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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/36476?offset=80</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/13267/the-genome-10k-project</guid>
	<pubDate>Tue, 29 Jul 2014 09:11:04 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/13267/the-genome-10k-project</link>
	<title><![CDATA[The Genome 10K Project]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/B57xDIGtCT0" frameborder="0" allowfullscreen></iframe>https://genome10k.soe.ucsc.edu

The Genome 10K project aims to assemble a genomic zoo—a collection of DNA sequences representing the genomes of 10,000 vertebrate species, approximately one for every vertebrate genus. The trajectory of cost reduction in DNA sequencing suggests that this project will be feasible within a few years. Capturing the genetic diversity of vertebrate species would create an unprecedented resource for the life sciences and for worldwide conservation efforts.

The growing Genome 10K Community of Scientists (G10KCOS), made up of leading scientists representing major zoos, museums, research centers, and universities around the world, is dedicated to coordinating efforts in tissue specimen collection that will lay the groundwork for a large-scale sequencing and analysis project.]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/31156/splitbam-splits-a-bam-by-chromosomes</guid>
	<pubDate>Tue, 28 Feb 2017 09:01:28 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/31156/splitbam-splits-a-bam-by-chromosomes</link>
	<title><![CDATA[splitbam: splits a BAM by chromosomes]]></title>
	<description><![CDATA[<p><strong>splitbam</strong>&nbsp;splits a BAM by chromosomes.</p>
<p>Using the reference sequence dictionary (<code>*.dict</code>), it also creates some empty BAM files if no sam record was found for a chromosome. A pair of 'mock' SAM-Records can also be added to those empty BAMs to avoid some tools (like samtools) to crash.</p>
<h1>Usage</h1>
<p><code>java -jar splitbam.jar -p OUT/__CHROM__/__CHROM__.bam -R ref.fasta (bam|sam|stdin)</code></p>
<h1>Options</h1>
<ul>
<li>-h help; This screen.</li>
<li>-R (indexed reference file) REQUIRED.</li>
<li>-u (unmapped chromosome name): default:Unmapped</li>
<li>-e | --empty : generate EMPTY bams for chromosome having no read mapped</li>
<li>-m | --mock : if option '-e', add a mock pair of sam records to the empty bam</li>
<li>-p (output file/bam pattern) REQUIRED. MUST contain&nbsp;<strong><code>__CHROM__</code></strong>&nbsp;and end with .bam</li>
<li>-s assume input is sorted.</li>
<li>-x | --index create index.</li>
<li>-t | --tmp (dir) tmp file directory</li>
<li>-G (file) chrom-group file (see below)</li>
</ul><p>Address of the bookmark: <a href="https://code.google.com/archive/p/jvarkit/wikis/SplitBam.wiki" rel="nofollow">https://code.google.com/archive/p/jvarkit/wikis/SplitBam.wiki</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/32190/dbg2olcefficient-assembly-of-large-genomes-using-long-erroneous-reads-of-the-third-generation-sequencing-technologies</guid>
	<pubDate>Wed, 19 Apr 2017 10:09:51 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/32190/dbg2olcefficient-assembly-of-large-genomes-using-long-erroneous-reads-of-the-third-generation-sequencing-technologies</link>
	<title><![CDATA[DBG2OLC:Efficient Assembly of Large Genomes Using Long Erroneous Reads of the Third Generation Sequencing Technologies]]></title>
	<description><![CDATA[<p>DBG2OLC:Efficient Assembly of Large Genomes Using Long Erroneous Reads of the Third Generation Sequencing Technologies</p>
<p>Our work is published in Scientific Reports:</p>
<p>Ye, C. et al. DBG2OLC: Efficient Assembly of Large Genomes Using Long Erroneous Reads of the Third Generation Sequencing Technologies. Sci. Rep. 6, 31900; doi: 10.1038/srep31900 (2016).</p>
<p><a href="http://www.nature.com/articles/srep31900">http://www.nature.com/articles/srep31900</a></p>
<p>The manual can be downloaded from:</p>
<p><a href="https://github.com/yechengxi/DBG2OLC/raw/master/Manual.docx">https://github.com/yechengxi/DBG2OLC/raw/master/Manual.docx</a></p>
<p>To use precompiled versions,please go to:</p>
<p><a href="https://github.com/yechengxi/DBG2OLC/tree/master/compiled">https://github.com/yechengxi/DBG2OLC/tree/master/compiled</a></p>
<p>&nbsp;</p><p>Address of the bookmark: <a href="https://github.com/yechengxi/DBG2OLC" rel="nofollow">https://github.com/yechengxi/DBG2OLC</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41691/genobuntu-package-for-next-generation-sequencing-and-genome-assembly</guid>
	<pubDate>Mon, 18 May 2020 16:47:56 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41691/genobuntu-package-for-next-generation-sequencing-and-genome-assembly</link>
	<title><![CDATA[Genobuntu: Package for Next Generation Sequencing and Genome Assembly]]></title>
	<description><![CDATA[<div>
