosome name, or a chromosome name and start postion, or a chromosome name and start and end position for the set of desired regions. |
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161 |
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162 Minimum number of reads needed to consider a REF/ALT: |
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163 |
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164 This value declares the minimum number of reads containing a particular base at each position in order to list and use said allele in genotyping calls. Default is 0. |
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165 |
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166 Minimum base quality: |
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167 |
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168 The minimum base quality score needed for the position in a read to be used for nucleotide counts and genotyping. Default is no filter. |
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169 |
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170 Minimum mapping quality: |
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171 |
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172 The minimum mapping quality score needed to consider a read for nucleotide counts and genotyping. Default is no filter. |
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173 |
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174 Ploidy: |
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175 |
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176 The number of genotype calls to make at each reported position. |
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177 |
9 | 178 Only write out positions with possible alternate alleles: |
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179 |
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180 When set, only positions which have at least one non-reference nucleotide which passes declare filters will be present in the output. |
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181 |
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182 Report counts by strand: |
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183 |
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184 When set, nucleotide counts (NC) will be reported in reference to the aligned read's source strand. Reported as: <strand><BASE>=<COUNT>. |
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185 |
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186 Choose the dtype to use for storing coverage information: |
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187 |
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188 This controls the maximum depth value for each nucleotide/position/strand (when specified). Smaller values require the least amount of memory, but have smaller maximal limits. |
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189 |
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190 +--------+----------------------------+ |
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191 | name | maximum coverage value | |
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192 +========+============================+ |
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193 | uint8 | 255 | |
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194 +--------+----------------------------+ |
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195 | uint16 | 65,535 | |
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196 +--------+----------------------------+ |
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197 | uint32 | 4,294,967,295 | |
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198 +--------+----------------------------+ |
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199 | uint64 | 18,446,744,073,709,551,615 | |
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200 +--------+----------------------------+ |
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201 |
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202 |
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203 </help> |
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204 <tests> |
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205 <test> |
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206 <param name="reference_source_selector" value="history" /> |
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207 <param name="input_bam" value="fake_phiX174_reads_1.bam" ftype="bam" /> |
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208 <param name="ref_file" value="phiX174.fasta" ftype="fasta" /> |
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209 <param name="regions" value="0" /> |
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210 <param name="min_support_depth" value="0" /> |
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211 <param name="min_base_quality" value="" /> |
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212 <param name="min_mapping_quality" value="" /> |
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213 <param name="ploidy" value="2" /> |
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214 <param name="variants_only" value="False" /> |
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215 <param name="use_strand" value="False" /> |
5 | 216 <param name="advanced_options_selector" value="advanced" /> |
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217 <param name="coverage_dtype" value="uint8" /> |
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218 <output name="output_vcf" file="fake_phiX174_reads_1_test_out_1.vcf" compare="contains" /> |
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219 </test> |
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220 </tests> |
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221 |
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222 <citations> |
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223 <citation type="doi">10.1186/gb4161</citation> |
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224 </citations> |
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225 |
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226 </tool> |