Mercurial > repos > yusuf > microarray_report
diff MicroarrayReports.xml @ 0:882d119ede1f default tip
initial commit
author | Yusuf Ali <ali@yusuf.email> |
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date | Wed, 25 Mar 2015 13:40:00 -0600 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/MicroarrayReports.xml Wed Mar 25 13:40:00 2015 -0600 @@ -0,0 +1,44 @@ +<?xml version="1.0"?> + +<tool id="microarray_reports_1" name="Compute NGS/microarray concordance"> + <description>over targeted regions in a genome</description> + <version_string>microarray_reports -v</version_string> + <command interpreter="perl">microarray_reports $__tool_data_path__ -q $out_discordant_bed $out_summary_table $input_ngs_calls $input_micro_calls $input_bam $target_gtf $ref_genome.fa $coverage_cutoff $target_bed</command> + <inputs> + <param format="achri_snp_table" name="input_ngs_calls" type="data" label="HGVS annotated NGS variant calls"/> + <param format="tabular" name="input_micro_calls" type="data" label="Microarray genotype calls. See help info below this form for required input format."/> + <param format="bam" name="input_bam" type="data" label="Mapped reads file (BAM) that was used to generate the NGS variant calls"/> + <param type="integer" name="coverage_cutoff" value="9" min="0" max="40" label="Report only positions with read depth greater than..."/> + <param name="ref_genome" type="genomebuild" label="Reference genome" help="against which the NGS variants were called"/> + <param format="gtf" name="target_gtf" type="data" label="Target 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 the + to the capture kit used for sequencing the sample"/> + </inputs> + <outputs> + <data name="out_summary_table" format="tabular" label="Concordance summary (false positive rate, etc.)"/> + <data name="out_discordant_bed" format="bed" label="Discordant call locations"/> + </outputs> + + <tests> + </tests> + + <help> +**What it does** + +This tool reports several statistics comparing the genotypes derived from a next-gen sequencing run to a microarray genotyping result +for the same individual. When coverage is good (10x for colorspace, 20x for base space), false positive and false negative rates should +be below 2%, assuming 99% accuracy of both the microarray and the NGS genotyping. + +------ + +** Example** + +The microarray file should have five columns (ProbeID, forward strand genotypes, dbSNP ID, chr, pos), e.g.:: + + #Comment lines... + Probe set header line + SNP_A-1780520 GG rs16994928 20 48440771 + SNP_A-1780985 AG rs3859360 18 34178190 + </help> + +</tool>