<p>Genobuntu is a software package containing more than 70 software and packages oriented towards NGS. In its current version, Genobuntu supports pre assembly tools, genome assemblers as well as post assembly tools.<br><br>Commonly used biological software and example script files for different assembly pipelines have also been provided, where the example script files can be updated to suit one&rsquo;s experimental needs. Genobuntu attempts to reduce the amount of time and energy needed to build software workstations and it can also act as a good teaching source for a class room setting.<br><br>Therefore, Genobuntu offers a well-tailored environment for both novices and experts working in the field of genome assembly.</p>
</div>
<div>
<h3>Features</h3>
<ul>
<li>Velvet</li>
<li>MiB</li>
<li>SSAKE</li>
<li>EULER</li>
<li>VCAKE</li>
<li>ABySS</li>
<li>ALLPATHS</li>
<li>Celera</li>
<li>SHARCGS</li>
<li>Allpaths</li>
<li>IDBA</li>
<li>TAIPAN</li>
<li>Edena</li>
<li>SOAPdenovo</li>
<li>Maq</li>
<li>IDBA-UD</li>
<li>No. of Reads present in the Ref. Seq.</li>
<li>ART NGS Reads Simulator</li>
<li>HiTEC, FASTQC</li>
<li>Minimum Description Length</li>
<li>SOAPaligner</li>
<li>Sequencing Read Archive Toolkit</li>
</ul>
</div><p>Address of the bookmark: <a href="https://sourceforge.net/projects/genobuntu/" rel="nofollow">https://sourceforge.net/projects/genobuntu/</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40972/deepbinner-a-signal-level-demultiplexer-for-oxford-nanopore-reads</guid>
	<pubDate>Mon, 10 Feb 2020 02:45:53 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40972/deepbinner-a-signal-level-demultiplexer-for-oxford-nanopore-reads</link>
	<title><![CDATA[Deepbinner: a signal-level demultiplexer for Oxford Nanopore reads]]></title>
	<description><![CDATA[<p>Deepbinner is a tool for demultiplexing barcoded <a href="https://nanoporetech.com/">Oxford Nanopore</a> sequencing reads. It does this with a deep <a href="https://adeshpande3.github.io/adeshpande3.github.io/A-Beginner's-Guide-To-Understanding-Convolutional-Neural-Networks/">convolutional neural network</a> classifier, using many of the <a href="https://towardsdatascience.com/neural-network-architectures-156e5bad51ba">architectural advances</a> that have proven successful in image classification. Unlike other demultiplexers (e.g. Albacore and <a href="https://github.com/rrwick/Porechop">Porechop</a>), Deepbinner identifies barcodes from the raw signal (a.k.a. squiggle) which gives it greater sensitivity and fewer unclassified reads.</p><p>Address of the bookmark: <a href="https://github.com/rrwick/Deepbinner" rel="nofollow">https://github.com/rrwick/Deepbinner</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/34711/1mb-long-dna-with-nanopore-technology</guid>
	<pubDate>Tue, 19 Dec 2017 18:49:28 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/34711/1mb-long-dna-with-nanopore-technology</link>
	<title><![CDATA[1mb long DNA with Nanopore technology]]></title>
	<description><![CDATA[<p>The first continuous DNA read of more than a million bases (&gt;1Mb) has been achieved, using Oxford Nanopore sequencing technology. Congratulations to Martin Smith and collaborators! Read more: http://bit.ly/2j5TNCO</p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<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>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37776/rhat-a-seed-and-extension-based-noisy-long-read-alignment-tool</guid>
	<pubDate>Sun, 23 Sep 2018 05:12:22 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37776/rhat-a-seed-and-extension-based-noisy-long-read-alignment-tool</link>
	<title><![CDATA[rHAT: a seed-and-extension-based noisy long read alignment tool]]></title>
	<description><![CDATA[<p><span>rHAT is a seed-and-extension-based noisy long read alignment tool. It is suitable for aligning 3rd generation sequencing reads which are in large read length with relatively high error rate, especially Pacbio's Single Molecule Read-time (SMRT) sequencing reads.</span></p><p>Address of the bookmark: <a href="https://github.com/dfguan/rHAT" rel="nofollow">https://github.com/dfguan/rHAT</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36758/pbalign-maps-pacbio-reads-to-reference-sequences-and-saves-alignments-to-a-bam-file</guid>
	<pubDate>Thu, 24 May 2018 10:06:52 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36758/pbalign-maps-pacbio-reads-to-reference-sequences-and-saves-alignments-to-a-bam-file</link>
	<title><![CDATA[pbalign: maps PacBio reads to reference sequences and saves alignments to a BAM file]]></title>
	<description><![CDATA[pbalign aligns PacBio reads to reference sequences, filters aligned reads according to user-specific filtering criteria, and converts the output to either the SAM format or PacBio Compare HDF5 (e.g., .cmp.h5) format. The output Compare HDF5 file will be compatible with Quiver if --forQuiver option is specified.<p>Address of the bookmark: <a href="https://github.com/PacificBiosciences/pbalign" rel="nofollow">https://github.com/PacificBiosciences/pbalign</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/31566/software-and-tools-to-detect-structure-variation-with-long-reads</guid>
