Mercurial > repos > jjohnson > gmap
annotate gmap_build.xml @ 2:f6ba0f12cca2 draft
Untested work-in-progress GMAP wrappers v3.0.0, from JJ back in June 2013
author | peterjc |
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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"> |
0 | 2 <description>a database genome index for GMAP and GSNAP</description> |
3 <requirements> | |
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4 <requirement type="package" version="2013-05-09">gmap</requirement> |
0 | 5 </requirements> |
6 <version_string>gmap --version</version_string> | |
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7 <command interpreter="command"> /bin/bash $shscript > $output </command> |
0 | 8 <inputs> |
9 <!-- Name for this gmapdb --> | |
10 <param name="refname" type="text" label="Name you want to give this gmap database" help=""> | |
11 <validator type="empty_field" message="A database name is required."/> | |
12 </param> | |
13 <!-- Input data --> | |
14 <repeat name="inputs" title="Reference Sequence" min="1"> | |
15 <param name="input" type="data" format="fasta" label="reference sequence fasta" /> | |
16 </repeat> | |
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> |
0 | 27 </param> |
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28 |
0 | 29 <param name="cmetindex" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Create cmetindex to process reads from bisulfite-treated DNA"/> |
30 <param name="atoiindex" type="boolean" checked="true" truevalue="yes" falsevalue="no" label="Create atoiindex to process reads under RNA-editing tolerance"/> | |
31 <conditional name="splicesite"> | |
32 <param name="splice_source" type="select" label="Add splice and intron info from" > | |
33 <option value="none"></option> | |
34 <option value="refGeneTable">refGenes table from UCSC table browser</option> | |
35 <option value="gtf">GTF</option> | |
36 <option value="gff3">GFF3</option> | |
37 </param> | |
38 <when value="none"/> | |
39 <when value="refGeneTable"> | |
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" /> | |
41 <param name="col_skip" type="integer" value="1" label="Columns to skip before the id/name column (default 1)" | |
42 help="Note that alignment tracks in UCSC sometimes have an extra column on the left."> | |
43 <validator type="in_range" message="The number of colmumns to skip must >= 0." min="0."/> | |
44 </param> | |
45 | |
46 </when> | |
47 <when value="gtf"> | |
48 <param name="gtfGenes" type="data" format="gtf" optional="true" label="Genes as GTF" help="" /> | |
49 </when> | |
50 <when value="gff3"> | |
51 <param name="gff3Genes" type="data" format="gff3" optional="true" label="Genes in GFF3 format" help="" /> | |
52 </when> | |
53 </conditional> | |
54 <conditional name="dbsnp"> | |
55 <param name="snp_source" type="select" label="Add SNP info from" > | |
56 <option value="none"></option> | |
57 <option value="snpTable">UCSC SNP Table</option> | |
58 <option value="snpFile">GMAP SNP File</option> | |
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59 <option value="vcfFile">VCF File</option> |
0 | 60 </param> |
61 <when value="none"/> | |
62 <when value="snpTable"> | |
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" /> | |
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" /> | |
65 <param name="weight" type="select" label="Include SNPs with at least Confidence Level" help=""> | |
66 <option value="1" selected="true">1 (High)</option> | |
67 <option value="2">2 (Medium)</option> | |
68 <option value="3">3 (All)</option> | |
69 </param> | |
70 </when> | |
71 <when value="snpFile"> | |
72 <param name="snps" type="data" format="gmap_snps" optional="true" label="GMAP SNPs file" | |
73 help="Format (3 columns): | |
74 <br>>rs62211261 21:14379270 CG | |
75 <br>>rs62211262 21:14379281 CG | |
76 <br>Each line must start with a > character, then be followed by an | |
77 identifier (which may have duplicates). Then there should be the | |
78 chromosomal coordinate of the SNP. (Coordinates are all 1-based, so | |
79 the first character of a chromosome is number 1.) Finally, there | |
80 should be the two possible alleles: ( AC AG AT CG CT GT or AN CN GN TN) | |
