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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/19980?offset=60</link>
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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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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/11249/how-to-sequence-the-human-genome-mark-j-kiel</guid>
	<pubDate>Fri, 30 May 2014 13:24:11 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/11249/how-to-sequence-the-human-genome-mark-j-kiel</link>
	<title><![CDATA[How to sequence the human genome - Mark J. Kiel]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/MvuYATh7Y74" frameborder="0" allowfullscreen></iframe>View full lesson: http://ed.ted.com/lessons/how-to-sequence-the-human-genome-mark-j-kiel

Your genome, every human's genome, consists of a unique DNA sequence of A's, T's, C's and G's that tell your cells how to operate. Thanks to technological advances, scientists are now able to know the sequence of letters that makes up an individual genome relatively quickly and inexpensively. Mark J. Kiel takes an in-depth look at the science behind the sequence.

Lesson by Mark J. Kiel, animation by Marc Christoforidis.]]></description>
	
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/12870/nuclear-dynamics-lab</guid>
  <pubDate>Thu, 17 Jul 2014 15:03:27 -0500</pubDate>
  <link></link>
  <title><![CDATA[Nuclear Dynamics Lab]]></title>
  <description><![CDATA[
<p>Lab focus is to elucidate fundamental principles, new mechanisms, machineries and emergent properties that are involved in maintaining the genome and gene expression programmes for improvements in lifelong health and well-being for all.</p>

