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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/26303?offset=670</link>
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	<description><![CDATA[]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/34707/string-graph-based-genome-assembly-software-and-tools</guid>
	<pubDate>Tue, 19 Dec 2017 17:17:38 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/34707/string-graph-based-genome-assembly-software-and-tools</link>
	<title><![CDATA[String graph based genome assembly software and tools !]]></title>
	<description><![CDATA[<p>In&nbsp;<a href="https://en.wikipedia.org/wiki/Graph_theory" title="Graph theory">graph theory</a>, a&nbsp;<strong>string graph</strong>&nbsp;is an&nbsp;<a href="https://en.wikipedia.org/wiki/Intersection_graph" title="Intersection graph">intersection graph</a>&nbsp;of&nbsp;<a href="https://en.wikipedia.org/wiki/Curve" title="Curve">curves</a>&nbsp;in the plane; each curve is called a "string".&nbsp; String graphs were first proposed by E. W. Myers in a&nbsp;<a href="http://bioinformatics.oxfordjournals.org/content/21/suppl_2/ii79.full.pdf+html">2005 publication</a>.&nbsp;In&nbsp;recent&nbsp;<a href="http://genome.cshlp.org/content/early/2012/01/22/gr.126953.111">Genome Research paper</a>&nbsp;describing an innovative approach for assembling large genomes from NGS data caught our attention for several reasons. i) it give different "string graph" prospective of long lasting genome assembly problem ii) the&nbsp;paper is coauthored by Jared Simpson, the developer of&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694472/">ABySS assembler</a>&nbsp;and Richard Durbin. iii)&nbsp;Simpson-Durbin algorithm is that it does not rely on de Bruijn graphs, and instead employs a different graph construction approach called &lsquo;string graph&rsquo;.</p><p>Following are the genome assembly tools based on string graph:</p><p>1.SGA (String Graph Assembler)&nbsp;https://github.com/jts/sga</p><p>Assembles large genomes from high coverage short read data. SGA is designed as a modular set of programs, which are used to form an assembly pipeline. SGA implements a set of assembly algorithms based on the FM-index. As the FM-index is a compressed data structure, the algorithms are very memory efficient. The SGA assembly has three distinct phases. The first phase corrects base calling errors in the reads. The second phase assembles contigs from the corrected reads. The third phase uses paired end and/or mate pair data to build scaffolds from the contigs. The output of this software is a PDF report that allows the properties of the genome and data quality to be visually explored. By providing more information to the user at the start of an assembly project, this software will help increase awareness of the factors that make a given assembly easy or difficult, assist in the selection of software and parameters and help to troubleshoot an assembly if it runs into problems.</p><p>2.&nbsp;SAGE: String-overlap Assembly of GEnomes&nbsp;https://github.com/lucian-ilie/SAGE2</p><p>SAGE, for de novo genome assembly. As opposed to most assemblers, which are de Bruijn graph based, SAGE uses the string-overlap graph. SAGE builds upon great existing work on string-overlap graph and maximum likelihood assembly, bringing an important number of new ideas, such as the efficient computation of the transitive reduction of the string overlap graph, the use of (generalized) edge multiplicity statistics for more accurate estimation of read copy counts, and the improved use of mate pairs and min-cost flow for supporting edge merging. The assemblies produced by SAGE for several short and medium-size genomes compared favourably with those of existing leading assemblers.</p><p>3. FSG: Fast String Graph</p><p>The new integrated assembler has been assessed on a standard benchmark, showing that fast string graph (FSG) is significantly faster than SGA while maintaining a moderate use of main memory, and showing practical advantages in running FSG on multiple threads. Moreover, we have studied the effect of coverage rates on the running times.</p><p>4.&nbsp;&nbsp;BASE&nbsp;https://github.com/dhlbh/BASE</p><p>It enhances the classic seed-extension approach by indexing the reads efficiently to generate adaptive seeds that have high probability to appear uniquely in the genome. Such seeds form the basis for BASE to build extension trees and then to use reverse validation to remove the branches based on read coverage and paired-end information, resulting in high-quality consensus sequences of reads sharing the seeds. Such consensus sequences are then extended to contigs.&nbsp;BASE is a practically efficient tool for constructing contig, with significant improvement in quality for long NGS reads. It is relatively easy to extend BASE to include scaffolding.