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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/40972?offset=50</link>
	<atom:link href="https://bioinformaticsonline.com/related/40972?offset=50" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	<item>
	<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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<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34216/meraculous-de-novo-genome-assembly-with-short-paired-end-reads</guid>
	<pubDate>Tue, 07 Nov 2017 04:36:10 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34216/meraculous-de-novo-genome-assembly-with-short-paired-end-reads</link>
	<title><![CDATA[Meraculous: De Novo Genome Assembly with Short Paired-End Reads]]></title>
	<description><![CDATA[<p><span>We describe a new algorithm, meraculous, for whole genome assembly of deep paired-end short reads, and apply it to the assembly of a dataset of paired 75-bp Illumina reads derived from the 15.4 megabase genome of the haploid yeast&nbsp;</span><em>Pichia stipitis</em><span>. More than 95% of the genome is recovered, with no errors; half the assembled sequence is in contigs longer than 101 kilobases and in scaffolds longer than 269 kilobases. Incorporating fosmid ends recovers entire chromosomes. Meraculous relies on an efficient and conservative traversal of the subgraph of the&nbsp;</span><em>k</em><span>-mer (deBruijn) graph of oligonucleotides with unique high quality extensions in the dataset, avoiding an explicit error correction step as used in other short-read assemblers. A novel memory-efficient hashing scheme is introduced. The resulting contigs are ordered and oriented using paired reads separated by &sim;280 bp or &sim;3.2 kbp, and many gaps between contigs can be closed using paired-end placements. Practical issues with the dataset are described, and prospects for assembling larger genomes are discussed.</span></p><p>Address of the bookmark: <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3158087/" rel="nofollow">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3158087/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36597/gappadder-a-sensitive-approach-for-closing-gaps-on-draft-genomes-with-short-sequence-reads</guid>
	<pubDate>Mon, 14 May 2018 05:25:48 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36597/gappadder-a-sensitive-approach-for-closing-gaps-on-draft-genomes-with-short-sequence-reads</link>
	<title><![CDATA[GAPPadder: A Sensitive Approach for Closing Gaps on Draft Genomes with Short Sequence Reads]]></title>
	<description><![CDATA[<p><span>This software is provided ``as is&rdquo; without warranty of any kind. In no event shall the author be held responsible for any damage resulting from the use of this software. The program package, including source codes, executables, and this documentation, is distributed free of charge. If you use this program in a publication, please cite the following reference:</span><br><span>Chong Chu, Xin Li, and Yufeng Wu. "GAPPadder: A Sensitive Approach for Closing Gaps on Draft Genomes with Short Sequence Reads." bioRxiv (2017): 125534.</span></p><p>Address of the bookmark: <a href="https://github.com/Reedwarbler/GAPPadder" rel="nofollow">https://github.com/Reedwarbler/GAPPadder</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40940/consed-a-finishing-package-bam-file-viewer-assembly-editor-autofinish-autoreport-autoedit-and-align-reads-to-reference-sequence</guid>
	<pubDate>Fri, 07 Feb 2020 07:16:22 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40940/consed-a-finishing-package-bam-file-viewer-assembly-editor-autofinish-autoreport-autoedit-and-align-reads-to-reference-sequence</link>
	<title><![CDATA[Consed--A Finishing Package (BAM File Viewer, Assembly Editor, Autofinish, Autoreport, Autoedit, and Align Reads To Reference Sequence)]]></title>
	<description><![CDATA[<ul>
<li>Supports Illumina, 454, other Next-Gen and Sanger Reads and allows mixtures of these read types</li>
<li>Consed includes BamScape which can view bam files with unlimited numbers of reads. BamScape can bring up consed to edit reads and the reference sequence in targeted regions.</li>
<li>Consed is compatible with Newbler, Cross_match, Phrap, MIRA, Velvet and PCAP output.</li>
<li>Quickly takes the user to each variant site for viewing (also available as an automated report)</li>
<li>Overview of assembly can help detect and fix misassemblies</li>
<li>Editing time reduced by the program's ability to pin-point problem areas</li>
<li>Editing is guided by error probabilities</li>
