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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/4288?offset=100</link>
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	<description><![CDATA[]]></description>
	
	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37527/nanopack-visualizing-and-processing-long-read-sequencing-data</guid>
	<pubDate>Fri, 10 Aug 2018 18:41:34 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37527/nanopack-visualizing-and-processing-long-read-sequencing-data</link>
	<title><![CDATA[NanoPack: visualizing and processing long-read sequencing data]]></title>
	<description><![CDATA[<p>The NanoPack tools are written in Python3 and released under the GNU GPL3.0 License. The source code can be found at&nbsp;<a href="https://github.com/wdecoster/nanopack" target="">https://github.com/wdecoster/nanopack</a>, together with links to separate scripts and their documentation. The scripts are compatible with Linux, Mac OS and the MS Windows 10 subsystem for Linux and are available as a graphical user interface, a web service at&nbsp;<a href="http://nanoplot.bioinf.be/" target="">http://nanoplot.bioinf.be</a>&nbsp;and command line tools.</p>
<p>&nbsp;https://academic.oup.com/bioinformatics/article/34/15/2666/4934939</p><p>Address of the bookmark: <a href="https://github.com/wdecoster/nanoQC" rel="nofollow">https://github.com/wdecoster/nanoQC</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37674/qualimap2-evaluating-next-generation-sequencing-alignment-data</guid>
	<pubDate>Tue, 11 Sep 2018 04:44:29 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37674/qualimap2-evaluating-next-generation-sequencing-alignment-data</link>
	<title><![CDATA[Qualimap2: Evaluating next generation sequencing alignment data]]></title>
	<description><![CDATA[<p><strong>Qualimap 2</strong><span>&nbsp;is a platform-independent application written in Java and R that provides both a Graphical User Inteface (GUI) and a command-line interface to facilitate the quality control of alignment sequencing data and its derivatives like feature counts.&nbsp;</span><br><br><span>Supported types of experiments include:</span></p>
<ul>
<li>Whole-genome sequencing</li>
<li>Whole-exome sequencing</li>
<li>RNA-seq (speical mode available)</li>
<li>ChIP-seq</li>
</ul><p>Address of the bookmark: <a href="http://qualimap.bioinfo.cipf.es/" rel="nofollow">http://qualimap.bioinfo.cipf.es/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38169/amstat-display-statistics-of-large-sequence-files-from-next-generation-sequencing-projects</guid>
	<pubDate>Fri, 09 Nov 2018 13:34:56 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38169/amstat-display-statistics-of-large-sequence-files-from-next-generation-sequencing-projects</link>
	<title><![CDATA[AMStat: display statistics of large sequence files from next generation sequencing projects]]></title>
	<description><![CDATA[<p><span>SAMStat is an efficient C program to quickly display statistics of large sequence files from next generation sequencing projects. When applied to&nbsp;</span><a href="http://samstat.sourceforge.net/#about">SAM/BAM</a><span>&nbsp;files all statistics are reported for unmapped, poorly and accurately mapped reads separately. This allows for identification of a variety of problems, such as remaining linker and adaptor sequences, causing poor mapping. Apart from this SAMStat can be used to verify individual processing steps in large analysis pipelines.</span></p><p>Address of the bookmark: <a href="http://samstat.sourceforge.net/" rel="nofollow">http://samstat.sourceforge.net/</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38593/excavator-detecting-copy-number-variants-from-whole-exome-sequencing-data</guid>
	<pubDate>Fri, 04 Jan 2019 10:10:48 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38593/excavator-detecting-copy-number-variants-from-whole-exome-sequencing-data</link>
	<title><![CDATA[EXCAVATOR: detecting copy number variants from whole-exome sequencing data]]></title>
