annotate minimap2.xml @ 0:9b44afd426fd draft

planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
author iuc
date Fri, 03 Nov 2017 16:57:51 -0400
parents
children acb6d016cabe
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9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
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1 <?xml version="1.0"?>
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2 <tool id="minimap2" name="Map with minimap2" version="2.3" profile="17.01">
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3 <description>- A fast pairwise aligner for genomic and spliced nucleotide sequences</description>
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4 <requirements>
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5 <requirement type="package" version="2.3">minimap2</requirement>
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6 <requirement type="package" version="1.6">samtools</requirement>
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7 </requirements>
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8 <version_command>minimap2 --version</version_command>
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9 <command>
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10 <![CDATA[
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11 ln -f -s '$reference_source.ref_file' reference.fa &&
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12 minimap2 -a
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13 -x $analysis_type_selector
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14 ## indexing options
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15 #if $indexing_options.k:
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16 -k $indexing_options.k
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17 #end if
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18 #if $indexing_options.w:
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19 -w $indexing_options.w
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20 #end if
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21 #if $indexing_options.I:
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22 -I $indexing_options.I
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23 #end if
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24 ## Mapping options
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25 #if $mapping_options.f:
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26 -f $mapping_options.f
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27 #end if
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28 #if $mapping_options.g:
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29 -g $mapping_options.g
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30 #end if
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31 #if $mapping_options.G:
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32 -G $mapping_options.G
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33 #end if
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34 #if $mapping_options.F:
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35 -F $mapping_options.F
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36 #end if
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37 #if $mapping_options.r:
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38 -r $mapping_options.r
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39 #end if
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40 #if $mapping_options.n:
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41 -n $mapping_options.n
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42 #end if
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43 #if $mapping_options.m:
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44 -m $mapping_options.m
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45 #end if
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46 $mapping_options.X
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47 #if $mapping_options.p:
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48 -p $mapping_options.p
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49 #end if
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50 #if $mapping_options.N:
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51 -N $mapping_options.N
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52 #end if
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53 ## Alignment options
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54 #if $alignment_options.A:
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55 -A $alignment_options.A
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56 #end if
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57 #if $alignment_options.B:
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58 -B $alignment_options.B
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59 #end if
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60 #if $alignment_options.O:
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61 -O $alignment_options.O
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62 #end if
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63 #if $alignment_options.E:
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64 -E $alignment_options.E
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65 #end if
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66 #if $alignment_options.z:
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67 $alignment_options.z
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68 #end if
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69 #if $alignment_options.s:
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70 -s $alignment_options.s
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71 #end if
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72 #if $alignment_options.u:
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73 -u $alignment_options.u
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74 #end if
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75 ## Output options
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76 $io_options.Q
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77 $io_options.L
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78 #if $io_options.cs:
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79 --cs $io_options.cs
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80 #end if
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81 #if $io_options.K:
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82 -K $io_options.K
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83 #end if
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84 -t \${GALAXY_SLOTS:-4}
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85 reference.fa
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86 #if $fastq_input.fastq_input_selector in ['single', 'paired_iv']:
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87 '$fastq_input.fastq_input1'
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88 #else if $fastq_input.fastq_input_selector == 'paired':
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89 '$fastq_input.fastq_input1' '$fastq_input.fastq_input2'
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90 #else if $fastq_input.fastq_input_selector == 'paired_collection':
