annotate gmap_build.xml @ 2:f6ba0f12cca2 draft

Untested work-in-progress GMAP wrappers v3.0.0, from JJ back in June 2013
author peterjc
date Wed, 28 Sep 2016 10:43:44 -0400
parents 74391fc6e3f2
children 488e9d642566
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1 <tool id="gmap_build" name="GMAP Build" version="3.0.0">
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2 <description>a database genome index for GMAP and GSNAP</description>
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3 <requirements>
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4 <requirement type="package" version="2013-05-09">gmap</requirement>
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5 </requirements>
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6 <version_string>gmap --version</version_string>
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7 <command interpreter="command"> /bin/bash $shscript > $output </command>
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8 <inputs>
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9 <!-- Name for this gmapdb -->
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10 <param name="refname" type="text" label="Name you want to give this gmap database" help="">
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11 <validator type="empty_field" message="A database name is required."/>
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12 </param>
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13 <!-- Input data -->
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14 <repeat name="inputs" title="Reference Sequence" min="1">
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15 <param name="input" type="data" format="fasta" label="reference sequence fasta" />
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16 </repeat>
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17
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18 <param name="circular_chroms" type="text" value="" optional="true" label="Names of circular chromosomes"
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19 help="a list of chromosomes, separated by commas, allow GSNAP and GMAP to align reads across the ends of the chromosome">
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20 </param>
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21
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22 <param name="sort" type="select" label="Sort chromosomes" help="">
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23 <option value="none">none - use chromosomes as found in FASTA file(s)</option>
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24 <option value="alpha">alpha - sort chromosomes alphabetically (chr10 before chr 1)</option>
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25 <option value="numeric-alpha">numeric-alpha - chr1, chr1U, chr2, chrM, chrU, chrX, chrY</option>
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26 <option value="chrom">chrom - chr1, chr2, chrM, chrX, chrY, chr1U, chrU</option>
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27 </param>
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28
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29 <param name="cmetindex" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Create cmetindex to process reads from bisulfite-treated DNA"/>
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30 <param name="atoiindex" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Create atoiindex to process reads under RNA-editing tolerance"/>
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31 <conditional name="splicesite">
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32 <param name="splice_source" type="select" label="Add splice and intron info from" >
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33 <option value="none"></option>
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34 <option value="refGeneTable">refGenes table from UCSC table browser</option>
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35 <option value="gtf">GTF</option>
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36 <option value="gff3">GFF3</option>
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37 </param>
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38 <when value="none"/>
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39 <when value="refGeneTable">
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40 <param name="refGenes" type="data" format="tabular" optional="true" label="UCSC refGenes table" help="Example: ftp://hgdownload.cse.ucsc.edu/goldenPath/hg18/database/refGene.txt.gz" />
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41 <param name="col_skip" type="integer" value="1" label="Columns to skip before the id/name column (default 1)"
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42 help="Note that alignment tracks in UCSC sometimes have an extra column on the left.">
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43 <validator type="in_range" message="The number of colmumns to skip must >= 0." min="0."/>
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44 </param>
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45
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46 </when>
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47 <when value="gtf">
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48 <param name="gtfGenes" type="data" format="gtf" optional="true" label="Genes as GTF" help="" />
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49 </when>
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50 <when value="gff3">
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51 <param name="gff3Genes" type="data" format="gff3" optional="true" label="Genes in GFF3 format" help="" />
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52 </when>
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53 </conditional>
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54 <conditional name="dbsnp">
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55 <param name="snp_source" type="select" label="Add SNP info from" >
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56 <option value="none"></option>
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57 <option value="snpTable">UCSC SNP Table</option>
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58 <option value="snpFile">GMAP SNP File</option>
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59 <option value="vcfFile">VCF File</option>
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60 </param>
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61 <when value="none"/>
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62 <when value="snpTable">
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63 <param name="snps" type="data" format="tabular" optional="true" label="UCSC SNPs table" help="Example: ftp://hgdownload.cse.ucsc.edu/goldenPath/hg18/database/snp130.txt.gz" />
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64 <param name="snpsex" type="data" format="tabular" optional="true" label="UCSC SNP Exceptions table" help="Example: ftp://hgdownload.cse.ucsc.edu/goldenPath/hg18/database/snp130Exceptions.txt.gz" />
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65 <param name="weight" type="select" label="Include SNPs with at least Confidence Level" help="">
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66 <option value="1" selected="true">1 (High)</option>
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67 <option value="2">2 (Medium)</option>
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68 <option value="3">3 (All)</option>
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69 </param>
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70 </when>
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71 <when value="snpFile">
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72 <param name="snps" type="data" format="gmap_snps" optional="true" label="GMAP SNPs file"
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73 help="Format (3 columns):
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74 &lt;br&gt;>rs62211261 21:14379270 CG
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75 &lt;br&gt;>rs62211262 21:14379281 CG
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76 &lt;br&gt;Each line must start with a &gt; character, then be followed by an
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77 identifier (which may have duplicates). Then there should be the
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78 chromosomal coordinate of the SNP. (Coordinates are all 1-based, so
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79 the first character of a chromosome is number 1.) Finally, there
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80 should be the two possible alleles: ( AC AG AT CG CT GT or AN CN GN TN)
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81 &lt;br&gt;These alleles must correspond to the possible nucleotides on the plus strand of the genome.