	<pubDate>Wed, 15 Mar 2017 14:31:09 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/31566/software-and-tools-to-detect-structure-variation-with-long-reads</link>
	<title><![CDATA[Software and Tools to detect structure variation with long reads !!]]></title>
	<description><![CDATA[<p>Uncovering the connection between genetics and heritable diseases requires an approach that looks at all the variant bases and types in a genome. While a PacBio&nbsp;<em>de novo</em>&nbsp;assembly resolves the most novel SV variants. 8-10X PacBio coverage of single genomes or trios reveals triple the SVs detectable by short-read data.</p><p>With&nbsp;<span style="text-decoration: underline;"><a href="http://www.pacb.com/smrt-science/">Single Molecule, Real-Time (SMRT) Sequencing</a></span>, you can access structural variations having a broad range of sizes, types, and GC content with the ability to:</p><ul>
<li>Uncover missing heritability linked to structural variation</li>
<li>Unambiguously identify genomic context and variant breakpoints at the sequence level to unravel the genetic etiology of disease</li>
<li>Resolve structural variation across the complete size spectrum with basepair resolution</li>
</ul><p>Following are the SV tools, which can assist you to achieve your goal.</p><p><strong>Sniffles:</strong>&nbsp;Structural variation caller using third generation sequencing</p><p>Sniffles is a structural variation caller using third generation sequencing (PacBio or Oxford Nanopore). It detects all types of SVs using evidence from split-read alignments, high-mismatch regions, and coverage analysis. Please note the current version of Sniffles requires sorted output from BWA-MEM (use -M and -x parameter) or NGM-LR with the optional SAM attributes enabled!&nbsp;</p><p>More at&nbsp;https://github.com/fritzsedlazeck/Sniffles</p><p><strong style="font-size: 12.8px;"><br />MultiBreak-SV:</strong> It identifies structural variants from next-generation paired end data, third-generation long read data, or data from a combination of sequencing platforms.</p><p>There are two pieces of software in this release: (1) a pre-processor that takes machineformat (.m5) BLASR files, and (2) MultiBreak-SV. For installation and usage instructions, see doc/MultiBreakSV-Manual.txt.</p><p>More at&nbsp;https://github.com/raphael-group/multibreak-sv</p><p><strong style="font-size: 12.8px;"><br />Parliament:</strong>&nbsp;A Structural Variation Tool. Why ask a single sv-detection approach to find every variant when you can have a parliament of tools deciding?</p><p>Publication about the algorithm and &ldquo;&hellip;the first long-read characterization of structural variation in a diploid human personal genome&hellip;&rdquo; (HS1011) -&nbsp;<a href="http://www.biomedcentral.com/1471-2164/16/286">&ldquo;Assessing structural variation in a personal genome&mdash;towards a human reference diploid genome&rdquo;</a></p><p>More at&nbsp;https://sourceforge.net/projects/parliamentsv/</p><p>https://www.dnanexus.com/papers/Parliament_Info_Sheet.pdf</p><p><br /><strong>PBHoney:</strong>&nbsp;the structural variation discovery tool&nbsp;<br /><br />PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.</p><p>Read The Paper&nbsp;<a href="http://www.biomedcentral.com/1471-2105/15/180/abstract" target="_blank">http://www.biomedcentral.com/1471-2105/15/180/abstract</a></p><p>More at&nbsp;https://sourceforge.net/projects/pb-jelly/</p><p><strong><br />SMRT-SV:</strong> Structural variant and indel caller for PacBio reads</p><p>Structural variant (SV) and indel caller for PacBio reads based on methods from&nbsp;<a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature13907.html">Chaisson et al. 2014</a>.</p><p>SMRT-SV provides an official software package for tools described in&nbsp;<a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature13907.html">Chaisson et al. 2014</a>&nbsp;and adds several key features including the following.</p><ul>
<li>Unified variant calling user interface with built-in cluster compute support</li>
<li>Small indel calling (2-49 bp)</li>
<li>Improved inversion calling (<code>screenInversions</code>)</li>
<li>Quality metric for SV calls based on number of local assemblies supporting each call</li>
<li>Higher sensitivity for SV calls using tiled local assemblies across the entire genome instead of "signature" regions</li>
<li>Genotyping of SVs with Illumina paired-end reads from WGS samples</li>
</ul><p>More at&nbsp;https://github.com/EichlerLab/pacbio_variant_caller</p>]]></description>
	<dc:creator>Archana Malhotra</dc:creator>
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