Mercurial > repos > iuc > gemini_inheritance

annotate gemini_inheritance.xml @ 0:541cb8265fe4 draft

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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
author iuc
date Fri, 11 Jan 2019 17:29:27 -0500
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children 7982b8deb171
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541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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1 <tool id="gemini_inheritance" name="GEMINI inheritance pattern" version="@VERSION@">
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2 <description>based identification of candidate genes</description>
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3 <macros>
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4 <import>gemini_macros.xml</import>
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5 <xml name="name_X">
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6 <param name="X" type="text" value=""
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7 label="Alias to use for X chromosome"
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8 help="The tool expects the X chromosome to be named 'X' or 'chrX'. If the reference genome used for variant calling had a different name for it, you will have to specify it here." />
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9 </xml>
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10 </macros>
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11 <expand macro="requirements" />
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12 <expand macro="stdio" />
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13 <expand macro="version_command" />
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14 <command>
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15 <![CDATA[
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16 gemini ${inheritance.pattern_type}
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17
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18 #for $cond in $inheritance.constraint:
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19 #set $filter = str($cond.filter).strip()
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20 #if str($filter):
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21 #if str($inheritance.pattern_type) == "comp_hets" and $cond.overwrite_default_filter:
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22 --gene-where '$filter'
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23 #else:
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24 --filter '$filter'
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25 #end if
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26 #end if
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27 #end for
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28
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29 #if str($inheritance.pattern_type) in ("comp_hets", "mendel_errors"):
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30 ${inheritance.by_pattern_only}
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31 #end if
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32
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33 ${inheritance.lenient}
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34 ${inheritance.allow_unaffected}
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35
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36 #if str($inheritance.pattern_type).startswith('x_linked_') and str($inheritance.X).strip():
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37 -X "${inheritance.X}"
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38 #end if
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39
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40 #if int($family_wise.min_kindreds) > 0:
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41 --min-kindreds ${family_wise.min_kindreds}
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42 #end if
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43
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44 #if str($family_wise.families).strip():
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45 #set $families = ','.join([f.strip() for f in $family_wise.families.split(',')])
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46 --families "$families"
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47 #end if
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48
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49 #if int($family_wise.per_variant_selection.min_dp) > 0:
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50 -d ${family_wise.per_variant_selection.min_dp}
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51 #end if
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52
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53 #if int($family_wise.per_variant_selection.min_gq) > 0:
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54 --min-gq ${family_wise.per_variant_selection.min_gq}
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55 #end if
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56
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57 #if int($family_wise.per_variant_selection.max_pl) > -1:
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58 --gt-pl-max ${family_wise.per_variant_selection.max_pl}
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59 #end if
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60
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61 #set $report = $oformat.report
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62 @COLUMN_SELECT@
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63
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64 "${ infile }"
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65 > "${ outfile }"
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66 ]]>
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67 </command>
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68 <inputs>
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69 <expand macro="infile" />
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70 <conditional name="inheritance">
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71 <param name="pattern_type" type="select"
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72 label="Your assumption about the inheritance pattern of the phenotype of interest">
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73 <option value="autosomal_recessive">Autosomal recessive</option>
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74 <option value="autosomal_dominant">Autosomal dominant</option>
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75 <option value="x_linked_recessive">X-linked recessive</option>
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76 <option value="x_linked_dominant">X-linked dominant</option>
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77 <option value="de_novo">Autosomal de-novo</option>
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78 <option value="x_linked_de_novo">X-linked de-novo</option>
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79 <option value="comp_hets">Compound heterozygous</option>
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80 <option value="mendel_errors">Violation of mendelian laws (LOH, plausible and implausible de-novo, uniparental disomy)</option>
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81 </param>
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82 <when value="comp_hets">
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83 <expand macro="insert_constraint">
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84 <expand macro="overwritable_where_default" default_where="exonic and high-impact variants (SQL clause: is_exonic = 1 or impact_severity != 'LOW')" />
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85 </expand>
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86 <param argument="--pattern-only" name="by_pattern_only" type="boolean" truevalue="--pattern-only" falsevalue="" checked="false"
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87 label="Ignore sample phenotypes during variant identification"
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88 help="When turned on, the identification of compound heterozygous variant pairs gets based on the family tree only, i.e., the tool looks for heterozygous allele pairs in any kid that weren't occuring together in the parents (see the tool help below for the exact criteria used to detect compound heterozygosity)." />
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89 <expand macro="lenient" argument="--max-priority" truevalue="--max-priority 3"
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90 help="When turned on, runs the tool with --max-priority 3 instead of the default value 1. This leads to inclusion of more ambiguous cases of compound heterozygosity." />
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91 <expand macro="unaffected" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
92 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
93 <when value="mendel_errors">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
