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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/34569?offset=330</link>
	<atom:link href="https://bioinformaticsonline.com/related/34569?offset=330" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40546/clincnv-detection-of-copy-number-changes-in-germlinetriosomatic-contexts-in-ngs-data</guid>
	<pubDate>Thu, 16 Jan 2020 23:16:02 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40546/clincnv-detection-of-copy-number-changes-in-germlinetriosomatic-contexts-in-ngs-data</link>
	<title><![CDATA[ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data]]></title>
	<description><![CDATA[<p><span>ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it makes sense to try&nbsp;</span><code>ClinCNV</code><span>&nbsp;if you have more than 10 samples (recommended amount - 40 since we estimate variances from the data). By "cohort" we mean samples sequenced with the same enrichment kit with approximately the same depth (ie 1x WGS and 30x WGS better be analysed in separate runs of ClinCNV). Of course it is better if your samples were sequenced within the same sequencing facility.</span></p><p>Address of the bookmark: <a href="https://github.com/imgag/ClinCNV" rel="nofollow">https://github.com/imgag/ClinCNV</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/42299/platypus-%E2%80%93-r-package-for-object-detection-and-image-segmentation</guid>
	<pubDate>Mon, 09 Nov 2020 02:56:25 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42299/platypus-%E2%80%93-r-package-for-object-detection-and-image-segmentation</link>
	<title><![CDATA[Platypus – R package for object detection and image segmentation.]]></title>
	<description><![CDATA[<p><a href="https://github.com/maju116/platypus" target="_blank">platypus</a>&nbsp;is an R package for object detection and semantic segmentation. Currently using&nbsp;</p>
<div>platypus&nbsp;you can perform:</div>
<ul>
<li>multi-class semantic segmentation using&nbsp;U-Net&nbsp;architecture</li>
<li>multi-class object detection using&nbsp;YOLOv3&nbsp;architecture</li>
</ul>
<p>You can install the latest version of&nbsp;platypus&nbsp;with&nbsp;remotes&nbsp;package:</p>
<div>
<div>
<div>
<div>remotes::install_github("maju116/platypus")</div>
</div>
</div>
</div>
<p>Note that in order to install&nbsp;platypus&nbsp;you need to install&nbsp;keras&nbsp;and&nbsp;tensorflow&nbsp;packages and&nbsp;Tensorflow&nbsp;version&nbsp;&gt;= 2.0.0&nbsp;(&nbsp;Tensorflow 1.x&nbsp;will not be supported!)</p><p>Address of the bookmark: <a href="https://github.com/maju116/platypus" rel="nofollow">https://github.com/maju116/platypus</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/4590/tigers-genome-sequenced</guid>
	<pubDate>Tue, 17 Sep 2013 16:48:24 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/4590/tigers-genome-sequenced</link>
	<title><![CDATA[Tigers genome sequenced]]></title>
	<description><![CDATA[<p>Fifteen scientists led by Dr Jong Bhak of Genome Research Foundation, South Korea, decoded as many as 3 billion nucleotides (organic molecules that form the basic building blocks of nucleic acids, such as DNA). They identified 20,000 genes related to various functions of the tiger.&nbsp;</p><p>The biggest and perhaps most fearsome of the world's big cats, the tiger, shares 95.6 percent of its DNA with humans' cute and furry companions, domestic cats.</p><p>The new research showed that big cats have genetic mutations that enabled them to be carnivores. The team also identified mutations that allow snow leopards to thrive at high altitudes.</p><p>Reference:</p><p><a href="http://www.nbcnews.com/science/your-cat-ferocious-tigers-share-lot-95-6-percent-their-4B11182690">http://www.nbcnews.com/science/your-cat-ferocious-tigers-share-lot-95-6-percent-their-4B11182690</a></p><p><a href="http://timesofindia.indiatimes.com/home/environment/flora-fauna/Gene-mapping-of-tiger-completed/articleshow/22671681.cms">http://timesofindia.indiatimes.com/home/environment/flora-fauna/Gene-mapping-of-tiger-completed/articleshow/22671681.cms</a></p><p>Paper:</p><p><a href="http://www.nature.com/ncomms/2013/130917/ncomms3433/full/ncomms3433.html">http://www.nature.com/ncomms/2013/130917/ncomms3433/full/ncomms3433.html</a></p>]]></description>
	<dc:creator>Rahul Agarwal</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/34567/jobtree-based-python-wrapper-to-run-the-genome-simulation-tool-suite-evolver</guid>
	<pubDate>Fri, 08 Dec 2017 16:26:32 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34567/jobtree-based-python-wrapper-to-run-the-genome-simulation-tool-suite-evolver</link>
	<title><![CDATA[jobTree based python wrapper to run the genome simulation tool suite Evolver]]></title>
