Mercurial > repos > nml > gnali
comparison gnali.xml @ 6:d1085589a5a7 draft
"planemo upload for repository https://github.com/phac-nml/gnali/ commit 8779aba2c77e9ed7364c91e04a75b9c3468b7143"
author | nml |
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date | Fri, 11 Jun 2021 21:08:17 +0000 |
parents | 65521c432f58 |
children | 2b1154ae7e21 |
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5:65521c432f58 | 6:d1085589a5a7 |
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1 <tool id="gnali" name="gNALI" version="@VERSION@" python_template_version="3.7"> | 1 <tool id="gnali" name="gNALI" version="@VERSION@" python_template_version="3.7" profile="@PROFILE_VERSION@"> |
2 <description>Get nonessential, LoF variants</description> | 2 <description>Get and filter nonessential, loss-of-function variants</description> |
3 <macros> | 3 <macros> |
4 <import>macros.xml</import> | 4 <import>macros.xml</import> |
5 </macros> | 5 </macros> |
6 <expand macro="requirements" /> | 6 <expand macro="requirements" /> |
7 <command detect_errors="exit_code"><![CDATA[ | 7 <command detect_errors="exit_code"><![CDATA[ |
27 <param name="vcf_output" type="boolean" truevalue="--vcf" falsevalue="" optional="false" checked="false" label="VCF output" help="Generate vcf file for filtered variants" /> | 27 <param name="vcf_output" type="boolean" truevalue="--vcf" falsevalue="" optional="false" checked="false" label="VCF output" help="Generate vcf file for filtered variants" /> |
28 <param name="pop_freqs" type="boolean" truevalue="--pop_freqs" falsevalue="" optional="false" checked="false" label="Population frequencies" help="Generate population frequency data for variants that passed filtering" /> | 28 <param name="pop_freqs" type="boolean" truevalue="--pop_freqs" falsevalue="" optional="false" checked="false" label="Population frequencies" help="Generate population frequency data for variants that passed filtering" /> |
29 <conditional name="database_info"> | 29 <conditional name="database_info"> |
30 <param type="select" name="database" label="Database" format="txt" help="Database to query" > | 30 <param type="select" name="database" label="Database" format="txt" help="Database to query" > |
31 <option value="gnomadv2.1.1" selected="true">gnomADv2.1.1 (GRCh37/hg19)</option> | 31 <option value="gnomadv2.1.1" selected="true">gnomADv2.1.1 (GRCh37/hg19)</option> |
32 <option value="gnomadv3">gnomADv3 (GRCh38/hg38)</option> | 32 <option value="gnomadv3.1.1">gnomADv3.1.1 (GRCh38/hg38)</option> |
33 </param> | 33 </param> |
34 <when value="gnomadv2.1.1"> | 34 <when value="gnomadv2.1.1"> |
35 <param name="predefined_filters" type="select" display="checkboxes" multiple="True" label="Predefined filters" help="Filter variants by selected filters"> | 35 <param name="predefined_filters" type="select" display="checkboxes" multiple="True" label="Predefined filters" help="Filter variants by selected filters"> |
36 <option value="homozygous-controls">homozygous controls (controls_nhomalt>0)</option> | 36 <option value="homozygous-controls">homozygous controls (controls_nhomalt>0)</option> |
37 <option value="heterozygous-controls">heterozygous controls (controls_nhomalt=0)</option> | 37 <option value="heterozygous-controls">heterozygous controls (controls_nhomalt=0)</option> |
38 <option value="nhomalt>0">homozygous (nhomalt>0)</option> | 38 <option value="homozygous">homozygous (nhomalt>0)</option> |
39 </param> | 39 </param> |
40 </when> | 40 </when> |
41 <when value="gnomadv3"> | 41 <when value="gnomadv3.1.1"> |
42 <param name="predefined_filters" type="select" display="checkboxes" multiple="True" label="Predefined filters" help="Filter variants by selected filters"> | 42 <param name="predefined_filters" type="select" display="checkboxes" multiple="True" label="Predefined filters" help="Filter variants by selected filters"> |
43 <option value="homozygous">homozygous (nhomalt>0)</option> | 43 <option value="homozygous">homozygous (nhomalt>0)</option> |
44 <option value="heterozygous">heterozygous (nhomalt=0)</option> | 44 <option value="heterozygous">heterozygous (nhomalt=0)</option> |
45 </param> | 45 </param> |
46 </when> | 46 </when> |
94 | 94 |
95 gNALI (gene nonessentiality and loss-of-function identifier) is a tool to find (high confidence) | 95 gNALI (gene nonessentiality and loss-of-function identifier) is a tool to find (high confidence) |
96 potential loss of function variants of genes. | 96 potential loss of function variants of genes. |
97 | 97 |
98 NOTE: loss-of-function is influenced by the genome build. Not all variants available in gnomADv2.1.1 are | 98 NOTE: loss-of-function is influenced by the genome build. Not all variants available in gnomADv2.1.1 are |
99 available in gnomADv3 and vice versa. | 99 available in gnomADv3.1.1 and vice versa. |
100 | 100 |
101 Usage | 101 Usage |
102 ----------- | 102 ----------- |
103 | 103 |
104 Your input file must be of format .csv, .txt, or tsv and should contain a list of genes | 104 Your input file must be of format .csv, .txt, or tsv and should contain a list of genes |