annotate kggseq_variant_selection.xml @ 8:eebc0adefae0 draft

Updates to KGGSeq 1.0_20180410
author crs4
date Mon, 11 Jun 2018 12:41:24 -0400
parents dc45e612bc47
children
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1 <tool id="kggseq_variant_selection" name="Variant selection with KGGSeq" version="1.5">
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2 <description></description>
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3 <requirements>
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4 <requirement type="package" version="1.0_20180410">kggseq</requirement>
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5 </requirements>
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6 <command>
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7 java -jar \$KGGSEQ_JAR_PATH/kggseq.jar
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8 ## Environmental settings
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9 --buildver hg19
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10 --resource \$KGGSEQ_JAR_PATH/resources
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11 --no-lib-check
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12 --no-resource-check
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13 --no-progress-check
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14 --out results
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15 --o-vcf
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16 --no-gz
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17
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18 --vcf-file $inputFile
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19 --ped-file $pedFile
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20 --db-gene $db_gene
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21 $composite_subject_id
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22
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23 ## Variant and genotype filters
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24 #if str($variant_genotype_filters.variant_genotype_filters_select) == "yes"
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25 $variant_genotype_filters.pass_variant_only
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26 --seq-qual $variant_genotype_filters.seq_qual
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27 --seq-mq $variant_genotype_filters.seq_mq
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28 --seq-sb $variant_genotype_filters.seq_sb
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29 --seq-fs $variant_genotype_filters.seq_fs
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30 --min-heta $variant_genotype_filters.min_heta
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31 --min-homa $variant_genotype_filters.min_homa
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32 --min-hetu $variant_genotype_filters.min_hetu
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33 --min-homu $variant_genotype_filters.min_homu
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34 --min-obsa $variant_genotype_filters.min_obsa
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35 --min-obsu $variant_genotype_filters.min_obsu
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36 --min-obs $variant_genotype_filters.min_obs
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37 #if str($variant_genotype_filters.hwe_control)
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38 --hwe-control $variant_genotype_filters.hwe_control
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39 #end if
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40 #if str($variant_genotype_filters.hwe_case)
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41 --hwe-case $variant_genotype_filters.hwe_case
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42 #end if
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43 #if str($variant_genotype_filters.hwe_all)
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44 --hwe-all $variant_genotype_filters.hwe_all
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45 #end if
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46 --gty-qual $variant_genotype_filters.gty_qual
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47 --gty-dp $variant_genotype_filters.gty_dp
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48 --gty-sec-pl $variant_genotype_filters.gty_sec_pl
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49 --gty-af-ref $variant_genotype_filters.gty_af_ref
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50 --gty-af-het $variant_genotype_filters.gty_af_het
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51 --gty-af-alt $variant_genotype_filters.gty_af_alt
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52 #else
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53 --no-qc
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54 #end if
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55
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56 ## Genetic inheritance
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57 #if str($genetic_filters.genetic_filters_select) == "yes"
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58 #if str($genetic_filters.genetic_model.genetic_model_select) == "yes"
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59 #if $genetic_filters.genetic_model.custom_genetic_params
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60 --genotype-filter $genetic_filters.genetic_model.custom_genetic_params
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61 #end if
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62 #else
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63 $genetic_filters.genetic_model.suggested_genetic_params
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64 #end if
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65 #end if
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66
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67 ## Homozygosity - IBS - IBD filters
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68 #if str($hom_ibs_ibd_filters.hom_ibs_ibd_filters_select) == "yes"
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69 #if str($hom_ibs_ibd_filters.homozygosity_case_filter)
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70 --homozygosity-case-filter $hom_ibs_ibd_filters.homozygosity_case_filter
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71 #end if
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72 #if str($hom_ibs_ibd_filters.ibs_case_filter)
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73 --ibs-case-filter $hom_ibs_ibd_filters.ibs_case_filter
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74 #end if
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75 #if str($hom_ibs_ibd_filters.ibd_annot) != 'None'
