Mercurial > repos > iuc > gemini_inheritance
annotate gemini_inheritance.xml @ 1:162a9d4a3bdc draft
"planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 251c6024b4ff643a63e17fbfe2590998c2bae3a7"
author | iuc |
---|---|
date | Fri, 24 Jan 2020 17:33:03 -0500 |
parents | 3123ce7acd0e |
children | 2c68e29c3527 |
rev | line source |
---|---|
0
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
1 <tool id="gemini_inheritance" name="GEMINI inheritance pattern" version="@VERSION@"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
2 <description>based identification of candidate genes</description> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
3 <macros> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
4 <import>gemini_macros.xml</import> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
5 <xml name="name_X"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
6 <param name="X" type="text" value="" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
7 label="Alias to use for X chromosome" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
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." /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
9 </xml> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
10 </macros> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
11 <expand macro="requirements" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
12 <expand macro="stdio" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
13 <expand macro="version_command" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
14 <command> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
15 <![CDATA[ |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
16 gemini ${inheritance.pattern_type} |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
17 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
18 #for $cond in $inheritance.constraint: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
19 #set $filter = str($cond.filter).strip() |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
20 #if str($filter): |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
21 #if str($inheritance.pattern_type) == "comp_hets" and $cond.overwrite_default_filter: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
22 --gene-where '$filter' |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
23 #else: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
24 --filter '$filter' |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
25 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
26 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
27 #end for |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
28 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
29 #if str($inheritance.pattern_type) in ("comp_hets", "mendel_errors"): |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
30 ${inheritance.by_pattern_only} |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
31 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
32 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
33 ${inheritance.lenient} |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
34 ${inheritance.allow_unaffected} |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
35 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
36 #if str($inheritance.pattern_type).startswith('x_linked_') and str($inheritance.X).strip(): |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
37 -X "${inheritance.X}" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
38 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
39 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
40 #if int($family_wise.min_kindreds) > 0: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
41 --min-kindreds ${family_wise.min_kindreds} |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
42 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
43 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
44 #if str($family_wise.families).strip(): |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
45 #set $families = ','.join([f.strip() for f in $family_wise.families.split(',')]) |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
46 --families "$families" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
47 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
48 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
49 #if int($family_wise.per_variant_selection.min_dp) > 0: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
50 -d ${family_wise.per_variant_selection.min_dp} |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
51 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
52 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
53 #if int($family_wise.per_variant_selection.min_gq) > 0: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
54 --min-gq ${family_wise.per_variant_selection.min_gq} |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
55 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
56 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
57 #if int($family_wise.per_variant_selection.max_pl) > -1: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
58 --gt-pl-max ${family_wise.per_variant_selection.max_pl} |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
59 #end if |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
60 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
61 #set $report = $oformat.report |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
62 @COLUMN_SELECT@ |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
63 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
64 "${ infile }" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
65 > "${ outfile }" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
66 ]]> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
67 </command> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
68 <inputs> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
69 <expand macro="infile" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
70 <conditional name="inheritance"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
71 <param name="pattern_type" type="select" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
72 label="Your assumption about the inheritance pattern of the phenotype of interest"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
73 <option value="autosomal_recessive">Autosomal recessive</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
74 <option value="autosomal_dominant">Autosomal dominant</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
75 <option value="x_linked_recessive">X-linked recessive</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
76 <option value="x_linked_dominant">X-linked dominant</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
77 <option value="de_novo">Autosomal de-novo</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
78 <option value="x_linked_de_novo">X-linked de-novo</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
79 <option value="comp_hets">Compound heterozygous</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
80 <option value="mendel_errors">Violation of mendelian laws (LOH, plausible and implausible de-novo, uniparental disomy)</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
81 </param> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
82 <when value="comp_hets"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
83 <expand macro="insert_constraint"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
84 <expand macro="overwritable_where_default" default_where="exonic and high-impact variants (SQL clause: is_exonic = 1 or impact_severity != 'LOW')" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
85 </expand> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
86 <param argument="--pattern-only" name="by_pattern_only" type="boolean" truevalue="--pattern-only" falsevalue="" checked="false" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
87 label="Ignore sample phenotypes during variant identification" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
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)." /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
89 <expand macro="lenient" argument="--max-priority" truevalue="--max-priority 3" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
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." /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
91 <expand macro="unaffected" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
92 </when> |
3123ce7acd0e
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"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" |
3123ce7acd0e
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" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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." /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
98 <expand macro="lenient" /> |
3123ce7acd0e
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="" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
100 </when> |
3123ce7acd0e
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"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
103 <expand macro="lenient" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
104 <expand macro="unaffected" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
105 </when> |
3123ce7acd0e
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"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
108 <expand macro="lenient" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
109 <expand macro="unaffected" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
110 </when> |
3123ce7acd0e
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"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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="" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
