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1 <tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@VERSION@.0">
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2 <description>Identifying runs of homozygosity</description>
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3 <expand macro="requirements" />
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4 <expand macro="version_command" />
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5 <macros>
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6 <import>gemini_macros.xml</import>
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7 <token name="@BINARY@">roh</token>
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8 </macros>
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9 <command>
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10 <![CDATA[
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11 gemini @BINARY@
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12 --min-snps $min_snps
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13 --min-total-depth $min_total_depth
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14 --min-gt-depth $min_gt_depth
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15 --min-size $min_size
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16 --max-hets §max_hets
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17 --max-unknowns $max_unknowns
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18 -s $samples
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19 "${ infile }"
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20 -> "${ outfile }"
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21 ]]>
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22 </command>
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23 <expand macro="stdio" />
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24 <inputs>
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25 <param name="infile" type="data" format="sqlite" label="GEMINI database" />
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26
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27 <param name="min_snps" type="integer" value="25" size="5" label="Minimum number of expected homozygous SNPs" help="default: 25 (--min-snps)">
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28 <validator type="in_range" min="0"/>
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29 </param>
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30 <param name="min_total_depth" type="integer" value="20" size="10" label="The minimum overall sequencing depth requiredfor a SNP to be considered" help="default: 20 (--min-total-depth)">
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31 <validator type="in_range" min="0"/>
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32 </param>
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33 <param name="min_gt_depth" type="integer" value="0" size="10" label="The minimum required sequencing depth underlying a given sample's genotype for a SNP to be considered"
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34 help="default: 0 (--min-gt-depth)">
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35 <validator type="in_range" min="0"/>
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36 </param>
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37 <param name="min_size" type="integer" value="100000" size="10" label="Minimum run size in base pairs" help="default: 100000 (--min-size)">
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38 <validator type="in_range" min="1"/>
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39 </param>
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40 <param name="max_hets" type="integer" value="1" size="5" label="Maximum number of allowed hets in the run" help="default: 1 (--max-hets)">
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41 <validator type="in_range" min="1"/>
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42 </param>
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43 <param name="max_unknowns" type="integer" value="3" size="5" label="Maximum number of allowed unknowns in the run" help="default: 3 (-max-unknowns)">
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44 <validator type="in_range" min="0"/>
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45 </param>
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46
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47 <param name="samples" size="30" type="text" value="" label="Comma separated list of samples to screen for ROHs" help="e.g S120,S450 (-s)"/>
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48
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49 </inputs>
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50
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51 <outputs>
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52 <data name="outfile" format="tabular" label="${tool.name} on ${on_string}" />
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53 </outputs>
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54 <tests>
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55 <test>
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56 </test>
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57 </tests>
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58 <help>
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59
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60 **What it does**
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61
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62 ===========================================================================
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63 ``ROH``: Identifying runs of homozygosity
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64 ===========================================================================
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65 Runs of homozygosity are long stretches of homozygous genotypes that reflect
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66 segments shared identically by descent and are a result of consanguinity or
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67 natural selection. Consanguinity elevates the occurrence of rare recessive
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68 diseases (e.g. cystic fibrosis) that represent homozygotes for strongly deleterious
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69 mutations. Hence, the identification of these runs holds medical value.
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70
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71 The 'roh' tool in GEMINI returns runs of homozygosity identified in whole genome data.
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72 The tool basically looks at every homozygous position on the chromosome as a possible
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73 start site for the run and looks for those that could give rise to a potentially long
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74 stretch of homozygous genotypes.
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75
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76 For e.g. for the given example allowing ``1 HET`` genotype (h) and ``2 UKW`` genotypes (u)
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77 the possible roh runs (H) would be:
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78
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79
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80 ::
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81
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82 genotype_run = H H H H h H H H H u H H H H H u H H H H H H H h H H H H H h H H H H H
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83 roh_run1 = H H H H h H H H H u H H H H H u H H H H H H H
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84 roh_run2 = H H H H u H H H H H u H H H H H H H h H H H H H
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85 roh_run3 = H H H H H u H H H H H H H h H H H H H
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86 roh_run4 = H H H H H H H h H H H H H
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87
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88 roh returned for --min-snps = 20 would be:
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89
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90 ::
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91
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92 roh_run1 = H H H H h H H H H u H H H H H u H H H H H H H
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93 roh_run2 = H H H H u H H H H H u H H H H H H H h H H H H H
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94
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95
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96 As you can see, the immediate homozygous position right of a break (h or u) would be the possible
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97 start of a new roh run and genotypes to the left of a break are pruned since they cannot
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98 be part of a longer run than we have seen before.
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99
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100
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101 @CITATION@
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102 </help>
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103 <expand macro="citations"/>
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104 </tool>
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