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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/45358?offset=300</link>
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	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37512/purecn-copy-number-calling-and-snv-classification-using-targeted-short-read-sequencing</guid>
	<pubDate>Thu, 09 Aug 2018 04:09:37 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37512/purecn-copy-number-calling-and-snv-classification-using-targeted-short-read-sequencing</link>
	<title><![CDATA[PureCN: copy number calling and SNV classification using targeted short read sequencing]]></title>
	<description><![CDATA[<p>This package estimates tumor purity, copy number, and loss of heterozygosity (LOH), and classifies single nucleotide variants (SNVs) by somatic status and clonality. PureCN is designed for targeted short read sequencing data, integrates well with standard somatic variant detection and copy number pipelines, and has support for tumor samples without matching normal samples.</p>
<p>Author: Markus Riester [aut, cre], Angad P. Singh [aut]</p>
<p>Maintainer: Markus Riester &lt;markus.riester at novartis.com&gt;</p>
<div id="bioc_citation_outer">
<p>Citation (from within R, enter&nbsp;<code>citation("PureCN")</code>):</p>
<div id="bioc_citation">
<p>Riester M, Singh A, Brannon A, Yu K, Campbell C, Chiang D, Morrissey M (2016). &ldquo;PureCN: Copy number calling and SNV classification using targeted short read sequencing.&rdquo;&nbsp;<em>Source Code for Biology and Medicine</em>,&nbsp;<strong>11</strong>, 13. doi:&nbsp;<a href="http://doi.org/10.1186/s13029-016-0060-z">10.1186/s13029-016-0060-z</a>.</p>
</div>
</div><p>Address of the bookmark: <a href="http://bioconductor.org/packages/release/bioc/html/PureCN.html" rel="nofollow">http://bioconductor.org/packages/release/bioc/html/PureCN.html</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37643/lorma-a-tool-for-correcting-sequencing-errors-in-long-reads</guid>
	<pubDate>Thu, 06 Sep 2018 16:21:01 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37643/lorma-a-tool-for-correcting-sequencing-errors-in-long-reads</link>
	<title><![CDATA[LoRMA: A tool for correcting sequencing errors in long reads]]></title>
	<description><![CDATA[<p><span>An error correction method that uses long reads only. The method consists of two phases: first, we use an iterative alignment-free correction method based on de Bruijn graphs with increasing length of&nbsp;</span><em>k</em><span>-mers, and second, the corrected reads are further polished using long-distance dependencies that are found using multiple alignments. According to our experiments, the proposed method is the most accurate one relying on long reads only for read sets with high coverage. Furthermore, when the coverage of the read set is at least 75&times;, the throughput of the new method is at least 20% higher.</span></p>
<blockquote>
<p><span>conda install -c atgc-montpellier lorma</span></p>
</blockquote><p>Address of the bookmark: <a href="https://gite.lirmm.fr/lorma/lorma-releases/wikis/home" rel="nofollow">https://gite.lirmm.fr/lorma/lorma-releases/wikis/home</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/39827/prof-dr-med-andreas-ramming</guid>
  <pubDate>Wed, 07 Aug 2019 03:25:48 -0500</pubDate>
  <link></link>
  <title><![CDATA[Prof. Dr. med. Andreas Ramming]]></title>
  <description><![CDATA[
<p>In many autoimmune diseases, a misdirected immune response leads to chronic inflammation and subsequently to fibrotic and degenerative tissue remodeling. Therapeutic options are available for inflammatory joint diseases, but only about 40% of patients respond to these existing therapies on a permanent basis. In the remaining cases, these therapies miss their target from the beginning or later during the course of treatment failure. There are currently no causal therapies available for the treatment of fibrotic autoimmune diseases such as systemic sclerosis. Therefore, there is an urgent need to develop new therapeutic options for the treatment of fibrotic and synovitic autoimmune diseases. His group is therefore deal with the molecular mechanisms of these misdirected signaling pathways for the development of novel, targeted therapies</p>

<p>http://www.medizin3.uk-erlangen.de/forschung/arbeitsgruppen/matrixbiologie-entzuendliche-signalwege-in-arthritis-und-fibrose/</p>
]]></description>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/41039/phd-position-in-translational-medicine</guid>
  <pubDate>Sat, 15 Feb 2020 06:07:19 -0600</pubDate>
  <link></link>
  <title><![CDATA[PhD position in Translational Medicine]]></title>
  <description><![CDATA[
<p>https://www.jobvector.de/jobs-stellenangebote/biologie-life-sciences/wissenschaftliche-r-mitarbeiter-in/phd-position-translational-medicine-129981.html?suid=1b510358c7578e8f75cf04a464fc21a404a574ca</p>