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76 --ibd-annot $hom_ibs_ibd_filters.ibd_annot
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77 #end if
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78 #end if
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79
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80 ## Gene feature filters
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81 #if str($gene_feature_filters.gene_feature_filters_select) == "yes" and $gene_feature_filters.gene_features
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82 --gene-feature-in $gene_feature_filters.gene_features
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83 --splicing $gene_feature_filters.splicing
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84 --neargene $gene_feature_filters.neargene
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85 #end if
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86
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87 ## Common variants filters
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88 #if str($allele_freq_filters.allele_freq_filters_select) == "yes"
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89 #if $allele_freq_filters.allele_freq_db
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90 --db-filter $allele_freq_filters.allele_freq_db
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91 #end if
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92 --rare-allele-freq $allele_freq_filters.rare_allele_freq
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93 #end if
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94
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95 ## Genomic regions filters
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96 #if str($genomic_region_filters.genomic_region_filters_select) == "yes"
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97 $genomic_region_filters.ignore_indel_or_snv
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98 #if $genomic_region_filters.regions_in
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99 --regions-in "$genomic_region_filters.regions_in"
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100 #end if
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101 #if $genomic_region_filters.regions_out
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102 --regions-out "$genomic_region_filters.regions_out"
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103 #end if
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104 #if $genomic_region_filters.genes_in
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105 --genes-in "$genomic_region_filters.genes_in"
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106 #end if
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107 #if $genomic_region_filters.genes_out
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108 --genes-out "$genomic_region_filters.genes_out"
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109 #end if
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110 $genomic_region_filters.superdup
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111 #if str($genomic_region_filters.gene_var_filter)
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112 --gene-var-filter $genomic_region_filters.gene_var_filter
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113 #end if
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114 #end if
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115
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116 ## Predicted impact filters
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117 #if str($impact_filters.impact_filters_select) == "yes"
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118 --db-score dbnsfp
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119 $impact_filters.filter_nondisease_variant
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120 $impact_filters.mendel_causing
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121 #end if
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122
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123 ## Add annotations
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124 #if str($add_annotations.add_annotations_select) == "yes"
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125 #if str($add_annotations.o_flanking_seq)
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126 --o-flanking-seq $add_annotations.o_flanking_seq
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127 #end if
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128 $add_annotations.genome_annotation
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129 $add_annotations.omim_annotation
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130 $add_annotations.cosmic_annotation
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131 $add_annotations.scsnv_annotation
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132 $add_annotations.dgv_cnv_annotation
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133 $add_annotations.superdup_annotation
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134 $add_annotations.mouse_pheno_annotation
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135 $add_annotations.zebrafish_pheno_annotation
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136 $add_annotations.ddd_annotation
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137 $add_annotations.patho_gene_predict_annotation
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138 #if $add_annotations.pubmed_mining_gene
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139 --phenotype-term "$add_annotations.pubmed_mining_gene" --pubmed-mining
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140 #end if
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141 #if str($add_annotations.shared_genes.shared_genes_select) == "yes"
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142 --ppi-annot string
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143 --candi-file $add_annotations.shared_genes.candi_file
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144 --ppi-depth $add_annotations.shared_genes.ppi_depth
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145 --pathway-annot $add_annotations.shared_genes.pathway_annot
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146 #end if
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147 #end if
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148 &gt; $logFile
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149 </command>
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150 <inputs>
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151 <param name="inputFile" type="data" format="vcf" label="VCF Variant file (--vcf-file)" help="Coordinates must refer to hg19" />
