diff MicroarrayReports.xml @ 0:882d119ede1f default tip

initial commit
author Yusuf Ali <ali@yusuf.email>
date Wed, 25 Mar 2015 13:40:00 -0600
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+++ b/MicroarrayReports.xml	Wed Mar 25 13:40:00 2015 -0600
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+<?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>