<p>Essential experience / qualifications:<br />Master / Diploma in Biology, Biochemistry, Molecular Medicine or similar; solid knowledge of molecular and cell biological techniques; good English knowledge</p>

<p>Applications:<br />Please send your application (including CV, letter of motivation, contact information of two references, and list of publication) by 13.03.2020 at the latest to:</p>

<p>Universitätsklinikum Erlangen<br />Chirurgische Klinik<br />Translational Research Center<br />Prof. Dr. rer. nat. Michael Stürzl<br />Schwabachanlage 12<br />91054 Erlangen<br />E-Mail: michael.stuerzl@uk-erlangen.de</p>
]]></description>
</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/40460/sviper-swipe-your-structural-variants-called-on-long-ontpacbio-reads-with-short-exact-illumina-reads</guid>
	<pubDate>Sun, 22 Dec 2019 03:48:28 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40460/sviper-swipe-your-structural-variants-called-on-long-ontpacbio-reads-with-short-exact-illumina-reads</link>
	<title><![CDATA[SViper: Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.]]></title>
	<description><![CDATA[<p>Call sviper</p>
<pre><code>~$ ./sviper -s short-reads.bam -l long-reads.bam -r ref.fa -c variants.vcf -o polished_variants
</code></pre>
<p>This will output a&nbsp;<code>polished_variants.vcf</code>&nbsp;file, that contains all the refined variants.</p>
<p>Sometimes it is helpful to look at the polished sequence, e.g. with the IGV browser. In that case you want SViper to output the polished and aligned sequences in a bam file via the option&nbsp;<code>--output-polished-bam</code>:</p>
<pre><code>~$ ./sviper -s short-reads.bam -l long-reads.bam -r ref.fa -c variants.vcf -o polished_variants --output-</code>polished-bam</pre><p>Address of the bookmark: <a href="https://github.com/smehringer/SViper" rel="nofollow">https://github.com/smehringer/SViper</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38755/svaba-genome-wide-detection-of-structural-variants-and-indels-by-local-assembly</guid>
	<pubDate>Mon, 21 Jan 2019 17:58:56 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38755/svaba-genome-wide-detection-of-structural-variants-and-indels-by-local-assembly</link>
	<title><![CDATA[SvABA: Genome-wide detection of structural variants and indels by local assembly]]></title>
	<description><![CDATA[<p><span>SvABA is a method for detecting structural variants in sequencing data using genome-wide local assembly. Under the hood, SvABA uses a custom implementation of&nbsp;</span><a href="https://github.com/jts/sga">SGA</a><span>&nbsp;(String Graph Assembler) by Jared Simpson, and&nbsp;</span><a href="https://github.com/lh3/bwa">BWA-MEM</a><span>&nbsp;by Heng Li. Contigs are assembled for every 25kb window (with some small overlap) for every region in the genome. The default is to use only clipped, discordant, unmapped and indel reads, although this can be customized to any set of reads at the command line using&nbsp;</span><a href="https://github.com/walaj/VariantBam">VariantBam</a><span>&nbsp;rules. These contigs are then immediately aligned to the reference with BWA-MEM and parsed to identify variants. Sequencing reads are then realigned to the contigs with BWA-MEM, and variants are scored by their read support.</span></p><p>Address of the bookmark: <a href="https://github.com/walaj/svaba" rel="nofollow">https://github.com/walaj/svaba</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</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>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34528/cope-an-accurate-k-mer-based-pair-end-reads-connection-tool-to-facilitate-genome-assembly</guid>
	<pubDate>Wed, 06 Dec 2017 02:08:14 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34528/cope-an-accurate-k-mer-based-pair-end-reads-connection-tool-to-facilitate-genome-assembly</link>
	<title><![CDATA[COPE: an accurate k-mer-based pair-end reads connection tool to facilitate genome assembly]]></title>
	<description><![CDATA[<p><span>An efficient tool called Connecting Overlapped Pair-End (COPE) reads, to connect overlapping pair-end reads using k-mer frequencies. We evaluated our tool on 30&times; simulated pair-end reads from Arabidopsis thaliana with 1% base error. COPE connected over 99% of reads with 98.8% accuracy, which is, respectively, 10 and 2% higher than the recently published tool FLASH. When COPE is applied to real reads for genome assembly, the resulting contigs are found to have fewer errors and give a 14-fold improvement in the N50 measurement when compared with the contigs produced using unconnected reads.</span></p><p>Address of the bookmark: <a href="ftp://ftp.genomics.org.cn/pub/cope" rel="nofollow">ftp://ftp.genomics.org.cn/pub/cope</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

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