94 <expand macro="insert_constraint" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
95 <param argument="--only-affected" name="by_pattern_only" type="boolean" truevalue="" falsevalue="--only-affected" checked="false"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
96 label="Ignore sample phenotypes during variant identification"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
97 help="When turned on, the identification of candidate variants gets based on the observed inheritance pattern only. The default is to report candidates only if there is evidence for them being phenotypically relevant, i.e., if they are observed in an affected sample." />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
98 <expand macro="lenient" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
99 <param name="allow_unaffected" type="hidden" value="" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
100 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
101 <when value="autosomal_recessive">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
102 <expand macro="insert_constraint" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
103 <expand macro="lenient" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
104 <expand macro="unaffected" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
105 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
106 <when value="autosomal_dominant">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
107 <expand macro="insert_constraint" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
108 <expand macro="lenient" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
109 <expand macro="unaffected" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
110 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
111 <when value="x_linked_recessive">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
112 <expand macro="insert_constraint" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
113 <param name="lenient" type="hidden" value="" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
114 <expand macro="unaffected" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
115 <expand macro="name_X" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
116 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
117 <when value="x_linked_dominant">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
118 <expand macro="insert_constraint" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
119 <param name="lenient" type="hidden" value="" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
120 <expand macro="unaffected" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
121 <expand macro="name_X" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
122 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
123 <when value="de_novo">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
124 <expand macro="insert_constraint" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
125 <expand macro="lenient" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
126 <expand macro="unaffected" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
127 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
128 <when value="x_linked_de_novo">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
129 <expand macro="insert_constraint" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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130 <param name="lenient" type="hidden" value="" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
131 <expand macro="unaffected" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
132 <expand macro="name_X" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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diff changeset
133 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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134 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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135 <section name="family_wise" title="Family-wise criteria for variant selection" expanded="true">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
136 <expand macro="min_kindreds" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
137 <param argument="--families" name="families" type="text" value=""
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
138 label="List of families to restrict the analysis to (comma-separated)"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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139 help="Leave empty for an analysis including all families"/>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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140 <conditional name="per_variant_selection">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
141 <param name="enabled" type="select"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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142 label="Specify additional criteria to exclude families on a per-variant basis">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
143 <option value="no">No, analyze all variants from all included families</option>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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144 <option value="yes">Yes, filter variants within families</option>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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145 </param>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
146 <when value="no">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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147 <param name="min_dp" type="hidden" value="0" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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148 <param name="min_gq" type="hidden" value="0" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
149 <param name="max_pl" type="hidden" value="-1" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
150 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
151 <when value="yes">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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152 <param argument="-d" name="min_dp" type="integer" value="0" min="0"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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153 label="Per-variant DP threshold for including a family"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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154 help="All samples from a family must have a sequencing depth of at least this value at a given variant site in order for the family to be included in the analysis of this particular variant. default: 0 (do not apply this filter)" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
155 <param argument="--min-gq" name="min_gq" type="integer" value="0" min="0"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
156 label="per-variant GQ threshold for including a family"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
157 help="The genotypes of all samples from a family must be called with at least this quality at a given variant site in order for the family to be included in the analysis of this particular variant. default: 0 (do not apply this filter)">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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158 </param>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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159 <param argument="--gt-pl-max" name="max_pl" type="integer" value="-1" min="-1"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
160 label="per-variant PL threshold for including a family"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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161 help="The genotypes at a given variant site of all samples from a family must not have a higher (phred-scaled) likelihood to be wrong than this value in order for the family to be included in the analysis of this particular variant. default: -1 (do not apply this filter); if used the GEMINI documentation suggests 10 as a reasonable value" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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162 </when>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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163 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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164 </section>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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165 <section name="oformat" title="Output - included information" expanded="true">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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166 <expand macro="column_filter" help="The tool reports key information about the inheritance pattern detection for each candidate variant found. It can precede each such row with additional columns, listing information about the variant taken from the variants table of the GEMINI database. Here, you can control which subset of the variants table columns should be added to the output."/>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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diff changeset