</p><p>5.&nbsp;Fermi&nbsp;https://github.com/lh3/fermi/</p><p>Fermi is a de novo assembler with a particular focus on assembling Illumina&nbsp;short sequence reads from a mammal-sized genome. In addition to the role of a&nbsp;typical assembler, fermi also aims to preserve heterozygotes which are often&nbsp;collapsed by other assemblers. Its ultimate goal is to find a minimal set of&nbsp;unitigs to represent all the information in raw reads.</p><p>If you want to learn about String Graph assembler, please read the following papers -</p><p>i)&nbsp;<a href="http://bioinformatics.oxfordjournals.org/content/21/suppl_2/ii79.full.pdf+html">The Fragment Assembly String Graph - E. W. Myers</a></p><p>This paper describes the String Graph concept.</p><p>ii)&nbsp;<a href="http://bioinformatics.oxfordjournals.org/content/26/12/i367.full#ref-20">Efficient construction of an assembly string graph using the FM-index - Jared T. Simpson and Richard Durbin</a></p><p>This earlier paper from Simpson and Durbin</p><p>iii)&nbsp;<a href="http://genome.cshlp.org/content/early/2012/01/22/gr.126953.111">Efficient de novo assembly of large genomes using compressed data structures - Jared T. Simpson and Richard Durbin</a></p><p>&nbsp;</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/35762/genome-assembly-stats-plotting</guid>
	<pubDate>Wed, 28 Feb 2018 03:45:39 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/35762/genome-assembly-stats-plotting</link>
	<title><![CDATA[Genome assembly stats plotting]]></title>
	<description><![CDATA[<p>A&nbsp;<em>de novo</em>&nbsp;genome assembly can be summarised b</p>
<p>y a number of metrics, including:</p>
<ul>
<li>Overall assembly length</li>
<li>Number of scaffolds/contigs</li>
<li>Length of longest scaffold/contig</li>
<li>Scaffold/contig N50 and N90Assembly base composition, in particular percentage GC and percentage Ns</li>
<li>CEGMA completeness</li>
<li>Scaffold/contig length/count distribution</li>
</ul>
<p>assembly-stats supports two widely used presentations of these values, tabular and cumulative length plots, and introduces an additional circular plot that summarises most commonly used assembly metrics in a single visualisation. Each of these presentations is generated using javascript from a common (JSON) data structure, allowing toggling between alternative views, and each can be applied to a single or multiple assemblies to allow direct comparison of alternate assemblies.</p>
<p>Tabular presentation allows direct comparison of exact values between assemblies, the limitations of this approach lie in the necessary omission of distributions and the challenge of interpreting ratios of values that may vary by several orders of magnitude.</p><p>Address of the bookmark: <a href="https://github.com/rjchallis/assembly-stats" rel="nofollow">https://github.com/rjchallis/assembly-stats</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/29272/decipher</guid>
	<pubDate>Fri, 30 Sep 2016 09:33:12 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/29272/decipher</link>
	<title><![CDATA[DECIPHER]]></title>
	<description><![CDATA[<p>DECIPHER is a software toolset that can be used to maintain, analyze, and decipher large amounts of DNA sequence data. To install DECIPHER, see the <a href="http://DECIPHER.cee.wisc.edu/Download.html">Downloads</a> page.<br><br> To begin using DECIPHER read the "Getting Started DECIPHERing" tutorial. Refer to the PDF documents below for instructions on how to use DECIPHER for various tasks.</p><p>Address of the bookmark: <a href="http://decipher.cee.wisc.edu/Documentation.html" rel="nofollow">http://decipher.cee.wisc.edu/Documentation.html</a></p>]]></description>
	<dc:creator>Anjana</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36935/assemblytics-delta-file-to-analyze-alignments-of-an-assembly-to-another-assembly-or-a-reference-genome</guid>
	<pubDate>Thu, 14 Jun 2018 07:31:00 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36935/assemblytics-delta-file-to-analyze-alignments-of-an-assembly-to-another-assembly-or-a-reference-genome</link>
	<title><![CDATA[assemblytics: delta file to analyze alignments of an assembly to another assembly or a reference genome]]></title>
	<description><![CDATA[Download and install MUMmer
Align your assembly to a reference genome using nucmer (from MUMmer package)
$ nucmer -maxmatch -l 100 -c 500 REFERENCE.fa ASSEMBLY.fa -prefix OUT
Consult the MUMmer manual if you encounter problems

Optional: Gzip the delta file to speed up upload (usually 2-4X faster)
$ gzip OUT.delta
Then use the OUT.delta.gz file for upload.
Upload the .delta or delta.gz file (view example) to Assemblytics
Important: Use only contigs rather than scaffolds from the assembly. This will prevent false positives when the number of Ns in the scaffolded sequence does not match perfectly to the distance in the reference.

