Mercurial > repos > yusuf > concordance_report
diff ConcordanceReport.xml @ 0:2d601bd04c93 default tip
initial commit
author | Yusuf Ali <ali@yusuf.email> |
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date | Wed, 25 Mar 2015 13:28:12 -0600 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/ConcordanceReport.xml Wed Mar 25 13:28:12 2015 -0600 @@ -0,0 +1,32 @@ +<?xml version="1.0"?> + +<tool id="concordance_report_1" name="Compute intra-NGS concordance"> + <description>over targeted regions in a genome</description> + <version_string>kappa_report -v</version_string> + <command interpreter="perl">kappa_report -q $target_bed $coding_gtf $input_ngs_calls1 $input_bam1 $coverage_cutoff1 $input_ngs_calls2 $input_bam2 $coverage_cutoff2 $out_summary_table</command> + <inputs> + <param format="gtf" name="coding_gtf" type="data" label="Coding regions" help="This must be the same (GTF) file used to define the coding regions for the HGVS annotation of the NGS variant calls"/> + <param format="bed" name="target_bed" type="data" label="Target sequencing regions" help="e.g. a BED file from the Shared Data 'Exome target regions' folder, corresponding to the capture kit used for sequencing the sample"/> + <param format="achri_snp_table" name="input_ngs_calls1" type="data" label="HGVS annotated NGS variant calls for genotyping method #1"/> + <param format="bam" name="input_bam1" type="data" label="Mapped reads file (BAM) that was used to generate the NGS variant calls for genotyping method #1"/> + <param type="integer" name="coverage_cutoff1" value="20" min="1" max="40" label="Report method #1 calls only for positions with read depth equal to or greater than..."/> + <param format="achri_snp_table" name="input_ngs_calls2" type="data" label="HGVS annotated NGS variant calls for genotyping method #2"/> + <param format="bam" name="input_bam2" type="data" label="Mapped reads file (BAM) that was used to generate the NGS variant calls for genotyping method #2"/> + <param type="integer" name="coverage_cutoff2" value="20" min="1" max="40" label="Report method #2 calls only for positions with read depth equal to or greater than..."/> + </inputs> + <outputs> + <data name="out_summary_table" format="tabular" label="Concordance summary (shared, unique calls, etc.)"/> + </outputs> + + <tests> + </tests> + + <help> +**What it does** + +This tool reports several statistics comparing the genotypes derived from two next-gen sequencing runs. This is intended to measure methodological consistency, +assuming the samples for both methods are from the same individual. When coverage is good (typically 10x for colorspace, 20x for base space), there should be a large +(>= 95%) overlap between the calls if they are reasonably accurate. + </help> + +</tool>