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152 <param name="pedFile" type="data" format="tabular" label="Pedigree (--ped-file)" />
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153 <param name="composite_subject_id" type="boolean" truevalue="--composite-subject-id" falsevalue="" checked="false" label="Composite subject ID (--composite-subject-id)" />
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154 <param name="db_gene" type="select" display="checkboxes" multiple="true" label="Database(s) to annotate and filter variants (--db-gene)">
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155 <option value="refgene" selected="true">refgene: The RefGene database compiled by UCSC from hg19 refGene. Note: RefSeq has NO mitochondria gene definition</option>
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156 <option value="gencode">gencode: The GENCODE gene sets. Note: GENCODE contains similar number of coding genes but more transcripts than RefGene. It HAS the mitochondria gene definition</option>
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157 <option value="knowngene">knowngene: The UCSC knonwGene datasase compiled by UCSC from hg19 knownGene</option>
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158 <option value="ensembl">ensembl: The Ensembl gene datasase compiled by UCSC from hg19 ensGene</option>
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159 <validator type="no_options" message="Select at least one database" />
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160 </param>
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161
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162 <!-- Variant and genotype quality control -->
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163 <conditional name="variant_genotype_filters">
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164 <param name="variant_genotype_filters_select" type="select" label="Specify variant and genotype quality filters?">
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165 <option value="yes">Yes</option>
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166 <option value="no" selected="true">No</option>
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167 </param>
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168 <when value="yes">
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169 <param name="pass_variant_only" type="boolean" truevalue="--vcf-filter-in PASS" falsevalue="" checked="true" label="Don't include filtered loci (--vcf-filter-in PASS)" help="Keep only variants with FILTER equal to PASS" />
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170 <param name="seq_qual" type="integer" value="50" label="Minimum overall Phred-scaled sequencing quality score for the variant (--seq-qual)" />
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171 <param name="seq_mq" type="integer" value="20" label="Minimum overall Phred-scaled mapping quality score for the variant (--seq-mq)" />
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172 <param name="seq_sb" type="float" value="-10" label="Maximal overall strand bias score for the variant (--seq-sb)" />
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173 <param name="seq_fs" type="integer" value="60" label="Maximal overall strand bias Phred-scaled p-value (using Fisher's exact test) for the variant (--seq-fs)" />
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174 <param name="min_heta" type="integer" value="0" label="Minimal observed number of heterozygote genotypes in cases (the affected) (--min-heta)" />
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175 <param name="min_homa" type="integer" value="0" label="Minimal observed number of alternate homozygote genotypes in cases (the affected) (--min-homa)" />
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176 <param name="min_hetu" type="integer" value="0" label="Minimal observed number of heterozygote genotypes in controls (the unaffected) (--min-hetu)" />
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177 <param name="min_homu" type="integer" value="0" label="Minimal observed number of alternate homozygote genotypes in controls (the unaffected) (--min-homu)" />
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178 <param name="min_obsa" type="integer" value="0" label="Minimal observed number of non-missing genotypes in cases (the affected) (--min-obsa)" />
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179 <param name="min_obsu" type="integer" value="0" label="Minimal observed number of non-missing genotypes in controls (the unaffected) (--min-obsu)" />
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180 <param name="min_obs" type="integer" value="1" label="Minimal observed number of non-missing genotypes in all samples (--min-obs)" />
0
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181 <param name="hwe_control" type="float" value="" optional="true" label="Exclude variants in controls with the Hardy-Weinberg test p-value &lt;= this value (--hwe-control)" />
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182 <param name="hwe_case" type="float" value="" optional="true" label="Exclude variants in cases with the Hardy-Weinberg test p-value &lt;= this value (--hwe-case)" />
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183 <param name="hwe_all" type="float" value="" optional="true" label="Exclude variants in all subjects with the Hardy-Weinberg test p-value &lt;= this value (--hwe-all)" />
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184 <param name="gty_qual" type="integer" value="10" label="Minimum Phred-scaled genotyping quality (--gty-qual)" />
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185 <param name="gty_dp" type="integer" value="4" label="Minimal read depth per genotype (--gty-dp)" />
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186 <param name="gty_sec_pl" type="integer" value="20" label="Minimal value for second smallest normalized Phred-scaled genotype quality (--gty-sec-pl)" />
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187 <param name="gty_af_ref" type="float" value="0.05" label="Maximal fraction of reads carrying alternative allele at a reference allele homozygous genotype (--gty-af-ref)" />
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188 <param name="gty_af_het" type="float" value="0.25" label="Minimal fraction of reads carrying alternative allele at a heterozygous genotype (--gty-af-het)" />
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189 <param name="gty_af_alt" type="float" value="0.5" label="Minimal fraction of reads carrying alternative allele at a alternative allele homozygous genotype (--gty-af-alt)" />
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190 </when>
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191 <when value="no" />