The unique sequence length required represents an anchor for determining if a sequence is unique enough to safely call variants from, which is an alternative to the mapping quality filter for read alignment.

http://assemblytics.com/<p>Address of the bookmark: <a href="http://assemblytics.com/" rel="nofollow">http://assemblytics.com/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/29282/cosmic</guid>
	<pubDate>Sat, 01 Oct 2016 15:04:10 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/29282/cosmic</link>
	<title><![CDATA[COSMIC]]></title>
	<description><![CDATA[<p>The accurate description and annotation of structural variants can be complex. &nbsp;This is due to the different resolution that variants are reported from traditional&nbsp;cytogenetic coordinates down to the actual base pair positions. Furthermore, multiple&nbsp;rearrangements in a single area of the genome can make cataloguing and interpreting&nbsp;their effects challenging.&nbsp;</p>
<p>The Rearrangement Overview page describes the one or more breakpoints which make up a structural&nbsp;variant. A breakpoint is defined as a region or point where the sample sequence has altered&nbsp;from the reference sequence. Minimum interpretation is made of this data. One variant event&nbsp;can consist of one or multiple breakpoints. The Syntax (shown above the table) gives a detailed description of the variant and its location &nbsp;(e.g. chr11:g.36585230_76606619del, a deletion of&nbsp;roughly 40Mb on chromosome 11). Syntax is based on HGVS mutation nomenclature recommendations&nbsp;[http://www.hgvs.org/rec.html].&nbsp;</p>
<p>http://cancer.sanger.ac.uk/cosmic/help/rearrangement/overview</p><p>Address of the bookmark: <a href="http://cancer.sanger.ac.uk/cosmic/help/rearrangement/overview" rel="nofollow">http://cancer.sanger.ac.uk/cosmic/help/rearrangement/overview</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/37396/converting-a-vcf-into-a-fasta-given-some-reference</guid>
	<pubDate>Fri, 20 Jul 2018 10:03:53 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/37396/converting-a-vcf-into-a-fasta-given-some-reference</link>
	<title><![CDATA[Converting a VCF into a FASTA given some reference !]]></title>
	<description><![CDATA[<p>Samtools/BCFtools (Heng Li) provides a Perl script&nbsp;<a href="https://github.com/lh3/samtools/blob/master/bcftools/vcfutils.pl"><code>vcfutils.pl</code></a>&nbsp;which does this, the function&nbsp;<code>vcf2fq</code>&nbsp;(lines 469-528)</p><p>This script has been modified by others to convert InDels as well, e.g.&nbsp;<a href="https://github.com/gringer/bioinfscripts/blob/master/vcf2fq.pl">this</a>&nbsp;by David Eccles</p><pre><code><span>./</span><span>vcf2fq</span><span>.</span><span>pl </span><span>-</span><span>f </span><span>&lt;</span><span>input</span><span>.</span><span>fasta</span><span>&gt;</span><span> </span><span>&lt;</span><span>all</span><span>-</span><span>site</span><span>.</span><span>vcf</span><span>&gt;</span><span> </span><span>&gt;</span><span> </span><span>&lt;</span><span>output</span><span>.</span><span>fastq</span><span>&gt;</span></code></pre><p>https://github.com/gringer/bioinfscripts/blob/master/vcf2fq.pl</p><p>https://github.com/lh3/samtools/blob/master/bcftools/vcfutils.pl</p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38210/skesa-strategic-k-mer-extension-for-scrupulous-assemblies</guid>
	<pubDate>Wed, 14 Nov 2018 04:45:41 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38210/skesa-strategic-k-mer-extension-for-scrupulous-assemblies</link>
	<title><![CDATA[SKESA: strategic k-mer extension for scrupulous assemblies]]></title>
	<description><![CDATA[<p><span>SKESA is a DeBruijn graph-based de-novo assembler designed for assembling reads of microbial genomes sequenced using Illumina. Comparison with SPAdes and MegaHit shows that SKESA produces assemblies that have high sequence quality and contiguity, handles low-level contamination in reads, is fast, and produces an identical assembly for the same input when assembled multiple times with the same or different compute resources. </span></p>
<p><span>Source code for SKESA is freely available at&nbsp;</span><span><a href="https://github.com/ncbi/SKESA/releases"><span>https://github.com/ncbi/SKESA/releases</span></a></span><span>.</span></p>
<p>Research Paper&nbsp;@ <a href="https://genomebiology.biomedcentral.com/articles/10.1186/s13059-018-1540-z">Link</a></p>