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82 If the one of these two letters does not match the allele in the reference
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83 sequence, that SNP will be ignored in subsequent processing as a probable error.
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84 The N stands for any other allele." />
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85 </when>
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86 <when value="vcfFile">
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87 <param name="snps" type="data" format="vcf" optional="true" label="VCF SNPs file"
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88 help="Example: ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/VCF/00-All.vcf.gz
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89 The VCF file contains multiple versions of dbSNP, so if you want a
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90 particular version, such as 135. The vcf_iit program tries to pick
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91 a subset of SNPs that somewhat parallel
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92 the ones without exceptions in the UCSC dbSNP file. It keeps all SNPs
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93 that have been validated (marked in the VCF file as &#34;VLD&#34;) or have a
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94 submitter link-out (&#34;SLO&#34;). Otherwise, it excludes SNPs that are
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95 individual genotypes (&#34;GNO&#34;). If none of these conditions hold, then
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96 the SNP is allowed. "/>
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97 <param name="vcf_version" type="text" value="" optional="true" label="dbSNP version"
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98 help="The VCF file contains multiple versions of dbSNP, so if you want a particular version, such as 135"/>
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99 </when>
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100 </conditional>
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101
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102 <param name="kmer" type="select" multiple="true" force_select="true" label="kmer size" help="Use smaller values when building indexes on machines with limited RAM">
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103 <option value="12">12 (64MB RAM)</option>
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104 <option value="13">13 (256MB RAM)</option>
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105 <option value="14">14 (1GB RAM)</option>
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106 <option value="15" selected="true">15 (4GB RAM)</option>
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107 </param>
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108
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109 </inputs>
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110 <stdio>
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111 <exit_code range="1" level="fatal" description="Error running gmap_build" />
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112 </stdio>
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113 <outputs>
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114 <!--
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115 <data format="txt" name="log" label="${tool.name} on ${on_string}: log"/>
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116 -->
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117 <data format="gmapdb" name="output" label="${tool.name} on ${on_string} gmapdb ${refname}" />
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118 </outputs>
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119 <configfiles>
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120 <configfile name="shscript">
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121 #!/bin/bash
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122 #set $ds = chr(36)
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123 #set $gt = chr(62)
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124 #set $lt = chr(60)
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125 #set $ad = chr(38)
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126 ## #set $ref_files = ''
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127 ## #for $i in $inputs:
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128 ## #set $ref_files = $ref_files $i.input
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129 ## #end for
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130 ## echo $ref_files
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131 #set circular = ""
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132 #if $circular_chroms.__str__.strip() != '':
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133 #set circular = ('').join([' -c ','"', $circular_chroms.__str__,'"'])
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134 #end if
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135 #import os.path
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136 #set $gmapdb = $output.extra_files_path
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137 #set $mapsdir = $os.path.join($os.path.join($gmapdb,str($refname)), str($refname) + '.maps')
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138 mkdir -p $gmapdb
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139 ## export GMAPDB required for cmetindex and atoiindex
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140 export GMAPDB=$gmapdb
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141 #if $kmer:
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142 #for $k in $kmer.__str__.split(','):
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143 gmap_build -D $gmapdb -d $refname -s $sort $circular -k $k #for i in $inputs# ${i.input}#end for#
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144 #end for
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145 #else:
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146 gmap_build -D $gmapdb -d $refname -s $sort $circular #for i in $inputs# ${i.input}#end for#
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147 #end if
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148 get-genome -D $gmapdb -d '?' | sed 's/^Available .*/gmap db: /'
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149 echo "kmers: " $kmer
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150 #if $splicesite.splice_source == 'refGeneTable':
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151 #if $splicesite.refGenes.__str__ != 'None':
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152 cat $splicesite.refGenes | psl_splicesites -s $splicesite.col_skip | iit_store -o $os.path.join($mapsdir,'splicesites')
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153 cat $splicesite.refGenes | psl_introns -s $splicesite.col_skip | iit_store -o $os.path.join($mapsdir,'introns')
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154 #end if
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155 #elif $splicesite.splice_source == 'gtf':
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156 #if $splicesite.gtfGenes.__str__ != 'None':
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157 cat $splicesite.gtfGenes | gtf_splicesites | iit_store -o $os.path.join($mapsdir,'splicesites')
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158 cat $splicesite.gtfGenes | gtf_introns | iit_store -o $os.path.join($mapsdir,'introns')
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159 #end if
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160 #elif $splicesite.splice_source == 'gff3':