167 </section>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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diff changeset
168 </inputs>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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169 <outputs>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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170 <data name="outfile" format="tabular"
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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171 label="GEMINI ${inheritance.pattern_type} pattern on ${on_string}" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
172 </outputs>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
173 <tests>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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diff changeset
174 <test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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175 <param name="infile" value="gemini_auto_dom_input.db" ftype="gemini.sqlite" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
176 <conditional name="inheritance">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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177 <param name="pattern_type" value="autosomal_dominant" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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178 <param name="lenient" value="true" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
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179 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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180 <conditional name="report">
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iuc
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181 <param name="report_selector" value="minimal" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
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182 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
183 <output name="outfile">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
184 <assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
185 <has_line_matching expression="variant_id&#009;gene&#009;.*" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
186 </assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
187 </output>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
188 </test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
189 <test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
190 <param name="infile" value="gemini_auto_dom_input.db" ftype="gemini.sqlite" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
191 <conditional name="inheritance">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
192 <param name="pattern_type" value="autosomal_dominant" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
193 <param name="lenient" value="true" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
194 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
195 <section name="oformat">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
196 <conditional name="report">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
197 <param name="report_selector" value="custom" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
198 <param name="columns" value="gene,chrom,impact" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
199 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
200 </section>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
201 <output name="outfile">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
202 <assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
203 <has_line_matching expression="gene&#009;chrom&#009;impact.*" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
204 </assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
205 </output>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
206 </test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
207 <test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
208 <param name="infile" value="gemini_auto_dom_input.db" ftype="gemini.sqlite" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
209 <conditional name="inheritance">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
210 <param name="pattern_type" value="autosomal_dominant" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
211 <param name="lenient" value="true" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
212 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
213 <section name="oformat">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
214 <conditional name="report">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
215 <param name="report_selector" value="custom" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
216 <!-- test with empty multiselect list and columns specified
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
217 via text field instead -->
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
218 <param name="extra_cols" value="gene,chrom,impact" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
219 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
220 </section>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
221 <output name="outfile">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
222 <assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
223 <has_line_matching expression="gene&#009;chrom&#009;impact.*" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
224 </assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
225 </output>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
226 </test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
227 <test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
228 <param name="infile" value="gemini_auto_rec_input.db" ftype="gemini.sqlite" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
229 <conditional name="inheritance">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
230 <param name="pattern_type" value="autosomal_recessive" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
231 <param name="lenient" value="true" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
232 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
233 <section name="oformat">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
234 <conditional name="report">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
235 <param name="report_selector" value="custom" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
236 <param name="columns" value="gene,chrom,impact" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
237 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
238 </section>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
239 <output name="outfile">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
240 <assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
241 <has_line_matching expression="gene&#009;chrom&#009;impact.*" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
242 </assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
243 </output>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
244 </test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
245 <test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
246 <param name="infile" value="gemini_de_novo_input.db" ftype="gemini.sqlite" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
247 <conditional name="inheritance">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
248 <param name="pattern_type" value="de_novo" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
249 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
250 <section name="oformat">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
251 <conditional name="report">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
252 <param name="report_selector" value="custom" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
253 <param name="columns" value="gene,ref,alt,impact" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
254 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
255 </section>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
256 <output name="outfile">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
257 <assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
258 <has_line_matching expression="gene&#009;ref&#009;alt&#009;impact.*" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
259 </assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
260 </output>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
261 </test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
262 <test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
263 <param name="infile" value="gemini_comphets_input.db" ftype="gemini.sqlite" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
264 <conditional name="inheritance">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
265 <param name="pattern_type" value="comp_hets" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
266 <param name="lenient" value="true" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
267 <param name="allow_unaffected" value="true" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
268 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
269 <section name="oformat">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
270 <conditional name="report">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
