comparison basil.xml @ 0:e6ef29001647 draft

planemo upload commit b89c8017aeef91f940543a1cc7dadb4a85290865

0:e6ef29001647

<tool id="basil" name="basil" version="1.2.0">
    <description>Breakpoint detection, including large insertions</description>
    <requirements>
        <requirement type="package" version="1.2.0">anise_basil</requirement>
    </requirements>
    <version_command>basil --version 2>&amp;1 | grep 'basil version' | cut -f 3 -d ' '</version_command>
    <command detect_errors="aggressive"><![CDATA[
        ln -s '$ref' 'ref.fa' &&
        ln -s '$bam' 'in.bam' &&
        ln -s '$vcf' 'out.vcf' &&
        basil
        --input-reference 'ref.fa'
        --input-mapping 'in.bam'
        --out-vcf 'out.vcf'
        --oea-min-support-each-side '$min_oea_each_side'
    ]]></command>
    <inputs>
        <param name="ref" argument="--input-reference" type="data" format="Fasta" label="Reference Sequence File" help="FASTA file with the reference."/>
        <param name="bam" argument="--input-mapping" type="data" format="sam,bam" label="Alignment File" help="SAM/BAM file to use as the input."/>
        <param name="min_oea_each_side" argument="--oea-min-support-each-side" type="integer" value="2" label="Minimum supporting reads, each side" help="Smallest number of OEA (one-end-anchor) reads on each side to support an insertion.  In range [1..inf].  This is the minimum number of supporting reads (without mapped partners) on each side of an insertion breakpoint required to not be filtered." />
    </inputs>
    <outputs>
        <data name="vcf" format="vcf" />
    </outputs>
    <tests>
        <test>
            <param name="ref" value="ref.fa"/>
            <param name="bam" value="simulated.bam"/>
            <param name="min_oea_each_side"  value="2"/>
            <output name="vcf" file="basil.vcf"/>
        </test>
    </tests>
    <help><![CDATA[
        BASIL is a method to detect breakpoints for structural variants (including insertion breakpoints) from aligned paired HTS reads in BAM format.  Use BASIL to analyze BAM files for tentative insertion sites.

        Note that BASIL will in general detect all kinds of breakpoints, e.g. for inversions on real-world data.

        BASIL VCF fields

        A typical line in BASIL might look as follows.

        1 5001 site_0 T <INS>   . PASS IMPRECISE;SVTYPE=INS GSCORE:CLEFT:CRIGHT:OEALEFT:OEARIGHT    46.4256:10:12:35:32

        The first seven columns are as usually in VCF files (ref name, 1-based position, reference base, abbreviation for long insertion, no assigned quality, passing all filters, imprecise insertion SV).

        The eighth column contains the names of the score values given in the ninth column:

        GSCORE Geometric mean of the sum of "1 + $score" for all of the following scores.
        CLEFT Number of clipping signatures supporting the site from the left side.
        CRIGHT Number of clipping signatures supporting the site from the right side.
        OEALEFT Number of OEA alignments supporting the site from the left.
        OEARIGHT Number of OEA alignmetns supproting the site from the right.

        Generally, one should filter for a minimum support of OEA records on each side, e.g. a value of 10 makes sense for a 30x coverage and showed good results on simulated data.

        For a ranking, GSCORE is a suitable measure but we did not develop any statistical model for BASIL matches and it is a mean of pseudocounts only. It carries no statistically precise meaning.
    ]]></help>
    <citations>
        <citation type="doi">10.1093/bioinformatics/btv051</citation>
    </citations>
</tool>