Mercurial > repos > iuc > cnvkit_export_vcf
diff vcf.xml @ 1:974b39eb89b6 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/cnvkit commit fc1282ec68b346988203ead860e9b9d6a47e9efb
| author | iuc |
|---|---|
| date | Sat, 01 Mar 2025 11:55:26 +0000 |
| parents | 4cf5a2dd27dd |
| children |
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--- a/vcf.xml Mon Jan 20 16:31:16 2025 +0000 +++ b/vcf.xml Sat Mar 01 11:55:26 2025 +0000 @@ -30,14 +30,14 @@ #end if ]]></command> <inputs> - <param name="input_segmented_file" type="data" format="tabular" label="Segmented Copy Ratio Data File (cns file)" help="" /> + <param name="input_segmented_file" type="data" format="cns" label="Segmented Copy Ratio Data File (cns file)" help="" /> <section name="advanced_settings" title="Advanced settings" expanded="false"> - <param argument="--cnr" optional="true" type="data" format="tabular" label="Bin-level copy ratios (cnr)" help="" /> - <param argument="--sample-id" optional="true" type="text" label="Sample ID" value="" help="Sample name to write in the genotype field of the output VCF file" /> + <param argument="--cnr" optional="true" type="data" format="cnr" label="Bin-level copy ratios (cnr)" help="" /> + <param argument="--sample-id" type="text" label="Sample ID" help="Sample name to write in the genotype field of the output VCF file" /> <param argument="--ploidy" optional="true" type="integer" label="Ploidy" min="1" value="2" help="Ploidy of the sample cells. [Default: 2]" /> <expand macro="sample_sex"/> <param argument="--male-reference" type="boolean" checked="false" truevalue="--male-reference" falsevalue="" label="MALE REFERENCE" help="Assume inputs were normalized to a male reference" /> - <param argument="--diploid-parx-genome" optional="true" type="text" label="Diploid Parx Genome" value="" help="Considers the given human genome's PAR of chromosome X as autosomal. Example: 'grch38'" /> + <param argument="--diploid-parx-genome" type="text" label="Diploid Parx Genome" help="Considers the given human genome's PAR of chromosome X as autosomal. Example: 'grch38'" /> </section> </inputs> <outputs> @@ -45,16 +45,52 @@ </outputs> <tests> <test expect_num_outputs="1"> - <param name="input_segmented_file" ftype="tabular" value="sample.cns" /> + <param name="input_segmented_file" ftype="cns" value="sample.cns" /> <param name="sample_id" value="SampleID" /> <param name="sample_sex" value="Female" /> <output name="CNVs_VCF" file="sample.cnv.vcf" ftype="vcf" lines_diff="2" /> </test> </tests> <help><![CDATA[ - Export the segmented copy number data (from a .cns file) to the standard VCF 4.2 format. - The resulting VCF file describes copy number gains and losses across each segment and contains - INFO fields for breakpoints (CIPOS, CIEND) if bin-level data (.cnr) is provided. +Export the segmented copy number data (from a .cns file) to the standard VCF 4.2 format. +The resulting VCF file describes copy number gains and losses across each segment and contains +INFO fields for breakpoints (CIPOS, CIEND) if bin-level data (.cnr) is provided. + +----- + +**Bin-level log2 ratios (.cnr)** + +Tabular file containing normalized log2 ratios for small genomic bins (divided regions of the genome). Used to detect raw copy number variations (CNVs) before segmentation. + +.. csv-table:: + :header-rows: 0 + + "chromosome","Genomic chromosome (e.g., chr1, chrX)" + "start","Start position of the bin." + "end","End position of the bin." + "gene","Gene name(s) overlapping the bin (if applicable)." + "log2","Normalized log2 ratio (sample coverage / reference coverage)." + "depth","Average read depth in the bin." + "weight","Reliability weight of the bin (higher = more reliable)." + +----- + +**Segmented log2 ratios (.cns)** + +Tabular file with smoothed, merged segments of stable copy number, derived from the .cnr file. Represents final CNV calls. + +.. csv-table:: + :header-rows: 0 + + "chromosome","start, end: Genomic coordinates of the segment" + "gene","Gene(s) overlapping the segment." + "log2","Mean log2 ratio of the segment." + "probes","Mean log2 ratio of the segment." + "depth","Average read depth." + "weight","Reliability weight." + "p_value","Statistical confidence (lower = more significant)." + + ]]></help> <expand macro="citations" /> </tool>