	<description><![CDATA[<p><span>EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies genomic regions into five copy number states. We validate EXCAVATOR on three datasets and compare the results with three other methods. These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics. EXCAVATOR is freely available at&nbsp;</span><span><a href="http://sourceforge.net/projects/excavatortool/" target="_blank"><span>http://sourceforge.net/projects/excavatortool/</span></a></span><span>.</span><br><br><br><span>EXCAVATOR is a novel software package for the detection of copy number variants (CNVs) from whole-exome sequencing data.</span><br><span>EXCAVATOR has been published on Genome Biology (</span><a href="http://genomebiology.com/2013/14/10/R120/abstract" target="_blank">http://genomebiology.com/2013/14/10/R120/abstract<span></span></a><span>).</span></p><p>Address of the bookmark: <a href="https://sourceforge.net/projects/excavatortool/" rel="nofollow">https://sourceforge.net/projects/excavatortool/</a></p>]]></description>
	<dc:creator>Radha Agarkar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39671/flye-fast-and-accurate-de-novo-assembler-for-single-molecule-sequencing-reads</guid>
	<pubDate>Sat, 06 Jul 2019 03:48:22 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39671/flye-fast-and-accurate-de-novo-assembler-for-single-molecule-sequencing-reads</link>
	<title><![CDATA[Flye: Fast and accurate de novo assembler for single molecule sequencing reads]]></title>
	<description><![CDATA[<p><span>Flye is a de novo assembler for single molecule sequencing reads, such as those produced by PacBio and Oxford Nanopore Technologies. It is designed for a wide range of datasets, from small bacterial projects to large mammalian-scale assemblies. The package represents a complete pipeline: it takes raw PB / ONT reads as input and outputs polished contigs. Flye also includes a special mode for metagenome assembly.</span></p><p>Address of the bookmark: <a href="https://github.com/fenderglass/Flye" rel="nofollow">https://github.com/fenderglass/Flye</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40544/ngs-bits-short-read-sequencing-tools</guid>
	<pubDate>Thu, 16 Jan 2020 23:14:00 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40544/ngs-bits-short-read-sequencing-tools</link>
	<title><![CDATA[ngs-bits - Short-read sequencing tools]]></title>
	<description><![CDATA[<p>Binaries of&nbsp;<em>ngs-bits</em>&nbsp;are available via Bioconda. Alternatively,&nbsp;<em>ngs-bits</em>&nbsp;can be built from sources:</p>
<ul>
<li><span>Binaries</span>&nbsp;for&nbsp;<a href="https://github.com/imgag/ngs-bits/blob/master/doc/install_bioconda.md">Linux/macOS</a></li>
<li>From&nbsp;<span>sources</span>&nbsp;for&nbsp;<a href="https://github.com/imgag/ngs-bits/blob/master/doc/install_unix.md">Linux/macOS</a></li>
<li>From&nbsp;<span>sources</span>&nbsp;for&nbsp;<a href="https://github.com/imgag/ngs-bits/blob/master/doc/install_win.md">Windows</a></li>
</ul><p>Address of the bookmark: <a href="https://github.com/imgag/ngs-bits" rel="nofollow">https://github.com/imgag/ngs-bits</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41046/iseqqc-a-tool-for-expression-based-quality-control-in-rna-sequencing</guid>
	<pubDate>Sun, 16 Feb 2020 08:47:17 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41046/iseqqc-a-tool-for-expression-based-quality-control-in-rna-sequencing</link>
	<title><![CDATA[iSeqQC: a tool for expression-based quality control in RNA sequencing]]></title>
	<description><![CDATA[<p><span>iSeqQC, an expression-based QC tool that detects outliers either produced due to variable laboratory conditions or due to dissimilarity within a phenotypic group. iSeqQC implements various statistical approaches including unsupervised clustering, agglomerative hierarchical clustering and correlation coefficients to provide insight into outliers.</span></p>
<p><a href="http://cancerwebpa.jefferson.edu/iSeqQC/">http://cancerwebpa.jefferson.edu/iSeqQC/</a></p>