271 <param name="report_selector" value="custom" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
272 <param name="columns" value="chrom,start,end,ref,alt,gene,impact" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
273 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
274 </section>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
275 <output name="outfile">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
276 <assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
277 <has_line_matching expression="chrom&#009;start&#009;end&#009;.*gene.*" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
278 </assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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279 </output>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
280 </test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
281 <test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
282 <param name="infile" value="gemini_de_novo_input.db" ftype="gemini.sqlite" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
283 <conditional name="inheritance">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
284 <param name="pattern_type" value="mendel_errors" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
285 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
286 <section name="oformat">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
287 <conditional name="report">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
288 <param name="report_selector" value="custom" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
289 <param name="columns" value="gene,ref,alt,impact" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
290 </conditional>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
291 </section>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
292 <output name="outfile">
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
293 <assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
294 <has_line_matching expression="gene&#009;ref&#009;alt&#009;impact&#009;.*violation.*" />
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
295 </assert_contents>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
296 </output>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
297 </test>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
298 </tests>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
299 <help>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
300 <![CDATA[
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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301
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
302 **What it does**
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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303
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
304 Assuming you have defined the familial relationships between samples when
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
305 loading your VCF into GEMINI, you can use this tool to identify candidate genes
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
306 and variants that explain the inheritance pattern of a phenotype of interest.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
307
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
308 **Inheritance pattern detection rules**
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
309
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
310 *Autosomal recessive*
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
311
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
312 Criteria:
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
313
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
314 - all affected must be hom_alt
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
315 - [affected] no unaffected can be hom_alt (can be unknown)
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
316 - [default] if parents exist they must be unaffected and het for all affected kids
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
317 - [default] if there are no affecteds that have a parent, a warning is issued.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
318
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
319 If ``--lenient`` is specified, the 2 criteria prefixed with “[default]” are not
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
320 applied.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
321
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
322 If ``--allow-unaffected`` is specified, the criterion prefixed with
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
323 “[affected]” is not enforced.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
324
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
325 ----
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
326
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
327 *Autosomal dominant*
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
328
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
329 Criteria:
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
330
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
331 - All affecteds must be het
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
332 - [affected] No unaffected can be het or homalt (can be unknown)
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
333 - de_novo mutations are not auto_dom (at least not in the first generation)
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
334 - At least 1 affected must have 1 affected parent (or have no parents).
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
335 - If no affected has a parent, a warning is issued.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
336 - [default] All affecteds must have parents with known phenotype.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
337 - [default] All affected kids must have at least 1 affected parent
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
338
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
339 If ``--lenient`` is specified, the criteria prefixed with “[default]” are not
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
340 enforced.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
341
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
342 If ``--allow-unaffected`` is specified, the criterion prefixed with
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
343 “[affected]” is not enforced.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
344
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
345 Note that, for autosomal dominant, ``--lenient`` allows singleton affecteds to
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
346 be used to meet the ``--min-kindreds`` requirement if they are HET.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
347
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
348 If there is incomplete penetrance in the kindred (unaffected obligate carriers),
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
349 these individuals currently must be coded as having unknown phenotype or as
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
350 being affected.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
351
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
352 ----
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
353
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
354 *X-linked recessive*
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
355
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
356 Criteria:
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
357
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
358 - Affected females must be HOM_ALT
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
359 - Unaffected females are HET or HOM_REF
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
360 - Affected males are not HOM_REF
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
361 - Unaffected males are HOM_REF
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
362
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
363 Note: Pseudo-autosomal regions are not accounted for by the tool.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
364
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
365 ----
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
366
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
367 *X-linked dominant*
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
368
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
369 Criteria:
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
370
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
371 - Affected males are HET or HOM_ALT
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
372 - Affected females must be HET
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
373 - Unaffecteds must be HOM_REF
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
374 - girls of affected dad must be affected
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
375 - boys of affected dad must be unaffected
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
376 - mothers of affected males must be het (and affected)
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
377 - at least 1 parent of affected females must be het (and affected).