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192 </conditional>
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193
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194 <!-- Genetic inheritance -->
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195 <conditional name="genetic_filters">
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196 <param name="genetic_filters_select" type="select" label="Specify genetic inheritance?">
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197 <option value="yes">Yes</option>
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198 <option value="no" selected="true">No</option>
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199 </param>
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200 <when value="yes">
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201 <conditional name="genetic_model">
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202 <param name="genetic_model_select" type="select" label="Specify advanced settings for genetic inheritance?">
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203 <option value="yes">Yes</option>
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204 <option value="no" selected="true">No</option>
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205 </param>
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206 <!-- Custom genetic filters -->
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207 <when value="yes">
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208 <param name="custom_genetic_params" type="select" display="checkboxes" multiple="true" label="Select genetic inheritance (advanced) (--genotype-filter)" help="Multiple filtration codes have logical OR relationship">
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209 <option value="1">Exclude variants at which affected subjects have heterozygous genotypes (1)</option>
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210 <option value="2">Exclude variants at which both affected and unaffected subjects have the same homozygous genotypes (2)</option>
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211 <option value="3">Exclude variants at which affected subjects have reference homozygous genotypes (3)</option>
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212 <option value="4">Exclude variants at which both affected and unaffected subjects have the same heterozygous genotypes (4)</option>
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213 <option value="5">Exclude variants at which affected subjects have alternative homozygous genotypes (5)</option>
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214 <option value="6">Exclude variants at which affected family members have NO shared alleles (6)</option>
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215 <option value="7">ONLY include variants at which an offspring has one or two non-inherited alleles (7)</option>
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216 </param>
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217 </when>
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218 <!-- Suggested genetic filters -->
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219 <when value="no">
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220 <param name="suggested_genetic_params" type="select" display="radio" label="Select genetic inheritance">
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221 <option value="--genotype-filter 1,2,3">Recessive (--genotype-filter 1,2,3)</option>
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222 <option value="--double-hit-gene-trio-filter" selected="true">Recessive and compound-heterozygous (--double-hit-gene-trio-filter)</option>
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223 <option value="--double-hit-gene-phased-filter">Recessive and compound-heterozygous with phased samples (--double-hit-gene-phased-filter)</option>
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224 <option value="--genotype-filter 2,3,4,5">Dominant (--genotype-filter 2,3,4,5)</option>
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225 <option value="--genotype-filter 7">De novo mutation (--genotype-filter 7)</option>
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226 <option value="--unique-gene-filter">Only genes on which EVERY affected subject has at least one case-unique alternative allele, but these alleles may be from different variants (--unique-gene-filter)</option>
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227 </param>
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228 </when>
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229 </conditional>
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230 </when>
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231 <when value="no" />
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232 </conditional>
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233
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234 <!-- Homozygosity filtering -->
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235 <conditional name="hom_ibs_ibd_filters">
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236 <param name="hom_ibs_ibd_filters_select" type="select" label="Specify homozygosity filters?">
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237 <option value="yes">Yes</option>
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238 <option value="no" selected="true">No</option>
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239 </param>
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240 <when value="yes">
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241 <param name="homozygosity_case_filter" type="integer" value="" optional="true" label="Filter by Runs of Homozygosity (ROH) (--homozygosity-case-filter)" help="Minimal length (in kb) of consecutive homozygous genotype for each interesting variant" />
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242 <param name="ibs_case_filter" type="integer" value="" optional="true" label="Filter by Identical by State (IBS) (--ibs-case-filter)" help="Minimal length (in kb) of the region in which there is at least one allele identical among all cases" />
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243 <param name="ibd_annot" type="data" format="txt,tabular,bed" optional="true" label="Add Identical by Descent (IBD) annotation (--ibd-annot)" help="File with IBD or significant linkage regions. Variants within these regions will be highlighted. Note: title line CHR START END is needed" />
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244 </when>
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245 <when value="no" />
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246 </conditional>
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247
0
