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installer/resources/core/RTGOperationsManual/rtg_command_reference.html

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@@ -69,10 +69,7 @@ <h3><a href="index.html">Table Of Contents</a></h3>
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<li><a class="reference internal" href="#sdf2fastq">sdf2fastq</a></li>
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<li><a class="reference internal" href="#sdf2sam">sdf2sam</a></li>
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<li><a class="reference internal" href="#fastqtrim">fastqtrim</a></li>
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<li><a class="reference internal" href="#petrim">petrim</a><ul>
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<li><a class="reference internal" href="#formatting-with-paired-end-trimming-on-the-fly">Formatting with paired-end trimming on the fly</a></li>
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</ul>
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</li>
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<li><a class="reference internal" href="#petrim">petrim</a></li>
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</ul>
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</li>
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<li><a class="reference internal" href="#read-mapping-commands">Read Mapping Commands</a><ul>
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</table>
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<table border="1" class="docutils">
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<colgroup>
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<col width="6%" />
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<col width="23%" />
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<col width="71%" />
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<col width="4%" />
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<col width="18%" />
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<col width="77%" />
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</colgroup>
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<thead valign="bottom">
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<tr class="row-odd"><th class="head" colspan="3">Filtering</th>
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<td>If a read ends up shorter than this threshold it will be trimmed to zero length (Default is 0)</td>
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</tr>
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<tr class="row-even"><td>&#160;</td>
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<td><code class="docutils literal"><span class="pre">--mismatch-adjustment=STRING</span></code></td>
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<td>Method used to alter bases/qualities at mismatches within overlap region. Allowed values are [none, zero-phred, pick-best] (Default is none)</td>
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</tr>
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<tr class="row-odd"><td>&#160;</td>
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<td><code class="docutils literal"><span class="pre">--right-probe-length=INT</span></code></td>
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<td>Assume R2 starts with probes this long, and trim R1 bases that overlap into this (Default is 0)</td>
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</tr>
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bases that overlap into the first 11 bases of the left arm. Similar
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trimming is available for situations where probes are ligated to the
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right arm by using <code class="docutils literal"><span class="pre">--right-probe-length</span></code>.</li>
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<li>Adjustment of mismatching read bases inside areas of overlap. Such
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mismatches indicate that one or other of the bases has been
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incorrectly sequenced. Alteration of these bases is selected by
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supplying the <code class="docutils literal"><span class="pre">--mismatch-adjustment</span></code> flag with a value of
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<code class="docutils literal"><span class="pre">zero-phred</span></code> to alter the phred quality score of both bases to zero,
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or <code class="docutils literal"><span class="pre">pick-best</span></code> to choose whichever base had the higher reported
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quality score.</li>
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<li>Removal of overlap regions by trimming both arms back to a point where
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no overlap is present. An equal number of bases are removed from each
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arm. This trimming is enabled by specifying <code class="docutils literal"><span class="pre">--midpoint-trim</span></code> and
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and <a class="reference external" href="https://en.wikipedia.org/wiki/Sensitivity_and_specificity">https://en.wikipedia.org/wiki/Sensitivity_and_specificity</a></p>
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</div>
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</div>
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<div class="section" id="benchmarking-performance-for-snps-vs-indels">
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<h4>Benchmarking performance for SNPs vs indels<a class="headerlink" href="#benchmarking-performance-for-snps-vs-indels" title="Permalink to this headline">¶</a></h4>
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<p>A common desire is to perform analysis separately for SNPs vs
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<div class="section" id="benchmarking-performance-for-snps-versus-indels">
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<h4>Benchmarking performance for SNPs versus indels<a class="headerlink" href="#benchmarking-performance-for-snps-versus-indels" title="Permalink to this headline">¶</a></h4>
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<p>A common desire is to perform analysis separately for SNPs versus
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indels. However, it is important to note that due the representation
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ambiguity problem, it is not always trivial to decide in a global sense
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whether a variant is a SNP or an indel or other complex variant. A group
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another), then at some level there is really a semantic difference
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between a &#8220;baseline indel&#8221; and a &#8220;call-set indel&#8221; (or &#8220;variant-caller-A
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indel&#8221; and &#8220;variant-caller-B indel&#8221;), so caution should be applied when
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making conclusions related to SNP vs indel accuracy.</p>
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making conclusions related to SNP versus indel accuracy.</p>
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<p>In the <code class="docutils literal"><span class="pre">snp_roc.tsv</span></code> and <code class="docutils literal"><span class="pre">non_snp_roc.tsv</span></code> output files, <code class="docutils literal"><span class="pre">vcfeval</span></code>
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notes the number of baseline and call variants of each variant
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type. When considering benchmarking metrics in the absence of any
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</table>
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<p><strong>Usage:</strong></p>
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<p>The <code class="docutils literal"><span class="pre">svdecompose</span></code> command is applied to a VCF containing structural
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variants and converts deletion, inversion, and tandem duplications with
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<code class="docutils literal"><span class="pre">SVTYPE</span></code> of <code class="docutils literal"><span class="pre">DEL</span></code>, <code class="docutils literal"><span class="pre">INV</span></code>, and <code class="docutils literal"><span class="pre">DUP</span></code>, respectively, into
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corresponding breakend events with <code class="docutils literal"><span class="pre">SVTYPE=BND</span></code>. <code class="docutils literal"><span class="pre">svdecompose</span></code> will
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also decompose sequence-resolved insertions and deletions greater than
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<code class="docutils literal"><span class="pre">--min-indel-length</span></code> into breakend representation. Records of others
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types are passed through without modification.</p>
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variants and converts deletion, insertion, inversion, and tandem
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duplications with <code class="docutils literal"><span class="pre">SVTYPE</span></code> of <code class="docutils literal"><span class="pre">DEL</span></code>, <code class="docutils literal"><span class="pre">INS</span></code>, <code class="docutils literal"><span class="pre">INV</span></code>, and
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<code class="docutils literal"><span class="pre">DUP</span></code>, respectively, into corresponding breakend events with
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<code class="docutils literal"><span class="pre">SVTYPE=BND</span></code>. <code class="docutils literal"><span class="pre">svdecompose</span></code> will also decompose sequence-resolved
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insertions and deletions greater than <code class="docutils literal"><span class="pre">--min-indel-length</span></code> into
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breakend representation. Records of others types are passed through
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without modification.</p>
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<p>This operation can be useful for the purposes of reducing output from
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various structural variant callers to a common representation to
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better facilitate comparison with the <code class="docutils literal"><span class="pre">bndeval</span></code> command.</p>
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<li>Additional ROC data files can be loaded by clicking on the &#8220;Open...&#8221;
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button, and multiple ROC data files within a directory can be loaded
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at once using multi-select.</li>
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<li>The &#8216;Cmd&#8217; button will open a message window that contains a
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<li>The &#8220;Cmd&#8221; button will open a message window that contains a
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command-line equivalent to the currently displayed set of curves. This
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command-line may be copy-pasted, providing an easy way to replicate
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the current set of curves in another session, generate a curve in a
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precision/sensitivity graph types.</li>
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</ul>
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<p>Each curve in the GUI has a customization widget on the right hand
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side of the UI that allows several operations:</p>
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side of the window that allows several operations:</p>
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<ul class="simple">
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<li>Rename the title used for the curve via the editable text.</li>
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<li>Temporarily hide/show the curve via selection checkbox.</li>

installer/resources/core/RTGOperationsManual/searchindex.js

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