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91 '$fastq_input.fastq_input1.forward' '$fastq_input.fastq_input2.reverse'
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92 #end if
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93 | samtools sort
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94 -@\${GALAXY_SLOTS:-2}
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95 -O BAM
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96 #if $io_options.output_format == 'CRAM':
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97 -l 0| samtools view -T reference.fa -C
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98 #end if
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99 > '$alignment_output'
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100 ]]>
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101 </command>
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102 <inputs>
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103 <conditional name="reference_source">
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104 <param name="reference_source_selector" type="select" label="Will you select a reference genome from your history or use a built-in index?" help="Built-ins were indexed using default options. See `Indexes` section of help below">
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105 <option value="cached">Use a built-in genome index</option>
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106 <option value="history">Use a genome from history and build index</option>
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107 </param>
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108 <when value="cached">
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109 <param name="ref_file" type="select" label="Using reference genome" help="Select genome from the list">
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110 <options from_data_table="all_fasta">
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111 <filter type="sort_by" column="2" />
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112 <validator type="no_options" message="No reference genomes are available" />
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113 </options>
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114 <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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115 </param>
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116 </when>
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117 <when value="history">
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118 <param name="ref_file" type="data" format="fasta" label="Use the following dataset as the reference sequence" help="You can upload a FASTA sequence to the history and use it as reference" />
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119 </when>
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120 </conditional>
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121 <section name="indexing_options" title="Indexing options">
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122 <!-- Homopolymer setting seems to not properly overwrite sr preset
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123 <param argument="-H" name="H" type="boolean" optional="true" truevalue="-H" falsevalue="" label="Use homopolymer-compressed k-mer ?"/>
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124 -->
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125 <param argument="-k" type="integer" min="4" max="28" optional="true" label="k-mer size" help=""/>
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126 <param argument="-w" type="integer" min="1" optional="true" label="minimizer window size" help=""/>
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127 <param argument="-I" type="integer" min="1" optional="true" label="split index for every N input gigabases" help=""/>
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128 </section>
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129 <!-- start unchanged copy from bwa-mem -->
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130 <conditional name="fastq_input">
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131 <param name="fastq_input_selector" type="select" label="Single or Paired-end reads" help="Select between paired and single end data">
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132 <option value="single">Single</option>
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133 <option value="paired">Paired</option>
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134 <option value="paired_collection">Paired Collection</option>
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135 <option value="paired_iv">Paired Interleaved</option>
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136 </param>
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137 <when value="paired">
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138 <param name="fastq_input1" type="data" format="fastqsanger,fastqsanger.gz,fasta" label="Select first set of reads" help="Specify dataset with forward reads"/>
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139 <param name="fastq_input2" type="data" format="fastqsanger,fastqsanger.gz,fasta" label="Select second set of reads" help="Specify dataset with reverse reads"/>
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140 </when>
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141 <when value="single">
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142 <param name="fastq_input1" type="data" format="fastqsanger,fastqsanger.gz,fasta" label="Select fastq dataset" help="Specify dataset with single reads"/>
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143 </when>
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144 <when value="paired_collection">
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145 <param name="fastq_input1" format="fastqsanger,fastqsanger.gz,fasta" type="data_collection" collection_type="paired" label="Select a paired collection" help="See help section for an explanation of dataset collections"/>
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146 </when>
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147 <when value="paired_iv">
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148 <param name="fastq_input1" type="data" format="fastqsanger,fastqsanger.gz,fasta" label="Select fastq dataset" help="Specify dataset with interleaved reads"/>
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149 </when>
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150 </conditional>
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151 <!-- end unchanged copy from bwa-mem -->
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152 <param name="analysis_type_selector" type="select" label="Select analysis mode (sets default)">
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153 <option value="map-pb">-Hk19 (PacBio vs reference mapping)</option>
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154 <option value="map-ont">-k15 (Oxford Nanopore vs reference mapping)</option>
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155 <option value="asm5">-k19 -w19 -A1 -B19 -O39,81 -E3,1 -s200 -z200 (asm to ref mapping; break at 5% div.)</option>
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156 <option value="asm10">-k19 -w19 -A1 -B9 -O16,41 -E2,1 -s200 -z200 (asm to ref mapping; break at 10% div.)</option>