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
378
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
379 Note: Pseudo-autosomal regions are not accounted for by the tool.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
380
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
381 ----
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
382
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
383 *De-novo mutations*
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
384
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
385 Criteria:
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
386
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
387 - all affected must be het
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
388 - [affected] all unaffected must be homref or homalt
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
389 - at least 1 affected kid must have unaffected parents
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
390 - [default] if an affected has affected parents, it’s not de_novo
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
391 - [default] all affected kids must have unaffected (or no) parents
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
392 - [default] warning if none of the affected samples have parents.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
393
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
394 The last 3 items, prefixed with [default] can be turned off with ``--lenient``.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
395
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
396 If ``--allow-unaffected`` is specified, then the criterion prefixed [affected]
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
397 is not enforced.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
398
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
399 ----
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
400
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
401 *X-linked de-novo mutations*
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
402
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
403 Criteria:
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
404
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
405 - affected female child must be het
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
406 - affected male child must be hom_alt (or het)
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
407 - parents should be unaffected and hom_ref
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
408
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
409 Note: Pseudo-autosomal regions are not accounted for by the tool.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
410
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
411 ----
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
412
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
413 *Compound heterozygosity*
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
414
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
415 Unlike canonical recessive sites where the same recessive allele is inherited
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
416 from both parents at the *same* site in the gene, compound heterozygosity
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
417 occurs when the individual’s phenotype is caused by two heterozygous recessive
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
418 alleles at *different* sites in a particular gene.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
419
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
420 To detect compound heterozygosity, the tool looks for two heterozygous variants
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
421 impacting the same gene at different loci. The complicating factor is that this
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
422 is a case of *recessive* inheritance and as such, we must also require that the
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
423 consequential alleles at each heterozygous site were inherited on different
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
424 chromosomes (one from each parent). Hence, where possible, the tool will phase
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
425 by transmission.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
426
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
427 Criteria (default):
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
428
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
429 - All affected individuals must be heterozygous at both sites.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
430 - No unaffected can be homozygous alterate at either site.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
431 - Neither parent of an affected sample can be homozygous reference at both
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
432 sites.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
433 - If any unphased-unaffected is het at both sites, the site will be given lower
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
434 priority.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
435 - No phased-unaffected can be heterozygous at both sites.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
436
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
437 a. ``--allow-unaffected`` keeps sites where a phased unaffected shares the
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
438 het-pair
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
439 b. unphased, unaffected that share the het pair are counted and reported for
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
440 each candidate pair.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
441 - Candidates where an affected from the same family does NOT share the same het
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
442 pair are removed.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
443 - Sites are automatically phased by transmission when parents are present in
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
444 order to remove false positive candidates.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
445
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
446 If data from one or both parents are unavailable and the child’s data was not
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
447 phased prior to loading into GEMINI, all comp_het variant pairs will
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
448 automatically be given at most priority == 2. If there’s only a single parent
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
449 and both the parent and the affected are HET at both sites, the candidate
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
450 will have priority 3.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
451
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
452 Criteria (``--pattern-only``):
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
453
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
454 - Kid must be HET at both sites.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
455 - Kid must have alts on different chromosomes.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
456 - Neither parent can be HOM_ALT at either site.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
457 - If either parent is phased at both sites and matches the kid, it’s excluded.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
458 - When the above criteria are met, and both parents and kid are phased or
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
459 parents are HET at different sites, the priority is 1.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
460 - If either parent is HET at both sites, priority is reduced.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
461 - If both parents are not phased, the priority is 2.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
462 - For every parent that’s a het at both sites, the priority is incremented by 1.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
463 - The priority in a family is the minimum found among all kids.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
464
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
465 ----
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
466
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
467 *Violation of Mendelian laws*
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
468
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
469 The tool can be used to detect the following kinds of non-Mendelian patterns:
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
470
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
471 - loss of heterozygosity (LOH) events
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
472 - de-novo mutations
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
473 - implausible de-novo mutations
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
474 - potential cases of uniparental disomy
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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475
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
476 Criteria:
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
477
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
478 - LOH: child and one parent are opposite homozygotes; other parent is HET
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
479 - plausible de novo: kid is het. parents are same homozygotes
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
480 - implausible de novo: kid is homozygote. parents are same homozygotes and opposite to kid.
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
481 - uniparental disomy: parents are opposite homozygotes; kid is homozygote
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
482
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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483 ]]>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
484 </help>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff changeset
485 <expand macro="citations"/>
541cb8265fe4 planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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486 </tool>