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248 <!-- Gene feature filtering -->
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249 <conditional name="gene_feature_filters">
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250 <param name="gene_feature_filters_select" type="select" label="Specify gene feature filters?">
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251 <option value="yes">Yes</option>
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252 <option value="no" selected="true">No</option>
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253 </param>
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254 <when value="yes">
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255 <param name="gene_features" type="select" display="checkboxes" multiple="true" label="Select gene features (--gene-feature-in)" help="Variants falling outside the selected regions will be excluded">
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256 <option value="0" selected="true">Frame-shift</option>
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257 <option value="1" selected="true">Loss of amino acids</option>
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258 <option value="2" selected="true">Loss of start codon</option>
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259 <option value="3" selected="true">Loss of stop codon (TAG, TAA, TGA)</option>
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260 <option value="4" selected="true">Gain of stop codon (TAG, TAA, TGA)</option>
0
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261 <option value="5" selected="true">Splicing</option>
3
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parents: 2
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262 <option value="6" selected="true">Missense</option>
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parents: 2
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263 <option value="7">Synonymous</option>
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264 <option value="8">Exonic</option>
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265 <option value="9">5-UTR</option>
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266 <option value="10">3-UTR</option>
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parents: 2
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267 <option value="11">Intronic</option>
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parents: 2
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268 <option value="12">Upstream of transcription start site</option>
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parents: 2
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269 <option value="13">Downstream of transcription end site</option>
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270 <option value="14">ncRNA</option>
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271 <option value="15">Intergenic</option>
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272 <option value="16">Monomorphic</option>
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273 <option value="17">Unknown</option>
0
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274 </param>
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275 <param name="splicing" type="integer" value="2" label="Window size in base-pair around the splicing junction to flag the variant as splicing (--splicing)" />
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276 <param name="neargene" type="integer" value="1000" label="Size in base-pair of region upstream and downstream (--neargene)" />
0
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277 </when>
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278 <when value="no" />
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279 </conditional>
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280
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281 <!-- Allele frequency filtering -->
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282 <conditional name="allele_freq_filters">
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283 <param name="allele_freq_filters_select" type="select" label="Specify filters by allele frequency?">
0
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284 <option value="yes">Yes</option>
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285 <option value="no" selected="true">No</option>
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286 </param>
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287 <when value="yes">
4
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288 <param name="allele_freq_db" type="select" display="checkboxes" multiple="true" label="Select databases for allelic frequency filtering (--db-filter)">
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parents: 3
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289 <option value="1kgeur201305">1KG EUR 201305: 495 subjects in the EUR panel of 1000 Genomes Project release in 2013 May (around 24.0 million sequence variants)</option>
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parents: 3
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290 <option value="1kgeas201305">1KG EAS 201305: 496 subjects in the EAS panel of 1000 Genomes Project release in 2013 May (around 23.5 million sequence variants)</option>
a13b8ff61c6c planemo upload
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parents: 3
diff changeset
291 <option value="1kgafr201305">1KG AFR 201305: 645 subjects in the AFR panel of 1000 Genomes Project release in 2013 May (around 41.7 million sequence variants)</option>
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parents: 3
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292 <option value="1kgsas201305">1KG SAS 201305: 485 subjects in the SAS panel of 1000 Genomes Project release in 2013 May (around 26.7 million sequence variants)</option>
a13b8ff61c6c planemo upload
crs4
parents: 3
diff changeset
293 <option value="1kgamr201305">1KG AMR 201305: 346 subjects in the AMR panel of 1000 Genomes Project release in 2013 May (around 28.2 million sequence variants)</option>
1
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294 <option value="1kg201305" selected="true">1KG 201305: 1000 Genomes Project 2013 May release</option>
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295 <option value="1kg201204">1KG 201204: 1000 Genomes Project 2012 April release</option>
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296 <option value="1kgafr201204">1KG 201204 AFR: 1000 Genomes Project 2012 April release - African</option>
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parents: 0
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297 <option value="1kgeur201204">1KG 201204 EUR: 1000 Genomes Project 2012 April release - European</option>