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157 <option value="ava-pb">-Hk19 -w5 -Xp0 -m100 -g10000 --max-chain-skip 25 (PacBio read overlap)</option>
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158 <option value="ava-ont">-k15 -w5 -Xp0 -m100 -g10000 --max-chain-skip 25 (ONT read overlap)</option>
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159 <option value="splice">long-read spliced alignment</option>
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160 <option value="sr">short single-end reads without splicing</option>
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161 </param>
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162 <section name="mapping_options" title="Set advanced mapping options" help="Sets -f, -g, -G, -F, -r, -n, -m, -X, -p, and -N options." expanded="False">
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163 <param argument="-f" type="float" value="" optional="true" label="filter out top FLOAT fraction of repetitive minimizers" help="default=0.0002"/>
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164 <param argument="-g" type="integer" value="" optional="true" label="stop chain enlongation if there are no minimizers in INT-bp" help="default=5000"/>
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165 <param argument="-G" type="integer" value="" optional="true" label="max intron length in thousand (effective with -xsplice; changing -r)" help="default=200"/>
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166 <param argument="-F" type="integer" value="" optional="true" label="max fragment length (effective with -xsr or in the fragment mode)" help="default=800" />
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167 <param argument="-r" type="integer" value="" optional="true" label="bandwidth used in chaining and DP-based alignment" help="default=500" />
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168 <param argument="-n" type="integer" value="" optional="true" label="minimal number of minimizers on a chain" help="default=3"/>
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169 <param argument="-m" type="integer" value="" optional="true" label="minimal chaining score (matching bases minus log gap penalty)" help="default=40"/>
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170 <param argument="-X" type="boolean" truevalue="-X" falsevalue="" optional="true" label="skip self and dual mappings (for the all-vs-all mode)"/>
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171 <param argument="-p" type="float" value="" max="1" optional="true" label="min secondary-to-primary score ratio" help="default=0.8"/>
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172 <param argument="-N" type="integer" min="0" optional="true" label="retain at most INT secondary alignments" help="default=5"/>
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173 </section>
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174 <section name="alignment_options" title="Set advanced alignment options" help="Sets -Q, -L, -R, -c, --cs, and -K options." expanded="False">
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175 <param argument="-A" type="integer" optional="true" label="Score for a sequence match" help="default=2"/>
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176 <param argument="-B" type="integer" optional="true" label="Penalty for a mismatch" help="-B; default=4" />
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177 <param argument="-O" type="text" optional="true" label="Gap open penalties for deletions and insertions" help="-O; default=4,24">
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178 <sanitizer invalid_char="">
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179 <valid initial="string.digits"><add value=","/> </valid>
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180 </sanitizer>
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181 </param>
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182 <param argument="-E" type="text" optional="true" label="Gap extension penalties; a gap of size k cost &#39;-O + -E*k&#39;. If two numbers are specified, the first is the penalty of extending a deletion and the second for extending an insertion" help="-E; default=2,1">
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183 <sanitizer invalid_char="">
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184 <valid initial="string.digits"><add value=","/> </valid>
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185 </sanitizer>
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186 </param>
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187 <param argument="-z" type="integer" optional="true" label="Z-drop score" help="default=400"/>
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188 <param argument="-s" type="integer" optional="true" label="minimal peak DP alignment score" help="default=80"/>
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189 <param argument="-u" type="select" optional="true" label="how to find GT-AG">
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190 <option value="n">don't match GT-AG</option>
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191 <option value="f">transcript strand</option>
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192 <option value="b">both strands</option>
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193 </param>
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194 </section>
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195 <section name="io_options" title="Set advanced output options" help="Sets -T, -h, -a, -C, -V, -Y, and -M options." expanded="False">
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196 <param name="output_format" type="select" label="Produce BAM or CRAM file?">
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197 <option value="BAM">BAM</option>
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198 <option value="CRAM">CRAM</option>
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199 </param>
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200 <param argument="-Q" type="boolean" truevalue="-Q" falsevalue="" optional="true" label="don't output base quality"/>
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201 <param argument="-L" type="boolean" truevalue="-L" falsevalue="" optional="true" label="write CIGAR with >65535 ops to the CG tag" help="Useful for very long reads in SAM/BAM format"/>
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202 <param argument="-K" type="integer" optional="true" label="minibatch size for mapping (in megabyte)" help="default=500M"/>
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203 <param argument="--cs" type="select" optional="true" label="Output cs tag?" help="The cs tag is a more compact standalone representation of the MD tag, see help below.">
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204 <option value="none">no</option>
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205 <option value="short">short</option>
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206 <option value="long">long</option>
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207 </param>
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208 </section>
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209 </inputs>
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210 <outputs>