114 <expand macro="unaffected" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
116 </when> |
3123ce7acd0e
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"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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="" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
120 <expand macro="unaffected" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
122 </when> |
3123ce7acd0e
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"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
125 <expand macro="lenient" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
126 <expand macro="unaffected" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
127 </when> |
3123ce7acd0e
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"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
130 <param name="lenient" type="hidden" value="" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
131 <expand macro="unaffected" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
133 </when> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
134 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
135 <section name="family_wise" title="Family-wise criteria for variant selection" expanded="true"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
137 <param argument="--families" name="families" type="text" value="" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
138 label="List of families to restrict the analysis to (comma-separated)" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
139 help="Leave empty for an analysis including all families"/> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
140 <conditional name="per_variant_selection"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
141 <param name="enabled" type="select" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
142 label="Specify additional criteria to exclude families on a per-variant basis"> |
3123ce7acd0e
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> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
144 <option value="yes">Yes, filter variants within families</option> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
145 </param> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
146 <when value="no"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
147 <param name="min_dp" type="hidden" value="0" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
148 <param name="min_gq" type="hidden" value="0" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
150 </when> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
151 <when value="yes"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
152 <param argument="-d" name="min_dp" type="integer" value="0" min="0" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
153 label="Per-variant DP threshold for including a family" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
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)" /> |
3123ce7acd0e
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" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
156 label="per-variant GQ threshold for including a family" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
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)"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
158 </param> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
159 <param argument="--gt-pl-max" name="max_pl" type="integer" value="-1" min="-1" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
160 label="per-variant PL threshold for including a family" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
162 </when> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
163 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
164 </section> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
165 <section name="oformat" title="Output - included information" expanded="true"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
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."/> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
167 </section> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
168 </inputs> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
169 <outputs> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
170 <data name="outfile" format="tabular" |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
171 label="GEMINI ${inheritance.pattern_type} pattern on ${on_string}" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
172 </outputs> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
173 <tests> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
174 <test> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
175 <param name="infile" value="gemini_auto_dom_input.db" ftype="gemini.sqlite" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
176 <conditional name="inheritance"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
177 <param name="pattern_type" value="autosomal_dominant" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
178 <param name="lenient" value="true" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
179 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
180 <conditional name="report"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
181 <param name="report_selector" value="minimal" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
182 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
183 <output name="outfile"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
184 <assert_contents> |
3123ce7acd0e
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	gene	.*" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
186 </assert_contents> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
187 </output> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
188 </test> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
189 <test> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
191 <conditional name="inheritance"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
194 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
195 <section name="oformat"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
196 <conditional name="report"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
199 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
200 </section> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
201 <output name="outfile"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
202 <assert_contents> |
3123ce7acd0e
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	chrom	impact.*" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
204 </assert_contents> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
205 </output> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
206 </test> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
207 <test> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
209 <conditional name="inheritance"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
212 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
213 <section name="oformat"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
214 <conditional name="report"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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 |
3123ce7acd0e
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 --> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
219 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
220 </section> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
221 <output name="outfile"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
222 <assert_contents> |
3123ce7acd0e
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	chrom	impact.*" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
224 </assert_contents> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
225 </output> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
226 </test> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
227 <test> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
229 <conditional name="inheritance"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
232 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
233 <section name="oformat"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
234 <conditional name="report"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
237 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
238 </section> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
239 <output name="outfile"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
240 <assert_contents> |
3123ce7acd0e
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	chrom	impact.*" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
242 </assert_contents> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
243 </output> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
244 </test> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
245 <test> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
247 <conditional name="inheritance"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
249 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
250 <section name="oformat"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
251 <conditional name="report"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
254 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
255 </section> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
256 <output name="outfile"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
257 <assert_contents> |
3123ce7acd0e
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	ref	alt	impact.*" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
259 </assert_contents> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
260 </output> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