	<description><![CDATA[<p><span>evolverSimControl</span><span>&nbsp;(</span><span>eSC</span><span>) can be used to simulate multi-chromosome genome evolution on an arbitrary phylogeny (</span><a href="http://evolution.genetics.washington.edu/phylip/newicktree.html">Newick format</a><span>). In addition to simply running evolver,&nbsp;</span><span>eSC</span><span>&nbsp;also automatically creates statistical summaries of the simulation as it runs including text and image files. Also included are convenience scripts to: check on a running simulation and see detailed status and logging information; extract fasta sequence files from the leaf nodes of a completed simulation; extract pairwise multiple alignment files (</span><a href="http://genome.ucsc.edu/FAQ/FAQformat.html#format5">.maf</a><span>) from leaf and branch nodes from a completed simulation and with the help of&nbsp;</span><a href="https://github.com/dentearl/mafTools/">mafJoin</a><span>, join them together into a single maf covering the entire simulation.</span></p><p>Address of the bookmark: <a href="https://github.com/dentearl/evolverSimControl" rel="nofollow">https://github.com/dentearl/evolverSimControl</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34867/magic-blast-a-tool-for-mapping-large-next-generation-rna-or-dna-sequencing-runs-against-a-whole-genome-or-transcriptome</guid>
	<pubDate>Tue, 26 Dec 2017 22:23:39 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34867/magic-blast-a-tool-for-mapping-large-next-generation-rna-or-dna-sequencing-runs-against-a-whole-genome-or-transcriptome</link>
	<title><![CDATA[Magic-BLAST: a tool for mapping large next-generation RNA or DNA sequencing runs against a whole genome or transcriptome.]]></title>
	<description><![CDATA[<p>Magic-BLAST is a tool for mapping large next-generation RNA or DNA sequencing runs against a whole genome or transcriptome. Each alignment optimizes a composite score, taking into account simultaneously the two reads of a pair, and in case of RNA-seq, locating the candidate introns and adding up the score of all exons. This is very different from other versions of BLAST, where each exon is scored as a separate hit and read-pairing is ignored.</p>
<p>Magic-BLAST incorporates within the NCBI BLAST code framework ideas developed in the NCBI Magic pipeline, in particular hit extensions by local walk and jump&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/26109056">(http://www.ncbi.nlm.nih.gov/pubmed/26109056)</a>, and recursive clipping of mismatches near the edges of the reads, which avoids accumulating artefactual mismatches near splice sites and is needed to distinguish short indels from substitutions near the edges.</p><p>Address of the bookmark: <a href="https://ncbi.github.io/magicblast/" rel="nofollow">https://ncbi.github.io/magicblast/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/35883/arcs-scaffolding-genome-drafts-with-linked-reads</guid>
	<pubDate>Tue, 06 Mar 2018 16:35:26 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/35883/arcs-scaffolding-genome-drafts-with-linked-reads</link>
	<title><![CDATA[ARCS: scaffolding genome drafts with linked reads]]></title>
	<description><![CDATA[<p><span>ARCS, an application that utilizes the barcoding information contained in linked reads to further organize draft genomes into highly contiguous assemblies. We show how the contiguity of an ABySS&nbsp;</span><em>H.sapiens</em><span>genome assembly can be increased over six-fold, using moderate coverage (25-fold) Chromium data. We expect ARCS to have broad utility in harnessing the barcoding information contained in linked read data for connecting high-quality sequences in genome assembly drafts.</span></p><p>Address of the bookmark: <a href="https://github.com/bcgsc/ARCS/" rel="nofollow">https://github.com/bcgsc/ARCS/</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36533/mecat-fast-mapping-error-correction-and-de-novo-assembly-for-single-molecule-sequencing-reads</guid>
	<pubDate>Fri, 11 May 2018 05:07:45 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36533/mecat-fast-mapping-error-correction-and-de-novo-assembly-for-single-molecule-sequencing-reads</link>
	<title><![CDATA[MECAT: fast mapping, error correction, and de novo assembly for single-molecule sequencing reads]]></title>
	<description><![CDATA[<p>MECAT is an ultra-fast Mapping, Error Correction and de novo Assembly Tools for single molecula sequencing (SMRT) reads. MECAT employs novel alignment and error correction algorithms that are much more efficient than the state of art of aligners and error correction tools. MECAT can be used for effectively de novo assemblying large genomes. For example, on a 32-thread computer with 2.0 GHz CPU , MECAT takes 9.5 days to assemble a human genome based on 54x SMRT data, which is 40 times faster than the current&nbsp;<a href="http://cbcb.umd.edu/software/pbcr/mhap/">PBcR-Mhap pipeline</a>. MECAT performance were compared with&nbsp;<a href="http://cbcb.umd.edu/software/pbcr/mhap/">PBcR-Mhap pipeline</a>,&nbsp;<a href="https://github.com/PacificBiosciences/falcon">FALCON</a>&nbsp;and&nbsp;<a href="http://canu.readthedocs.io/en/latest/">Canu(v1.3)</a>&nbsp;in five real datasets. The quality of assembled contigs produced by MECAT is the same or better than that of the&nbsp;<a href="http://cbcb.umd.edu/software/pbcr/mhap/">PBcR-Mhap pipeline</a>&nbsp;and&nbsp;<a href="https://github.com/PacificBiosciences/falcon">FALCON</a>.&nbsp;</p>
<p>https://www.nature.com/articles/nmeth.4432</p><p>Address of the bookmark: <a href="https://github.com/xiaochuanle/MECAT" rel="nofollow">https://github.com/xiaochuanle/MECAT</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>

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