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211 <data format="bam" name="alignment_output" label="${tool.name} on ${on_string} (mapped reads in ${io_options.output_format} format)">
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212 <actions>
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213 <conditional name="reference_source.reference_source_selector">
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214 <when value="cached">
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215 <action type="metadata" name="dbkey">
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216 <option type="from_data_table" name="all_fasta" column="1" offset="0">
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217 <filter type="param_value" column="0" value="#" compare="startswith" keep="False"/>
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218 <filter type="param_value" ref="reference_source.ref_file" column="0"/>
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219 </option>
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220 </action>
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221 </when>
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222 <when value="history">
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223 <action type="metadata" name="dbkey">
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224 <option type="from_param" name="reference_source.ref_file" param_attribute="dbkey" />
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225 </action>
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226 </when>
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227 </conditional>
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228 </actions>
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229 <change_format>
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230 <when input="io_options.output_format" value="CRAM" format="cram" />
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231 </change_format>
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232 </data>
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233 </outputs>
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234 <tests>
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235 <test>
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236 <param name="reference_source_selector" value="history" />
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237 <param name="ref_file" ftype="fasta" value="bwa-mem-mt-genome.fa"/>
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238 <param name="fastq_input_selector" value="paired"/>
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239 <param name="fastq_input1" ftype="fastqsanger" value="bwa-mem-fastq1.fq"/>
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240 <param name="fastq_input2" ftype="fastqsanger" value="bwa-mem-fastq2.fq"/>
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241 <param name="analysis_type_selector" value="sr"/>
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242 <output name="alignment_output" ftype="bam" file="bwa-mem-test1.bam" lines_diff="2" />
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243 </test>
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244 <test>
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245 <param name="reference_source_selector" value="history" />
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246 <param name="ref_file" ftype="fasta" value="bwa-mem-mt-genome.fa"/>
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247 <param name="fastq_input_selector" value="single"/>
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248 <param name="fastq_input1" ftype="fastqsanger" value="bwa-mem-fasta1.fa"/>
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249 <param name="analysis_type_selector" value="sr"/>
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250 <output name="alignment_output" ftype="bam" file="bwa-mem-test1-fasta.bam" lines_diff="2" />
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251 </test>
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252 <test>
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253 <param name="reference_source_selector" value="history" />
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254 <param name="ref_file" ftype="fasta" value="bwa-mem-mt-genome.fa"/>
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255 <param name="fastq_input_selector" value="paired"/>
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256 <param name="fastq_input1" ftype="fastqsanger.gz" value="bwa-mem-fastq1.fq.gz"/>
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257 <param name="fastq_input2" ftype="fastqsanger" value="bwa-mem-fastq2.fq"/>
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258 <param name="analysis_type_selector" value="sr"/>
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259 <output name="alignment_output" ftype="bam" file="bwa-mem-test1.bam" lines_diff="2" />
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260 </test>
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261 <test>
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262 <param name="reference_source_selector" value="history" />
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263 <param name="ref_file" ftype="fasta" value="bwa-mem-mt-genome.fa"/>
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264 <param name="fastq_input_selector" value="paired"/>
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265 <param name="fastq_input1" ftype="fastqsanger" value="bwa-mem-fastq1.fq"/>
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266 <param name="fastq_input2" ftype="fastqsanger" value="bwa-mem-fastq2.fq"/>
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267 <param name="analysis_type_selector" value="sr"/>
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268 <output name="alignment_output" ftype="bam" file="bwa-mem-test2.bam" lines_diff="2" />
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269 </test>
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270 </tests>
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271 <help>
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272
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273 Users’ Guide
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274 ------------
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275
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276 Minimap2 is a versatile sequence alignment program that aligns DNA or
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277 mRNA sequences against a large reference database. Typical use cases
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278 include: (1) mapping PacBio or Oxford Nanopore genomic reads to the
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279 human genome; (2) finding overlaps between long reads with error rate up
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280 to ~15%; (3) splice-aware alignment of PacBio Iso-Seq or Nanopore cDNA
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281 or Direct RNA reads against a reference genome; (4) aligning Illumina
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282 single- or paired-end reads; (5) assembly-to-assembly alignment; (6)
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283 full-genome alignment between two closely related species with
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284 divergence below ~15%.