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parents: 0
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298 <option value="1kgamr201204">1KG 201204 AMR: 1000 Genomes Project 2012 April release - Mixed American</option>
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parents: 0
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299 <option value="1kgasn201204">1KG 201204 ASN: 1000 Genomes Project 2012 April release - Asian</option>
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parents: 0
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300 <option value="ESP6500AA" selected="true">ESP6500AA: African American dataset from NHLBI GO Exome Sequencing Project (ESP6500)</option>
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parents: 0
diff changeset
301 <option value="ESP6500EA" selected="true">ESP6500EA: European American dataset from NHLBI GO Exome Sequencing Project (ESP6500)</option>
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302 <option value="dbsnp141" selected="true">dnSNP 141</option>
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parents: 0
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303 <option value="dbsnp138">dbSNP 138</option>
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304 <option value="dbsnp138nf">dbSNP 138nf: dbSNP version 138 without the flagged SNPs by UCSC. Flagged SNPs include SNPs clinically associated by dbSNP, mapped to a single location in the reference genome assembly, and not known to have a minor allele frequency of at least 1%</option>
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305 <option value="dbsnp137">dbSNP 137</option>
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306 <option value="dbsnp135">dbSNP 135</option>
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307 <option value="exac">Exome Aggregation Consortium (ExAC): Variants from 61,486 unrelated individuals sequenced as part of various disease-specific and population genetic studies</option>
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parents: 4
diff changeset
308 <option value="gadexome">Genome Aggregation Database - Exome (gnomAD): Variants from 123,136 exomes sequenced as part of various disease-specific and population genetic studies</option>
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parents: 4
diff changeset
309 <option value="gadgenome">Genome Aggregation Database - Genome (gnomAD): Variants from 15,496 whole-genomes sequenced as part of various disease-specific and population genetic studies</option>
0
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310 </param>
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311 <param name="rare_allele_freq" type="float" value="0.01" label="Minor allele frequency (MAF) for selecting rare variants (--rare-allele-freq)" help="Set to &gt;1 to only annotate MAF, without filtering" />
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312 </when>
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313 <when value="no" />
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314 </conditional>
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315
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316 <!-- Variant type, region and gene filtering -->
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317 <conditional name="genomic_region_filters">
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318 <param name="genomic_region_filters_select" type="select" label="Specify variant type, region and gene filtering?">
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319 <option value="yes">Yes</option>
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parents:
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320 <option value="no" selected="true">No</option>
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parents:
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321 </param>
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322 <when value="yes">
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323 <param name="ignore_indel_or_snv" type="select" label="Ignore indels or SNVs?">
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324 <option value="" selected="true">No</option>
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325 <option value="--ignore-indel">Ignore insertion and deletion sequence variants (indels) (--ignore-indel)</option>
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326 <option value="--ignore-snv">Ignore single nucleotide variants (SNVs) (--ignore-snv)</option>
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327 </param>
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328 <param name="regions_in" type="text" label="Keep only variants within some genomic regions (--regions-in)" help="A comma-separated list of genomic regions, e.g. chrX,chrY:1-1000" />
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329 <param name="regions_out" type="text" label="Ignore variants within some genomic regions (--regions-out)" help="A comma-separated list of genomic regions, e.g. chrX,chrY:1-1000" />
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330 <param name="genes_in" type="text" label="Keep only variants within some genes (--genes-in)" help="A comma-separated list of gene symbols, e.g. TCF4,CNNM2,ANK3" />
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331 <param name="genes_out" type="text" label="Ignore variants within some genes (--genes-out)" help="A comma-separated list of gene symbols, e.g. TCF4,CNNM2,ANK3" />
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332 <param name="superdup" type="select" label="Annotate or filter out variants in super duplicate regions?" help="As defined in genomicSuperDups dataset from UCSC">
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333 <option value="" selected="true">No</option>
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334 <option value="--superdup-annot">Annotate variants in super duplicate regions (--superdup-annot)</option>
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335 <option value="--superdup-filter">Filter out variants in super duplicate regions (--superdup-filter)</option>
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336 </param>
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337 <param name="gene_var_filter" type="integer" value="" optional="true" label="Filter out genes with at least this number of putative pathogenic variants (--gene-var-filter)" help="As a rule of thumb, it is safe to set a cutoff of 4 or more. " />
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338 </when>
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339 <when value="no" />
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340 </conditional>
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341
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342 <!-- Predicted impact filtering -->
