Mercurial > repos > ahosny > cnvsim
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author | ahosny |
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date | Wed, 07 Sep 2016 09:32:46 -0400 |
parents | 12eb1e77bcfa |
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<tool id="cnvsim" name="Simulate CNV" version="0.9.2"> <description>in NGS short reads </description> <command interpreter="python" detect_errors="exit_code"> #if $type.simulation_type=="whole_genome" cnv-sim.py -n $number_of_reads -l $read_length -g $regions_count -a $amplifications_percentage -d $deletions_percentage -cn_min $minimum_copy_number -cn_max $maximum_copy_number -r_min $minimum_region_length -r_max $maximum_region_length genome $reference #else cnv-sim.py -n $number_of_reads -l $read_length -g $regions_count -a $amplifications_percentage -d $deletions_percentage -cn_min $minimum_copy_number -cn_max $maximum_copy_number -r_min $minimum_region_length -r_max $maximum_region_length exome $reference $target #end if </command> <inputs> <conditional name="type"> <param name="simulation_type" type="select" label="Simulation Type"> <option value="whole_genome">CNV Simulation in Whole Genome Sequencing</option> <option value="targeted_exome">CNV Simulation in Targeted Exome Sequencing</option> </param> <when value="whole_genome"> <param format="fasta" name="reference" type="data" label="Reference Genome" help="Reference genome to generate reads from"/> </when> <when value="targeted_exome"> <param format="fasta" name="reference" type="data" label="Reference Genome" help="Reference genome to generate reads from"/> <param format="bed" name="target" type="data" label="Target Regions" help="a list of exonic regions"/> </when> </conditional> <param name="number_of_reads" type="integer" value="100000" label="Number of Reads" help="determines the number of reads to be generated for the control and simulated CNV (approximately)"/> <param name="read_length" type="integer" value="100" label="Read Length (bp)" help="determines the read length fot the generated FASTQ files"/> <param name="regions_count" type="integer" value="30" label="Regions Count" help="determines how many randomly-generated regions will show CNVs"/> <param name="minimum_region_length" type="integer" value="1000" label="Minimum Region Length" help="Minimum length of each CNV region"/> <param name="maximum_region_length" type="integer" value="100000" label="Maximum Region Length" help="Minimum length of each CNV region"/> <param name="amplifications_percentage" type="float" value="0.5" label="Percentage of amplifications" help="determines what fraction of the regions will show amplifications (range: 0.0-1.0)"/> <param name="deletions_percentage" type="float" value="0.5" label="Percentage of deletions" help="determines what fraction of the regions will show deletions (range: 0.0-1.0)"/> <param name="minimum_copy_number" type="integer" value="3" label="Variation minimum" help="determines the minumum number of amplifications/deletions introduced in each region"/> <param name="maximum_copy_number" type="integer" value="10" label="Variation maximum" help="determines the maximum number of amplifications/deletions introduced in each region"/> </inputs> <outputs> <data format="bed" name="cnv_list" from_work_dir="simulation_output/copynumber.bed" label="CNV List from ${tool.name} on ${on_string}"/> <data format="fastq" name="control_1" from_work_dir="simulation_output/control_1.fastq" label="Control reads 1 from ${tool.name} on ${on_string}"/> <data format="fastq" name="control_2" from_work_dir="simulation_output/control_2.fastq" label="Control reads 2 from ${tool.name} on ${on_string}"/> <data format="fastq" name="cnv_1" from_work_dir="simulation_output/cnv_1.fastq" label="CNV reads 1 from ${tool.name} on ${on_string}"/> <data format="fastq" name="cnv_2" from_work_dir="simulation_output/cnv_2.fastq" label="CNV reads 2 from ${tool.name} on ${on_string}"/> </outputs> <help><![CDATA[ .. class:: infomark '''TIP''' This tool requires *fasta* format. ---- **CNV Simulator** In genomics, Copy Number Variations (CNVs) is a type of structural variation in a genome where sections of the genome are duplicated or deleted. The number of variations (duplications/deletions) varies between individuals in the human population. The Copy Number Variation Simulator (CNV-Sim) is a simulation tool that extends the functionality of existing next-generation sequencing read simulators to introduce copy number variations in the generated reads. The resulting reads encompass amplifications as well as deletions according to a predefined list of variant regions. CNV-Sim aids testing and benchmarking tools for copy number variation detection and analysis. The tool offers two types of simulation: CNV-Sim offers two types of simulation: 1. CNV simulation in whole genome. CNV-Sim utilizes the functionality of ART to introduce variations in the genome. 2. CNV simulation in targeted exome. CNV-Sim utilizes the functionality of Wessim to introduce variations in the targets. Homepage: http://nabavilab.github.io/CNV-Sim/ ]]></help> </tool>