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285
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286 For ~10kb noisy reads sequences, minimap2 is tens of times faster than
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287 mainstream long-read mappers such as BLASR, BWA-MEM, NGMLR and GMAP. It
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288 is more accurate on simulated long reads and produces biologically
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289 meaningful alignment ready for downstream analyses. For >100bp Illumina
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290 short reads, minimap2 is three times as fast as BWA-MEM and Bowtie2, and
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291 as accurate on simulated data. Detailed evaluations are available from
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292 the `minimap2 preprint`.
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293
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294 General usage
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295 ~~~~~~~~~~~~~
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296
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297 Minimap2 seamlessly works with gzip’d FASTA and FASTQ formats as input.
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298 You don’t need to convert between FASTA and FASTQ or decompress gzip’d
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299 files first.
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300
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301 For the human reference genome, minimap2 takes a few minutes to generate
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302 a minimizer index for the reference before mapping. To reduce indexing
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303 time, you can optionally save the index with option **-d** and replace
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304 the reference sequence file with the index file on the minimap2 command
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305 line:
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306
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307 ***Importantly***, it should be noted that once you build the index,
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308 indexing parameters such as **-k**, **-w**, **-H** and **-I** can’t be
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309 changed during mapping. If you are running minimap2 for different data
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310 types, you will probably need to keep multiple indexes generated with
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311 different parameters. This makes minimap2 different from BWA which
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312 always uses the same index regardless of query data types.
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313
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314 Use cases
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315 ~~~~~~~~~
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316
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317 Minimap2 uses the same base algorithm for all applications. However, due
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318 to the different data types it supports (e.g. short vs long reads; DNA
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319 vs mRNA reads), minimap2 needs to be tuned for optimal performance and
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320 accuracy. It is usually recommended to choose a preset with option
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321 **-x**, which sets multiple parameters at the same time. The default
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322 setting is the same as ``map-ont``.
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323
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324 Map long noisy genomic reads
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325 ^^^^^^^^^^^^^^^^^^^^^^^^^^^^
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326
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327 The difference between ``map-pb`` and ``map-ont`` is that ``map-pb``
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328 uses homopolymer-compressed (HPC) minimizers as seeds, while ``map-ont``
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329 uses ordinary minimizers as seeds. Emperical evaluation suggests HPC
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330 minimizers improve performance and sensitivity when aligning PacBio
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331 reads, but hurt when aligning Nanopore reads.
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332
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333 Map long mRNA/cDNA reads
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334 ^^^^^^^^^^^^^^^^^^^^^^^^
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335
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336
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337 There are different long-read RNA-seq technologies, including
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338 tranditional full-length cDNA, EST, PacBio Iso-seq, Nanopore 2D cDNA-seq
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339 and Direct RNA-seq. They produce data of varying quality and properties.
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340 By default, ``-x splice`` assumes the read orientation relative to the
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341 transcript strand is unknown. It tries two rounds of alignment to infer
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342 the orientation and write the strand to the ``ts`` SAM/PAF tag if
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343 possible. For Iso-seq, Direct RNA-seq and tranditional full-length
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344 cDNAs, it would be desired to apply ``-u f`` to force minimap2 to
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345 consider the forward transcript strand only. This speeds up alignment
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346 with slight improvement to accuracy. For noisy Nanopore Direct RNA-seq
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347 reads, it is recommended to use a smaller k-mer size for increased
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348 sensitivity to the first or the last exons.