<p>More at http://www.babraham.ac.uk/our-research/nuclear-dynamics/</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/19090/deeptools</guid>
	<pubDate>Sat, 08 Nov 2014 15:02:08 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/19090/deeptools</link>
	<title><![CDATA[deepTools]]></title>
	<description><![CDATA[<p>deepTools addresses the challenge of handling the large amounts of data that are now routinely generated from DNA sequencing centers. To do so, deepTools contains useful modules to process the mapped reads data to create coverage files in standard bedGraph and bigWig file formats. By doing so, deepTools allows the creation of normalized coverage files or the comparison between two files (for example, treatment and control). Finally, using such normalized and standardized files, multiple visualizations can be created to identify enrichments with functional annotations of the genome.<br /><br />Publicaton: http://nar.oxfordjournals.org/content/early/2014/05/05/nar.gku365.full<br /><br />Source Code and Wiki: https://github.com/fidelram/deepTools/wiki<br /><br />Galaxy Tool Shed repository: http://toolshed.g2.bx.psu.edu/view/bgruening/deeptools<br /><br />and example Galaxy workflows: http://toolshed.g2.bx.psu.edu/view/bgruening/deeptools_workflows</p>]]></description>
	<dc:creator>Martin Jones</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/19631/rosalind-bioinformatics-problems</guid>
	<pubDate>Thu, 18 Dec 2014 10:32:48 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/19631/rosalind-bioinformatics-problems</link>
	<title><![CDATA[Rosalind Bioinformatics problems !!!]]></title>
	<description><![CDATA[<p>Rosalind is a platform for learning bioinformatics and programming through problem solving. <a href="http://rosalind.info/problems/list-view/">Take a tour</a> to get the hang of how Rosalind works.</p>
<p>http://rosalind.info/problems/list-view/</p><p>Address of the bookmark: <a href="http://rosalind.info/problems/list-view/" rel="nofollow">http://rosalind.info/problems/list-view/</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/view/19838</guid>
	<pubDate>Sat, 27 Dec 2014 13:30:15 -0600</pubDate>
	<link>https://bioinformaticsonline.com/view/19838</link>
	<title><![CDATA[Interview with a bioinformatician series ...]]></title>
	<description><![CDATA[<p>The aim of this series to interviews some notable bioinformaticians to get their views on various aspects of bioinformatics research. Hopefully these answers will prove useful to others in the field, especially to those who are just starting their bioinformatics careers.<br /><br />This series will be available at BOL every fortnight.<br /><br /><br /><br /></p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/20331/type-hinting</guid>
	<pubDate>Fri, 09 Jan 2015 22:26:13 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/20331/type-hinting</link>
	<title><![CDATA[Type Hinting]]></title>
	<description><![CDATA[<p>Python creator Guido van Rossum&rsquo;s proposal for static type-checking annotations is inching closer to reality, and the feature has taken on a new name: type hinting.</p><p><img src="http://sdtimes.com/wp-content/uploads/2015/01/0107.sdt-python-typehinting.png" alt="image" width="619" height="219" style="border: 0px; border: 0px;"></p><p>Back in August, van Rossum published a proposal on the Python mailing list recommending type-checking annotations as a valuable feature for the next version of Python to improve the performance of editors and IDEs, linter capabilities, standard notation, and refactoring. Van Rossum&rsquo;s <a href="http://lwn.net/Articles/627558/">latest proposal</a>, posted late last month, outlined plans to publish a Python Enhancement Proposal (PEP) in early January to put the feature now known as type hinting on track for inclusion in Python 3.5, slated for release this September.</p><p>Reference</p><p>https://quip.com/r69HA9GhGa7J</p>]]></description>
	<dc:creator>Pranjali Yadav</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/21444/a-guide-for-complete-r-beginners-installing-r-packages</guid>
	<pubDate>Tue, 24 Feb 2015 20:23:34 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/21444/a-guide-for-complete-r-beginners-installing-r-packages</link>
	<title><![CDATA[A guide for complete R beginners :- Installing R packages]]></title>
	<description><![CDATA[<p>Part of the reason R has become so popular is the vast array of packages available at the <a href="http://cran.r-project.org/" target="_blank">cran</a> and <a href="http://www.bioconductor.org/" target="_blank">bioconductor</a> repositories. In the last few years, the number of packages has grown <a href="http://blog.revolutionanalytics.com/2010/09/what-can-other-languages-learn-from-r.html" target="_blank">exponentially</a>!</p><p>This is a short post giving steps on how to actually install R packages. Let&rsquo;s suppose you want to install the <a href="http://had.co.nz/ggplot2/" target="_blank">ggplot2</a> package. Well nothing could be easier. We just fire up an R shell and type:<br /><code><br />&gt; install.packages("ggplot2")</code></p><p>In theory the package should just install, however:</p><ul>
<li>if you are using Linux and don&rsquo;t have root access, this command won&rsquo;t work.</li>
<li>you will be asked to select your local mirror, i.e. which server should you use to download the package.</li>
</ul><h4>Installing packages without root access</h4><p>First, you need to designate a directory where you will store the downloaded packages. On my machine, I use the directory <code>/data/Rpackages/</code> After creating a package directory, to install a package we use the command:<br /><code><br />&gt; install.packages("ggplot2"</code><code>, lib="/data/Rpackages/")<br />&gt; library(ggplot2, lib.loc="/data/Rpackages/")<br /></code></p><p>It&rsquo;s a bit of a pain having to type <code>/data/Rpackages/</code> all the time. To avoid this burden,&nbsp; we create a file <code>.Renviron</code> in our home area, and add the line <code>R_LIBS=/data/Rpackages/</code> to it. This means that whenever you start R, the directory <code>/data/Rpackages/</code> is added to the list of places to look for R packages and so:</p><p><code>&gt; install.packages("ggplot2"</code><code>)<br />&gt; library(ggplot2)</code></p><p>just works!</p><h4>Setting the repository</h4><p>Every time you install a R package, you are asked which repository R should use. To set the repository and avoid having to specify this at every package install, simply:</p><ul>
<li>create a file <code>.Rprofile</code> in your home area.</li>
<li>Add the following piece of code to it:</li>
</ul><p><code><br />cat(".Rprofile: Setting UK repositoryn")<br />r = getOption("repos") # hard code the UK repo for CRAN<br />r["CRAN"] = "http://cran.uk.r-project.org"<br />options(repos = r)<br />rm(r)<br /></code></p><p>I found this tip in a stackoverflow <a href="http://stackoverflow.com/questions/1189759/expert-r-users-whats-in-your-rprofile/1189826#1189826" target="_blank">answer </a>.</p>]]></description>
	<dc:creator>Archana Malhotra</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/22017/binc-2015</guid>
	<pubDate>Sat, 11 Apr 2015 20:35:27 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/22017/binc-2015</link>
	<title><![CDATA[BINC 2015 !!!]]></title>
	<description><![CDATA[<p>Pondicherry University,Puducherry,on behalf of Department of Biotechnology, Government of India, will conduct the BINC examination in2015. The objective of this examination is to certify bioinformatics professionals, trained formally as well as self-trained.Registration will open from March 9,2015 to April 30,2015. Pondicherry University, Puducherry has been identified as a nodal agency by the Department of Biotechnology, Govt. of India to coordinate this examination along with nine centres namely, Pune University, Pune; Anna University, Chennai; Calcutta University, Kolkata; Institute of Bioinformatics &amp; Applied Biotechnology, Bangalore; North-Eastern Hill University, Shillong, University of Hyderabad, Hyderabad; University of Kerala, Thiruvananthapuram; Jawaharlal Nehru University, New Delhi and Assam Agricultural University, Guwahati. In the BINC 2013 examination,17 candidates were certified. DBT has agreed to fund Research fellowships for all the BINC qualified Indian nationals to pursue Ph.D. in Indian Institutes/Universities. Note that the candidate must possess a postgraduate degree(or equivalent) &amp; meet the criteria of the institutes/universities in order to avail research fellowship. In addition, cash prize of Rs. 10,000/- will be awarded to the top 10 BINC qualifiers.</p><p>More at http://www.binc.co.in/College/Index_New.aspx</p><p>BINC notification http://www.binc.co.in/PdfDocuments/Notification.pdf</p><p>Few dates to remember:</p><p>Starting of online submission of application: March 9, 2015<br />Last date for submission of application: April 30,2015<br />Examination consists of two parts:<br />Part I (Paper I) : June 7, 2015 (10 AM-12 PM)<br />Part II ( Paper II &amp; III) :June 28, 2015 (9 AM-12 PM &amp; 2 PM-4 PM)</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/file/view/22053/binc-sample-question-paper</guid>
	<pubDate>Thu, 16 Apr 2015 09:16:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/file/view/22053/binc-sample-question-paper</link>
	<title><![CDATA[BINC Sample Question Paper !!!]]></title>
	<description><![CDATA[<p>BINC sample question paper. Wish you all the best for BINC examination.</p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
	<enclosure url="https://bioinformaticsonline.com/file/download/22053" length="4041" type="text/plain" />
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