<p><a href="https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-020-3399-8">https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-020-3399-8</a></p><p>Address of the bookmark: <a href="https://github.com/gkumar09/iSeqQC" rel="nofollow">https://github.com/gkumar09/iSeqQC</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42826/ktrim-an-extra-fast-and-accurate-adapter-and-quality-trimmer-for-sequencing-data</guid>
	<pubDate>Thu, 11 Feb 2021 21:39:05 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42826/ktrim-an-extra-fast-and-accurate-adapter-and-quality-trimmer-for-sequencing-data</link>
	<title><![CDATA[Ktrim: an extra-fast and accurate adapter- and quality-trimmer for sequencing data]]></title>
	<description><![CDATA[<p>Ktrim&nbsp;is written in&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">C++</code>&nbsp;for GNU Linux/Unix platforms. After uncompressing the source package, you can find an executable file&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">ktrim</code>&nbsp;under&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">bin/</code>&nbsp;directory compiled using&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">g++ v4.8.5</code>&nbsp;and linked with&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libz v1.2.7</code>&nbsp;for Linux x86_64 system. If you could not run it (which is usually caused by low version of&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libc++</code>&nbsp;or&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libz</code>&nbsp;library) or you want to build a version optimized for your system, you can re-compile the programs:</p>
<p>user@linux$ make clean &amp;&amp; make</p><p>Address of the bookmark: <a href="https://github.com/hellosunking/Ktrim" rel="nofollow">https://github.com/hellosunking/Ktrim</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34443/opera-an-optimal-genome-scaffolding-program</guid>
	<pubDate>Mon, 27 Nov 2017 10:18:20 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34443/opera-an-optimal-genome-scaffolding-program</link>
	<title><![CDATA[Opera: An optimal genome scaffolding program]]></title>
	<description><![CDATA[<p><span>Opera (Optimal Paired-End Read Assembler) is a sequence assembly program (</span><a href="http://en.wikipedia.org/wiki/Sequence_assembly" target="_blank">http://en.wikipedia.org/wiki/Sequence_assembly&nbsp;<img src="https://a.fsdn.com/con/img/icons/external_asset.png" alt="image" style="border: 0px;"></a><span>). It uses information from paired-end or long reads to optimally order and orient contigs assembled from shotgun-sequencing reads.</span><br><br><span>An updated version called OPERA-LG has been re-engineered with features for the assembly of large and complex genomes.</span><br><br><span>Song Gao, Denis Bertrand, Burton K. H. Chia and Niranjan Nagarajan. OPERA-LG: efficient and exact scaffolding of large, repeat-rich eukaryotic genomes with performance guarantees. Genome Biology, May 2016, doi: 10.1186/s13059-016-0951-y.</span><br><br><span>Song Gao, Wing-Kin Sung, Niranjan Nagarajan. Opera: reconstructing optimal genomic scaffolds with high-throughput paired-end sequences. Journal of Computational Biology, Sept. 2011, doi:10.1089/cmb.2011.0170.</span></p>
<p><span>https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0951-y</span></p><p>Address of the bookmark: <a href="https://sourceforge.net/projects/operasf/" rel="nofollow">https://sourceforge.net/projects/operasf/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/34418/spades-hybrid-genome-assembly</guid>
	<pubDate>Mon, 27 Nov 2017 08:05:40 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/34418/spades-hybrid-genome-assembly</link>
	<title><![CDATA[SPAdes hybrid genome assembly]]></title>
	<description><![CDATA[<p>When you have both Illumina and Nanopore data, then SPAdes remains a good option for hybrid assembly - SPAdes was used to produce the&nbsp;<a href="https://gigascience.biomedcentral.com/articles/10.1186/s13742-015-0101-6">B fragilis assembly</a>&nbsp;by Mick Watson&rsquo;s group.</p><p>Again, running spades.py will show you the options:</p><div><pre><code>spades.py
</code></pre></div><p>This produces:</p><div><pre><code>SPAdes genome assembler v3.10.1