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349
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350 It is worth noting that by default ``-x splice`` prefers
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351 GT[A/G]..[C/T]AG over GT[C/T]..[A/G]AG, and then over other splicing
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352 signals. Considering one additional base improves the junction accuracy
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353 for noisy reads, but reduces the accuracy when aligning against the
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354 widely used SIRV control data. This is because SIRV does not honor the
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355 evolutionarily conservative splicing signal. If you are studying SIRV,
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356 you may apply ``--splice-flank=no`` to let minimap2 only model GT..AG,
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357 ignoring the additional base.
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358
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359 Find overlaps between long reads
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360 ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
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361
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362 Similarly, ``ava-pb`` uses HPC minimizers while ``ava-ont`` uses
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363 ordinary minimizers. It is usually not recommended to perform base-level
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364 alignment in the overlapping mode because it is slow and may produce
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365 false positive overlaps. However, if performance is not a concern, you
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366 may try to add ``-a`` or ``-c`` anyway.
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367
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368 Map short accurate genomic reads
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369 ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
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370
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371
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372 When two read files are specified, minimap2 reads from each file in turn
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373 and merge them into an interleaved stream internally. Two reads are
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374 considered to be paired if they are adjacent in the input stream and
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375 have the same name (with the ``/[0-9]`` suffix trimmed if present).
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376 Single- and paired-end reads can be mixed.
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377
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378 Minimap2 does not work well with short spliced reads. There are many
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379 capable RNA-seq mappers for short reads.
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380
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381 Full genome/assembly alignment
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382 ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
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383
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384 For cross-species full-genome alignment, the scoring system needs to be
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385 tuned according to the sequence divergence.
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386
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387 Advanced features
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diff changeset
388 ~~~~~~~~~~~~~~~~~
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389
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390 Working with >65535 CIGAR operations
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391 ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
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392
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393 Due to a design flaw, BAM does not work with CIGAR strings with >65535
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iuc
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diff changeset
394 operations (SAM and CRAM work). However, for ultra-long nanopore reads
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395 minimap2 may align ~1% of read bases with long CIGARs beyond the
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396 capability of BAM. If you convert such SAM/CRAM to BAM, Picard and
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397 recent samtools will throw an error and abort. Older samtools and other
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398 tools may create corrupted BAM.
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399
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400 To avoid this issue, you can add option ``-L`` at the minimap2 command
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401 line. This option moves a long CIGAR to the ``CG`` tag and leaves a
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402 fully clipped CIGAR at the SAM CIGAR column. Current tools that don’t
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403 read CIGAR (e.g. merging and sorting) still work with such BAM records;
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404 tools that read CIGAR will effectively ignore these records. I have pull
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
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diff changeset
405 requests to the SAM spec, htslib, htsjdk, bedtools2, Rsamtools and
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
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406 igv.js. If they are accepted, future versions of these tools will
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407 seamlessly recognize long-cigar records generated by option ``-L``.
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408
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409 **TD;DR**: if you work with ultra-long reads and use tools that only
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410 process BAM files, please add option ``-L``.
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411
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412 The cs optional tag
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413 ^^^^^^^^^^^^^^^^^^^
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414
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415 The ``cs`` SAM/PAF tag encodes bases at mismatches and INDELs. It
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
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parents:
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416 matches regular expression
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417 ``/(:[0-9]+|\*[a-z][a-z]|[=\+\-][A-Za-z]+)+/``. Like CIGAR, ``cs``
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418 consists of series of operations. Each leading character specifies the
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
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419 operation; the following sequence is the one involved in the operation.