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343 <conditional name="impact_filters">
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344 <param name="impact_filters_select" type="select" label="Specify functional impact filters?">
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345 <option value="yes">Yes</option>
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346 <option value="no" selected="true">No</option>
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347 </param>
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348 <when value="yes">
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e9758eee6697 Update to KggSeq v0.7_20150118
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349 <param name="filter_nondisease_variant" type="boolean" truevalue="--filter-nondisease-variant" falsevalue="" checked="false" label="Filter out variants predicted to be non-disease causal (--filter-nondisease-variant)" />
7
dc45e612bc47 Updates to KGGSeq 1.0_20180410
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350 <param name="mendel_causing" type="boolean" truevalue="--mendel-causing-predict best" falsevalue="" checked="true" label="Predict Mendelian disease-causing variants by logistic regression model (--mendel-causing-predict)" />
0
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351 </when>
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352 <when value="no" />
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353 </conditional>
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354
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355 <!-- Annotations -->
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356 <conditional name="add_annotations">
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357 <param name="add_annotations_select" type="select" label="Add annotations?">
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358 <option value="yes">Yes</option>
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359 <option value="no" selected="true">No</option>
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360 </param>
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361 <when value="yes">
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362 <param name="o_flanking_seq" type="integer" value="" optional="true" label="Size in bp of flanking sequence to extract (--o-flanking-seq)" />
0
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363 <param name="genome_annotation" type="boolean" truevalue="--genome-annot" falsevalue="" checked="true" label="Add genomic functional annotations (presudogenes, TFBS, enhancer, UniProt) (--genome-annot)" />
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364 <param name="omim_annotation" type="boolean" truevalue="--omim-annot" falsevalue="" checked="true" label="Add OMIM annotation (--omim-annot)" />
4
a13b8ff61c6c planemo upload
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365 <param name="cosmic_annotation" type="boolean" truevalue="--cosmic-annot" falsevalue="" checked="true" label="Add COSMIC annotation (--cosmic-annot)" />
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366 <param name="scsnv_annotation" type="boolean" truevalue="--scsnv-annot" falsevalue="" checked="true" label="Potential of altering splicing (--scsnv-annot)" />
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367 <param name="dgv_cnv_annotation" type="boolean" truevalue="--dgv-cnv-annot" falsevalue="" checked="true" label="Map a variant against known structure variation (--dgv-cnv-annot)" />
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368 <param name="superdup_annotation" type="boolean" truevalue="--superdup-annot" falsevalue="" checked="true" label="Mark the variants in the super duplicate regions (--superdup-annot)" />
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369 <param name="mouse_pheno_annotation" type="boolean" truevalue="--mouse-pheno" falsevalue="" checked="true" label="Annotate the genes with known mouse phenotypes as reference (--mouse-pheno)" />
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370 <param name="zebrafish_pheno_annotation" type="boolean" truevalue="--zebrafish-pheno" falsevalue="" checked="true" label="Annotate the genes with known zebrafish phenotypes as reference (--zebrafish-pheno)" />
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371 <param name="ddd_annotation" type="boolean" truevalue="--ddd-annot" falsevalue="" checked="true" label="Annotate by disease names in Deciphering Developmental Disorders (DDD) study (--ddd-annot)" />
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372 <param name="patho_gene_predict_annotation" type="boolean" truevalue="--patho-gene-predict" falsevalue="" checked="true" label="Predict genes’ pathogenicity (--patho-gene-predict)" />
0
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373 <param name="pubmed_mining_gene" type="text" label="Text mining in PubMed: search term(s) of interest (e.g. disease name)" help="A comma-separated list of search terms, each composed by plus-separated words, e.g. spinocerebellar+ataxia,other+search+term. If empty, no search will be performed" />
4
a13b8ff61c6c planemo upload
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diff changeset
374 <!-- Shared protein-protein interactions and pathways -->
0
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375 <conditional name="shared_genes">
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376 <param name="shared_genes_select" type="select" label="Add annotations for shared interactions/pathways?">
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377 <option value="yes">Yes</option>
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378 <option value="no" selected="true">No</option>
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379 </param>
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380 <when value="yes">
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381 <param name="candi_file" type="data" format="txt,tabular" label="List of candidate genes of interest (--candi-file)" />
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382 <param name="ppi_depth" type="integer" value="1" label="Maximum distance of a protein-protein interaction (PPI) between candidate genes and genes containing the variants (--ppi-depth)" />
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383 <param name="pathway_annot" type="select" label="Select databases for the identification of shared pathways between candidate genes and genes containing the variants (--pathway-annot)" help="Gene sets are extracted from MSigDB">
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384 <option value="cura" selected="true">Curated gene sets (4850)</option>
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385 <option value="cano">Canonical pathways (1452)</option>