261 </test> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
262 <test> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
264 <conditional name="inheritance"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
268 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
269 <section name="oformat"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
270 <conditional name="report"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
273 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
274 </section> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
275 <output name="outfile"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
276 <assert_contents> |
3123ce7acd0e
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	start	end	.*gene.*" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
278 </assert_contents> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
279 </output> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
280 </test> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
281 <test> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
283 <conditional name="inheritance"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
285 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
286 <section name="oformat"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
287 <conditional name="report"> |
3123ce7acd0e
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" /> |
3123ce7acd0e
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" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
290 </conditional> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
291 </section> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
292 <output name="outfile"> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
293 <assert_contents> |
3123ce7acd0e
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	ref	alt	impact	.*violation.*" /> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
295 </assert_contents> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
296 </output> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
297 </test> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
298 </tests> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
299 <help> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
300 <![CDATA[ |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
301 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
302 **What it does** |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
303 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
307 |
3123ce7acd0e
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** |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
309 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
310 *Autosomal recessive* |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
311 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
312 Criteria: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
313 |
3123ce7acd0e
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 |
3123ce7acd0e
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) |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
318 |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
320 applied. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
321 |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
324 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
325 ---- |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
326 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
327 *Autosomal dominant* |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
328 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
329 Criteria: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
330 |
3123ce7acd0e
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 |
3123ce7acd0e
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) |
3123ce7acd0e
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) |
3123ce7acd0e
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). |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
338 |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
340 enforced. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
341 |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
344 |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
347 |
3123ce7acd0e
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), |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
350 being affected. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
351 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
352 ---- |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
353 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
354 *X-linked recessive* |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
355 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
356 Criteria: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
357 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
362 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
364 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
365 ---- |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
366 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
367 *X-linked dominant* |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
368 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
369 Criteria: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
370 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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) |
3123ce7acd0e
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). |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
378 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
380 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
381 ---- |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
382 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
383 *De-novo mutations* |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
384 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
385 Criteria: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
386 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
393 |
3123ce7acd0e
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``. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
395 |
3123ce7acd0e
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] |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
397 is not enforced. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
398 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
399 ---- |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
400 |
3123ce7acd0e
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* |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
402 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
403 Criteria: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
404 |
3123ce7acd0e
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 |
3123ce7acd0e
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) |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
408 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
410 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
411 ---- |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
412 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
413 *Compound heterozygosity* |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
414 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
419 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
425 by transmission. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
426 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
427 Criteria (default): |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
428 |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
432 sites. |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
434 priority. |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
436 |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
438 het-pair |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
440 each candidate pair. |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
442 pair are removed. |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
445 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
451 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
452 Criteria (``--pattern-only``): |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
453 |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
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. |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
464 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
465 ---- |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
466 |
3123ce7acd0e
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* |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
468 |
3123ce7acd0e
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: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
470 |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
472 - de-novo mutations |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
475 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
476 Criteria: |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
477 |
3123ce7acd0e
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 |
3123ce7acd0e
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 |
3123ce7acd0e
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. |
3123ce7acd0e
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 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
482 |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
483 ]]> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
484 </help> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
485 <expand macro="citations"/> |
3123ce7acd0e
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/gemini commit 62ed732cba355e695181924a8ed4cce49ca21c59
iuc
parents:
diff
changeset
|
486 </tool> |