Usage: /usr/local/SPAdes-3.10.1-Linux/bin/spades.py [options] -o &lt;output_dir&gt;

Basic options:
-o      &lt;output_dir&gt;    directory to store all the resulting files (required)
--sc                    this flag is required for MDA (single-cell) data
--meta                  this flag is required for metagenomic sample data
--rna                   this flag is required for RNA-Seq data
--plasmid               runs plasmidSPAdes pipeline for plasmid detection
--iontorrent            this flag is required for IonTorrent data
--test                  runs SPAdes on toy dataset
-h/--help               prints this usage message
-v/--version            prints version

Input data:
--12    &lt;filename&gt;      file with interlaced forward and reverse paired-end reads
-1      &lt;filename&gt;      file with forward paired-end reads
-2      &lt;filename&gt;      file with reverse paired-end reads
-s      &lt;filename&gt;      file with unpaired reads
--pe&lt;#&gt;-12      &lt;filename&gt;      file with interlaced reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--pe&lt;#&gt;-1       &lt;filename&gt;      file with forward reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--pe&lt;#&gt;-2       &lt;filename&gt;      file with reverse reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--pe&lt;#&gt;-s       &lt;filename&gt;      file with unpaired reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--pe&lt;#&gt;-&lt;or&gt;    orientation of reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9; &lt;or&gt; = fr, rf, ff)
--s&lt;#&gt;          &lt;filename&gt;      file with unpaired reads for single reads library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-12      &lt;filename&gt;      file with interlaced reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-1       &lt;filename&gt;      file with forward reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-2       &lt;filename&gt;      file with reverse reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-s       &lt;filename&gt;      file with unpaired reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-&lt;or&gt;    orientation of reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9; &lt;or&gt; = fr, rf, ff)
--hqmp&lt;#&gt;-12    &lt;filename&gt;      file with interlaced reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--hqmp&lt;#&gt;-1     &lt;filename&gt;      file with forward reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--hqmp&lt;#&gt;-2     &lt;filename&gt;      file with reverse reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--hqmp&lt;#&gt;-s     &lt;filename&gt;      file with unpaired reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--hqmp&lt;#&gt;-&lt;or&gt;  orientation of reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9; &lt;or&gt; = fr, rf, ff)
--nxmate&lt;#&gt;-1   &lt;filename&gt;      file with forward reads for Lucigen NxMate library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--nxmate&lt;#&gt;-2   &lt;filename&gt;      file with reverse reads for Lucigen NxMate library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--sanger        &lt;filename&gt;      file with Sanger reads
--pacbio        &lt;filename&gt;      file with PacBio reads
--nanopore      &lt;filename&gt;      file with Nanopore reads
--tslr  &lt;filename&gt;      file with TSLR-contigs
--trusted-contigs       &lt;filename&gt;      file with trusted contigs
--untrusted-contigs     &lt;filename&gt;      file with untrusted contigs

Pipeline options:
--only-error-correction runs only read error correction (without assembling)
--only-assembler        runs only assembling (without read error correction)
--careful               tries to reduce number of mismatches and short indels
--continue              continue run from the last available check-point
--restart-from  &lt;cp&gt;    restart run with updated options and from the specified check-point ('ec', 'as', 'k&lt;int&gt;', 'mc')
--disable-gzip-output   forces error correction not to compress the corrected reads
--disable-rr            disables repeat resolution stage of assembling

Advanced options:
--dataset       &lt;filename&gt;      file with dataset description in YAML format
-t/--threads    &lt;int&gt;           number of threads
                                [default: 16]
-m/--memory     &lt;int&gt;           RAM limit for SPAdes in Gb (terminates if exceeded)
                                [default: 250]
--tmp-dir       &lt;dirname&gt;       directory for temporary files
                                [default: &lt;output_dir&gt;/tmp]
-k              &lt;int,int,...&gt;   comma-separated list of k-mer sizes (must be odd and
                                less than 128) [default: 'auto']
--cov-cutoff    &lt;float&gt;         coverage cutoff value (a positive float number, or 'auto', or 'off') [default: 'off']
--phred-offset  &lt;33 or 64&gt;      PHRED quality offset in the input reads (33 or 64)
                                [default: auto-detect]
</code></pre></div><p>As you can see this is also a &ldquo;pipeline&rdquo; of tools that can be switched on or off. SPAdes takes quite a long time, so for the purposes of this practical, something like this may suffice:</p><div><pre><code>spades.py -t 4 <span>\</span>
          -m 32 <span>\</span>
          -k 31,51,71 <span>\</span>
          --only-assembler <span>\</span>
          -1 miseq.1.fastq -2 miseq.2.fastq <span>\</span>
          --nanopore minion.fastq <span>\</span>
          -o hybrid_assembly
</code></pre></div><p>In turn, these parameters mean</p><ul>
<li>use 4 threads</li>
<li>max memory is 32Gb</li>
<li>use 3 kmer values to build the de bruijn graph(s) - 31, 51 and 71</li>
<li>only run the assembler, not the correction algorithm (for speed)</li>
<li>read 1 and read 2 of the MiSeq data</li>
<li>the nanopore data</li>
<li>put the output in folder &ldquo;hybrid_assembly&rdquo;</li>
</ul>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

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