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386 <option value="onco">Oncogenic signatures (189)</option>
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387 <option value="cmop">Computational gene sets (858)</option>
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388 <option value="onto">Gene Ontology gene sets (1454)</option>
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389 </param>
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390 </when>
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391 <when value="no" />
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392 </conditional>
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393 </when>
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394 <when value="no" />
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395 </conditional>
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396 </inputs>
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397 <outputs>
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398 <data name="outVcf" format="vcf" label="${tool.name} on ${on_string}: VCF" from_work_dir="results.flt.vcf" />
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399 <data name="outTabular" format="tabular" label="${tool.name} on ${on_string}: tabular" from_work_dir="results.flt.txt" />
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400 <data name="outDoubleHitTriosGty" format="tabular" label="${tool.name} on ${on_string}: double-hit genotypes" from_work_dir="results.doublehit.gene.trios.flt.gty.txt">
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401 <filter>genetic_filters['genetic_filters_select'] == "yes" and genetic_filters['genetic_model']['genetic_model_select'] == "no" and genetic_filters['genetic_model']['suggested_genetic_params'] == "--double-hit-gene-trio-filter"</filter>
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402 </data>
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403 <data name="outDoubleHitTriosCount" format="tabular" label="${tool.name} on ${on_string}: double-hit counts" from_work_dir="results.doublehit.gene.trios.flt.count.txt">
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404 <filter>genetic_filters['genetic_filters_select'] == "yes" and genetic_filters['genetic_model']['genetic_model_select'] == "no" and genetic_filters['genetic_model']['suggested_genetic_params'] == "--double-hit-gene-trio-filter"</filter>
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405 </data>
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406 <data name="outDoubleHitPhasedGty" format="tabular" label="${tool.name} on ${on_string}: double-hit phased genotypes" from_work_dir="results.doublehit.gene.phased.flt.gty.txt">
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407 <filter>genetic_filters['genetic_filters_select'] == "yes" and genetic_filters['genetic_model']['genetic_model_select'] == "no" and genetic_filters['genetic_model']['suggested_genetic_params'] == "--double-hit-gene-phased-filter"</filter>
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408 </data>
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409 <data name="outDoubleHitPhasedCount" format="tabular" label="${tool.name} on ${on_string}: double-hit phased counts" from_work_dir="results.doublehit.gene.phased.flt.count.txt">
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410 <filter>genetic_filters['genetic_filters_select'] == "yes" and genetic_filters['genetic_model']['genetic_model_select'] == "no" and genetic_filters['genetic_model']['suggested_genetic_params'] == "--double-hit-gene-phased-filter"</filter>
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411 </data>
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412 <data name="logFile" format="txt" label="${tool.name} on ${on_string}: log" />
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413 </outputs>
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414 <help>
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415 **What it does**
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416
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417 This tool uses `KGGSeq`_ to filter and prioritize genetic variants from sequencing data.
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418
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419 **License and citation**
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420
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421 This Galaxy tool is Copyright © 2013-2014 `CRS4 Srl.`_ and is released under the `MIT license`_.
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422
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423 .. _CRS4 Srl.: http://www.crs4.it/
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424 .. _MIT license: http://opensource.org/licenses/MIT
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425
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426 You can use this tool only if you agree to the license terms of: `KGGSeq`_.
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427
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428 .. _KGGSeq: http://statgenpro.psychiatry.hku.hk/limx/kggseq/
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429
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430 If you use this tool, please cite:
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431
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432 - |Cuccuru2014|_
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433 - |Li2012|_
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434 - |Li2013|_.
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435
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436 .. |Cuccuru2014| replace:: Cuccuru, G., Orsini, M., Pinna, A., Sbardellati, A., Soranzo, N., Travaglione, A., Uva, P., Zanetti, G., Fotia, G. (2014) Orione, a web-based framework for NGS analysis in microbiology. *Bioinformatics* 30(13), 1928-1929
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437 .. _Cuccuru2014: http://bioinformatics.oxfordjournals.org/content/30/13/1928
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438 .. |Li2012| replace:: Li, M.-X., *et al.* (2012) A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. *Nucleic Acids Res.* 40(7), e53
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439 .. _Li2012: http://nar.oxfordjournals.org/content/40/7/e53
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440 .. |Li2013| replace:: Li, M.-X., *et al.* (2013) Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies. *PLoS Genet.* 9(1), e1003143
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441 .. _Li2013: http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003143
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442 </help>
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443 </tool>