</ul><p>Address of the bookmark: <a href="http://www.phrap.org/consed/consed.html" rel="nofollow">http://www.phrap.org/consed/consed.html</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44593/bear-better-emulation-for-artificial-reads</guid>
	<pubDate>Sat, 06 Jul 2024 04:27:53 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44593/bear-better-emulation-for-artificial-reads</link>
	<title><![CDATA[BEAR: Better Emulation for Artificial Reads]]></title>
	<description><![CDATA[<p dir="auto">Created by Stephen Johnson, Brett Trost, Dr. Jeffrey R. Long, Dr. Anthony Kusalik University of Saskatchewan, Department of Computer Science</p>
<p dir="auto">BEAR is intended to be an easy-to-use collection of scripts for generating simulated WGS metagenomic reads with read lengths, quality scores, error profiles, and species abundances derived from real user-supplied WGS data.</p><p>Address of the bookmark: <a href="https://github.com/sej917/BEAR" rel="nofollow">https://github.com/sej917/BEAR</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/23167/graphmap-a-highly-sensitive-and-accurate-mapper-for-long-error-prone-reads</guid>
	<pubDate>Mon, 06 Jul 2015 08:46:53 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/23167/graphmap-a-highly-sensitive-and-accurate-mapper-for-long-error-prone-reads</link>
	<title><![CDATA[GraphMap - A highly sensitive and accurate mapper for long, error-prone reads]]></title>
	<description><![CDATA[<p>GraphMap is a novel mapper targeted at aligning long, error-prone third-generation sequencing data.<br>It is&nbsp;<strong>designed to handle Oxford Nanopore MinION 1d and 2d reads</strong>&nbsp;with very high sensitivity and accuracy, and also presents a significant improvement over the state-of-the-art for PacBio read mappers.</p>
<p>GraphMap was also designed for ease-of-use: the&nbsp;<strong>default parameters</strong>&nbsp;can handle a wide range of read lengths and error profiles, including:&nbsp;<em>Illumina</em>,&nbsp;<em>PacBio</em>&nbsp;and&nbsp;<em>Oxford Nanopore</em>.<br>This is an especially important feature for technologies where the error rates and error profiles can vary widely across, or even within, sequencing runs.</p>
<p><a href="http://biorxiv.org/content/early/2015/06/10/020719">http://biorxiv.org/content/early/2015/06/10/020719</a></p><p>Address of the bookmark: <a href="https://github.com/isovic/graphmap" rel="nofollow">https://github.com/isovic/graphmap</a></p>]]></description>
	<dc:creator>Rahul Agarwal</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/36884/halc-high-throughput-algorithm-for-long-read-error-correction</guid>
	<pubDate>Fri, 08 Jun 2018 10:47:41 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36884/halc-high-throughput-algorithm-for-long-read-error-correction</link>
	<title><![CDATA[HALC: High throughput algorithm for long read error correction]]></title>
	<description><![CDATA[HALC, a high throughput algorithm for long read error correction. HALC aligns the long reads to short read contigs from the same species with a relatively low identity requirement so that a long read region can be aligned to at least one contig region, including its true genome region’s repeats in the contigs sufficiently similar to it (similar repeat based alignment approach)

HALC was able to obtain 6.7-41.1% higher throughput than the existing algorithms while maintaining comparable accuracy. The HALC corrected long reads can thus result in 11.4-60.7% longer assembled contigs than the existing algorithms.<p>Address of the bookmark: <a href="https://github.com/lanl001/halc" rel="nofollow">https://github.com/lanl001/halc</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<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/researchlabs/view/17501/nieduszynski-group</guid>
  <pubDate>Fri, 26 Sep 2014 19:35:06 -0500</pubDate>
  <link></link>
  <title><![CDATA[Nieduszynski Group]]></title>
  <description><![CDATA[
<p>Complete, accurate replication of the genome is essential for life. All chromosomes in eukaryotic cells must be duplicated and then segregated to daughter cells to ensure genetic integrity and produce the large number of cells that make up a multicellular organism. We are using genetic, genomic and computational methods to understand how chromosome replication is regulated to ensure genome stability. By focusing on the basic biology that underpins cell growth and division we aim to provide new insights that may help our understanding of diseases such as cancer and congenital disorders. </p>

<p>More http://www.nieduszynski.org/index.php<br />http://www.path.ox.ac.uk/research/cell-biology-and-pathology/conrad-nieduszynski-group</p>
]]></description>
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