81 <br>These alleles must correspond to the possible nucleotides on the plus strand of the genome. | |
82 If the one of these two letters does not match the allele in the reference | |
83 sequence, that SNP will be ignored in subsequent processing as a probable error. | |
84 The N stands for any other allele." /> | |
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 "VLD") or have a |
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94 submitter link-out ("SLO"). Otherwise, it excludes SNPs that are |
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95 individual genotypes ("GNO"). 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> |
0 | 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 |
0 | 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> |
0 | 113 <outputs> |
114 <!-- | |
115 <data format="txt" name="log" label="${tool.name} on ${on_string}: log"/> | |
116 --> | |
117 <data format="gmapdb" name="output" label="${tool.name} on ${on_string} gmapdb ${refname}" /> | |
118 </outputs> | |
119 <configfiles> | |
120 <configfile name="shscript"> | |
121 #!/bin/bash | |
122 #set $ds = chr(36) | |
123 #set $gt = chr(62) | |
124 #set $lt = chr(60) | |
125 #set $ad = chr(38) | |
126 ## #set $ref_files = '' | |
127 ## #for $i in $inputs: | |
128 ## #set $ref_files = $ref_files $i.input | |
129 ## #end for | |
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 |
0 | 135 #import os.path |
136 #set $gmapdb = $output.extra_files_path | |
137 #set $mapsdir = $os.path.join($os.path.join($gmapdb,str($refname)), str($refname) + '.maps') | |
138 mkdir -p $gmapdb | |
139 ## export GMAPDB required for cmetindex and atoiindex | |
140 export GMAPDB=$gmapdb | |
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141 #if $kmer: |
0 | 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# |
0 | 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 |
0 | 148 get-genome -D $gmapdb -d '?' | sed 's/^Available .*/gmap db: /' |
149 echo "kmers: " $kmer | |
150 #if $splicesite.splice_source == 'refGeneTable': | |
151 #if $splicesite.refGenes.__str__ != 'None': | |
152 cat $splicesite.refGenes | psl_splicesites -s $splicesite.col_skip | iit_store -o $os.path.join($mapsdir,'splicesites') | |
153 cat $splicesite.refGenes | psl_introns -s $splicesite.col_skip | iit_store -o $os.path.join($mapsdir,'introns') | |
154 #end if | |
155 #elif $splicesite.splice_source == 'gtf': | |
156 #if $splicesite.gtfGenes.__str__ != 'None': | |
157 cat $splicesite.gtfGenes | gtf_splicesites | iit_store -o $os.path.join($mapsdir,'splicesites') | |
158 cat $splicesite.gtfGenes | gtf_introns | iit_store -o $os.path.join($mapsdir,'introns') | |
159 #end if | |
160 #elif $splicesite.splice_source == 'gff3': | |
161 #if $splicesite.gff3Genes.__str__ != 'None': | |
162 cat $splicesite.gff3Genes | gff3_splicesites | iit_store -o $os.path.join($mapsdir,'splicesites') | |
163 cat $splicesite.gff3Genes | gff3_introns | iit_store -o $os.path.join($mapsdir,'introns') | |
164 #end if | |
165 #end if | |
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 | 184 #end if |
185 #if $cmetindex.__str__ == 'yes': | |
186 cmetindex -d $refname | |
187 echo "cmetindex" -d $refname | |
188 #end if | |
189 #if $atoiindex.__str__ == 'yes': | |
190 atoiindex -d $refname | |
191 echo "atoiindex" -d $refname | |
192 #end if | |
193 get-genome -D $gmapdb -d $refname -m '?' | sed 's/^Available maps .*/maps: /' | |
194 </configfile> | |
195 </configfiles> | |
196 | |
197 <tests> | |
198 </tests> | |
199 | |
200 <help> | |
201 | |
202 **GMAP Build** | |
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 | 205 |
206 You will want to read the README_ | |
207 | |
208 Publication_ citation: Thomas D. Wu, Colin K. Watanabe Bioinformatics 2005 21(9):1859-1875; doi:10.1093/bioinformatics/bti310 | |
209 | |
210 .. _GMAP: http://research-pub.gene.com/gmap/ | |
211 .. _GSNAP: http://research-pub.gene.com/gmap/ | |
212 .. _README: http://research-pub.gene.com/gmap/src/README | |
213 .. _Publication: http://bioinformatics.oxfordjournals.org/cgi/content/full/21/9/1859 | |
214 | |
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 | 339 </help> |
340 </tool> | |
341 |