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161 #if $splicesite.gff3Genes.__str__ != 'None':
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162 cat $splicesite.gff3Genes | gff3_splicesites | iit_store -o $os.path.join($mapsdir,'splicesites')
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163 cat $splicesite.gff3Genes | gff3_introns | iit_store -o $os.path.join($mapsdir,'introns')
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164 #end if
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165 #end if
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166 #if $dbsnp.snp_source != 'none' and $dbsnp.snps.__str__ != 'None':
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167 #if $dbsnp.snp_source == 'snpTable':
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168 #if $dbsnp.snpsex.__str__ != 'None':
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169 cat $dbsnp.snps | dbsnp_iit -w $dbsnp.weight -e $dbsnp.snpsex | iit_store -o $os.path.join($mapsdir,'snps')
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170 #else:
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171 cat $dbsnp.snps | dbsnp_iit -w $dbsnp.weight | iit_store -o $os.path.join($mapsdir,'snps')
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172 #end if
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173 #elif $dbsnp.snp_source == 'vcfFile':
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174 #if $dbsnp.vcf_version and len($dbsnp.vcf_version.__str__.strip()) > 0:
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175 cat $dbsnp.snps | vcf_iit -v $dbsnp.vcf_version.__str__.strip() | iit_store -o $os.path.join($mapsdir,'snps')
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176 #else:
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177 cat $dbsnp.snps | vcf_iit | iit_store -o $os.path.join($mapsdir,'snps')
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178 #end if
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179 #else:
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180 cat $dbsnp.snps | iit_store -o $os.path.join($mapsdir,'snps')
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181 #end if
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182 snpindex -d $refname -v snps
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183 echo "snpindex" -d $refname -v snps
0
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184 #end if
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185 #if $cmetindex.__str__ == 'yes':
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186 cmetindex -d $refname
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187 echo "cmetindex" -d $refname
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188 #end if
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189 #if $atoiindex.__str__ == 'yes':
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190 atoiindex -d $refname
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191 echo "atoiindex" -d $refname
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192 #end if
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193 get-genome -D $gmapdb -d $refname -m '?' | sed 's/^Available maps .*/maps: /'
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194 </configfile>
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195 </configfiles>
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196
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197 <tests>
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198 </tests>
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199
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200 <help>
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201
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202 **GMAP Build**
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203
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204 GMAP Build creates an index of a genomic sequence for mapping and alignment using GMAP_ (Genomic Mapping and Alignment Program for mRNA and EST sequences) and GSNAP_ (Genomic Short-read Nucleotide Alignment Program). (GMAP Build uses GMAP commands: gmap_build, iit_store, psl_splicesites, psl_introns, gtf_splicesites, gtf_introns, gff3_splicesites, gff3_introns, dbsnp_iit, snpindex, cmetindex, and atoiindex.)
0
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205
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206 You will want to read the README_
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207
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208 Publication_ citation: Thomas D. Wu, Colin K. Watanabe Bioinformatics 2005 21(9):1859-1875; doi:10.1093/bioinformatics/bti310
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209
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210 .. _GMAP: http://research-pub.gene.com/gmap/
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211 .. _GSNAP: http://research-pub.gene.com/gmap/
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212 .. _README: http://research-pub.gene.com/gmap/src/README
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213 .. _Publication: http://bioinformatics.oxfordjournals.org/cgi/content/full/21/9/1859
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214
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215
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216 **circular chromosomes**
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217
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218 Finally, you can provide information to gmap_build that certain
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219 chromosomes are circular, with the -c or -\-circular flag. The value
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220 for these flags is a list of chromosomes, separated by commas. The
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221 gmap_build program will then allow GSNAP and GMAP to align reads
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222 across the ends of the chromosome. For example, the mitochondrial
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223 genome in human beings is circular.
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224
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225
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226 **Detecting known and novel splice sites in GSNAP**
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227
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228 GSNAP can detect splice junctions in individual reads.
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229 GSNAP allows for known splicing at two levels: at the level of known
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230 splice sites and at the level of known introns. At the site level,
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231 GSNAP finds splicing between arbitrary combinations of donor and
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232 acceptor splice sites, meaning that it can find alternative splicing
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233 events. At the intron level, GSNAP finds splicing only between the
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234 set of given donor-acceptor pairs, so it is constrained not to find
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235 alternative splicing events, only introns included in the given list.
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236 For most purposes, I would recommend using known splice sites, rather
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237 than known introns, unless you are certain that all alternative
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238 splicing events are known are represented in your file.