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420
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421 The ``cs`` tag is enabled by command line option ``--cs``. The following
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422 alignment, for example:
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423
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424 .. code::
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425
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
426 CGATCGATAAATAGAGTAG---GAATAGCA
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
427 |||||| |||||||||| |||| |||
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
428 CGATCG---AATAGAGTAGGTCGAATtGCA
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
429
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
430 is represented as ``:6-ata:10+gtc:4*at:3``, where ``:[0-9]+`` represents
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
431 an identical block, ``-ata`` represents a deltion, ``+gtc`` an insertion
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
432 and ``*at`` indicates reference base ``a`` is substituted with a query
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
433 base ``t``. It is similar to the ``MD`` SAM tag but is standalone and
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
434 easier to parse.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
435
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
436 If ``--cs=long`` is used, the ``cs`` string also contains identical
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
437 sequences in the alignment. The above example will become
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
438 ``=CGATCG-ata=AATAGAGTAG+gtc=GAAT*at=GCA``. The long form of ``cs``
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
439 encodes both reference and query sequences in one string.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
440
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
441 Algorithm overview
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
442 ~~~~~~~~~~~~~~~~~~
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
443
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
444 In the following, minimap2 command line options have a dash ahead and
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
445 are highlighted in bold. The description may help to tune minimap2
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
446 parameters.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
447
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
448 1. Read **-I** [=*4G*] reference bases, extract
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
449 (**-k**,\ **-w**)-minimizers and index them in a hash table.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
450
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
451 2. Read **-K** [=*200M*] query bases. For each query sequence, do step 3
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
452 through 7:
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
453
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
454 3. For each (**-k**,\ **-w**)-minimizer on the query, check against the
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
455 reference index. If a reference minimizer is not among the top **-f**
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
456 [=*2e-4*] most frequent, collect its the occurrences in the
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
457 reference, which are called *seeds*.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
458
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
459 4. Sort seeds by position in the reference. Chain them with dynamic
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
460 programming. Each chain represents a potential mapping. For read
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
461 overlapping, report all chains and then go to step 8. For reference
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
462 mapping, do step 5 through 7:
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
463
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
464 5. Let *P* be the set of primary mappings, which is an empty set
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
465 initially. For each chain from the best to the worst according to
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
466 their chaining scores: if on the query, the chain overlaps with a
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
467 chain in *P* by **–mask-level** [=*0.5*] or higher fraction of the
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
468 shorter chain, mark the chain as *secondary* to the chain in *P*;
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
469 otherwise, add the chain to *P*.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
470
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
471 6. Retain all primary mappings. Also retain up to **-N** [=*5*] top
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
472 secondary mappings if their chaining scores are higher than **-p**
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
473 [=*0.8*] of their corresponding primary mappings.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
474
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
475 7. If alignment is requested, filter out an internal seed if it
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
476 potentially leads to both a long insertion and a long deletion.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
477 Extend from the left-most seed. Perform global alignments between
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
478 internal seeds. Split the chain if the accumulative score along the
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
479 global alignment drops by **-z** [=*400*], disregarding long gaps.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
480 Extend from the right-most seed. Output chains and their alignments.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
481
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
482 8. If there are more query sequences in the input, go to step 2 until no
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
483 more queries are left.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
484
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
485 9. If there are more reference sequences, reopen the query file from the
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
486 start and go to step 1; otherwise stop.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
487
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
488 Limitations
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
489 -----------
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
490
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
491 - Minimap2 may produce suboptimal alignments through long
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
492 low-complexity regions where seed positions may be suboptimal. This
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
493 should not be a big concern because even the optimal alignment may be
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
494 wrong in such regions.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
495
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
496 - Minimap2 requires SSE2 instructions to compile. It is possible to add
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
497 non-SSE2 support, but it would make minimap2 slower by several times.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
498
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
499 In general, minimap2 is a young project with most code written since
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
500 June, 2017. It may have bugs and room for improvements. Bug reports and
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
501 suggestions are warmly welcomed.
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
502 </help>
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
503 <citations>
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
504 <citation type="doi">10.1093/bioinformatics/btp324</citation>
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
505 <citation type="doi">10.1093/bioinformatics/btp698</citation>
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
506 <citation type="bibtex">@misc{1303.3997,
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
507 Author = {Heng Li},
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
508 Title = {Minimap2: fast pairwise alignment for long nucleotide sequences},
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
509 Year = {2017},
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
510 Eprint = {arXiv:1708.01492},
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
511 url = {https://arxiv.org/abs/1708.01492},
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
diff changeset
512 }</citation>
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
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513 </citations>
9b44afd426fd planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/minimap2 commit d467ba21d5a83a68e87625c9e9157b37eac03eda-dirty
iuc
parents:
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514 </tool>