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239
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240 Splice site files can be generated from a GTF file
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241 or from refGenes table from UCSC.
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242
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243
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244 **SNP-tolerant alignment in GSNAP**
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245
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246 GSNAP has the ability to align to a reference space of all possible
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247 major and minor alleles in a set of known SNPs provided by the user.
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248
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249
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250 Process known SNP data, either from older dbSNP files or from newer
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251 files in VCF format. The older dbSNP files can be obtained from UCSC,
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252 either from the Galaxy UCSC table browser or downloaded:
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253
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254 ftp://hgdownload.cse.ucsc.edu/goldenPath/hg18/database/snp130.txt.gz
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255
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256 For versions before snp132, you may also want to exclude exceptions,
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257 which will require this file:
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258
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259 ftp://hgdownload.cse.ucsc.edu/goldenPath/hg18/database/snp130Exceptions.txt.gz
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260
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261 The option "-w weight" makes use of the dbSNP item weight, a value
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262 from 1 to 3, where lower weight means higher confidence. Items will
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263 be included if the item weight is the given value weight or less.
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264 The default value of -w is 1, which is the criterion UCSC uses to
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265 build its ambiguous version of the genome. To allow all item weights,
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266 specify "-w 3".
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267
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268 The more recent SNP data are provided in VCF format, and can be
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269 retrieved like this:
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270
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271 ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/VCF/00-All.vcf.gz
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272
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273 The VCF file contains multiple versions of dbSNP, so if you want a
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274 particular version, such as 135, you would use the flag "-v 135". The
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275 vcf_iit program tries to pick a subset of SNPs that somewhat parallel
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276 the ones without exceptions in the UCSC dbSNP file. It keeps all SNPs
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277 that have been validated (marked in the VCF file as "VLD") or have a
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278 submitter link-out ("SLO"). Otherwise, it excludes SNPs that are
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279 individual genotypes ("GNO"). If none of these conditions hold, then
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280 the SNP is allowed. These rules might not be the best ones; I made
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281 them up by trying to compare version 135 of the VCF data with
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282 version 135 of the UCSC dbSNP data.
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283
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284 **Alignment of reads from bisulfite-treated DNA in GSNAP**
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285
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286 GSNAP has the ability to align reads from bisulfite-treated DNA, which
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287 converts unmethylated cytosines to uracils that appear as thymines in
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288 reads. GSNAP is able to identify genomic-T to read-C mismatches,
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289 if a cmetindex is generated.
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290
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291 **RNA-editing tolerance in GSNAP**
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292
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293 Just as GSNAP has a program cmetindex and a mode called "cmet" for
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294 tolerance to C-to-T changes, it can be tolerant to A-to-G changes
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295 using the program atoiindex and a mode called "atoi". This mode is
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296 designed to facilitate alignments that are tolerant to RNA editing
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297 where A's are converted to I's, which appear as G's to a sequencer.
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298
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299 To process reads under RNA-editing tolerance, you will first need to
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300 create th atoi index.
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301
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302
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303
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304 **K-mer size**
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305
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306 You can control the k-mer size
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307 for the genomic index with the -k flag, which can range from 12 to 15.
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308 The default value for -k is 15, but this requires your machine to have
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309 4 GB of RAM to build the indices. If you do not have 4 GB of RAM,
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310 then you will need to reduce the value of -k or find another machine.
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311 Here are the RAM requirements for building various indices::
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312
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313 k-mer of 12: 64 MB
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314 k-mer of 13: 256 MB
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315 k-mer of 14: 1 GB
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316 k-mer of 15: 4 GB
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317
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318 These are the RAM requirements for building indices, but not to run
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319 the GMAP/GSNAP programs once the indices are built, because the
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320 genomic indices are compressed. For example, the genomic index for a
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321 k-mer of 15 gives a gammaptrs file of 64 MB and an offsetscomp file of
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322 about 350 MB, much smaller than the 4 GB that would otherwise be
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323 required. Therefore, you may want to build your genomic index on a
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324 computer with sufficient RAM, and distribute that index to be used by
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325 computers with less RAM.
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326
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327 The amount of compression can be controlled using the -b or -\-basesize
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328 parameter to gmap_build. By default, the value for k-mer size is 15,
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329 and the value for basesize is 12. If you select a different value for
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330 k-mer size, then basesize is made by default to be equal to that k-mer
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331 size.
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332
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333 If you want to build your genomic databases with more than one k-mer
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334 size, you can re-run gmap_build with different values of -k. This
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335 will overwrite only the identical files from the previous runs. You
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336 can then choose the k-mer size at run-time by using the -k flag for
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337 either GMAP or GSNAP.
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338
0
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339 </help>
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340 </tool>
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341