<p><span><span>SKESA algorithm are as follows:</span><br></span></p>
<p><span><img src="https://media.springernature.com/lw785/springer-static/image/art%3A10.1186%2Fs13059-018-1540-z/MediaObjects/13059_2018_1540_Fig4_HTML.png" alt="image" width="785" height="984" style="border: 0px; border: 0px;"></span></p><p>Address of the bookmark: <a href="https://github.com/ncbi/SKESA/releases" rel="nofollow">https://github.com/ncbi/SKESA/releases</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/29574/beagle</guid>
	<pubDate>Thu, 27 Oct 2016 11:19:00 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/29574/beagle</link>
	<title><![CDATA[Beagle]]></title>
	<description><![CDATA[<p>Beagle is a software package that performs genotype calling, genotype phasing, imputation of ungenotyped markers, and identity-by-descent segment detection.</p>
<p>Beagle version 4.1 has a more accurate genotype phasing algorithm and a very fast and accurate genotype imputation algorithm. Version 4.1 also has several changes to the command line arguments which are described in the&nbsp;<a href="http://faculty.washington.edu/browning/beagle/release_notes" target="_blank">release notes</a>. The "ped" argument has no effect in version 4.1. If your data contains nuclear families and you want to model the parent-offspring relationships when phasing genotypes, please use&nbsp;<a href="https://faculty.washington.edu/browning/beagle/b4_0.html">version 4.0</a>.</p>
<p>If you use Beagle 4.1 in a published analysis, please report the program version and cite the appropriate article.</p>
<p>The citation for Beagle's phasing algorithm is:</p>
<p>S R Browning and B L Browning (2007) Rapid and accurate haplotype phasing and missing data inference for whole genome association studies by use of localized haplotype clustering. Am J Hum Genet 81:1084-1097.<a href="http://dx.doi.org/doi:10.1086/521987" target="_blank">doi:10.1086/521987</a></p>
<p>The citation for Beagle's genotype imputation algorithm is:</p>
<p>B L Browning and S R Browning (2016). Genotype imputation with millions of reference samples. Am J Hum Genet 98:116-126.<a href="http://dx.doi.org/doi:10.1016/j.ajhg.2015.11.020" target="_blank">doi:10.1016/j.ajhg.2015.11.020</a></p>
<p>The citation for Beagle's IBD detection algorithm is:</p>
<p>B L Browning and S R Browning (2013). Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics 194(2):459-71.<a href="http://dx.doi.org/doi:10.1534/genetics.113.150029" target="_blank">doi:10.1534/genetics.113.150029</a></p><p>Address of the bookmark: <a href="http://faculty.washington.edu/browning/beagle/beagle.html" rel="nofollow">http://faculty.washington.edu/browning/beagle/beagle.html</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38526/versatile-genome-assembly-evaluation-with-quast-lg</guid>
	<pubDate>Fri, 21 Dec 2018 22:06:31 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38526/versatile-genome-assembly-evaluation-with-quast-lg</link>
	<title><![CDATA[Versatile genome assembly evaluation with QUAST-LG]]></title>
	<description><![CDATA[<p>QUAST-LG is an extension of&nbsp;<a href="http://cab.spbu.ru/software/quast/">QUAST</a>&nbsp;intended for evaluating large-scale genome assemblies (up to mammalian-size).</p>
<p>QUAST-LG&nbsp;is included in the QUAST&nbsp; package starting from version 5.0.0 (<a href="https://sourceforge.net/projects/quast/files/latest/download?source=files">download the latest release</a>). Run QUAST as usual and do not forget to add&nbsp;<span>‐‐large</span>&nbsp;option to your command!</p>
<p>A short list of the new features (see&nbsp;<a href="http://cab.spbu.ru/files/quast/latest-docs/CHANGES.txt">CHANGES</a>&nbsp;for all):</p>
<ul>
<li>Significant speedup achieved by both&nbsp;use of new fast aligner (<a href="https://github.com/lh3/minimap2">minimap2</a>) and the refactoring of alignment analyzing&nbsp;modules</li>
<li>New k-mer-based completeness and correctness metrics</li>
<li>BUSCO added for enhanced reference-free analysis</li>
<li>The concept of upper bound&nbsp;assembly (theoretical limits on the assembly&nbsp;completeness and&nbsp;contiguity for a given genome and set of reads)</li>
</ul><p>Address of the bookmark: <a href="http://cab.spbu.ru/software/quast-lg/" rel="nofollow">http://cab.spbu.ru/software/quast-lg/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/38765/list-of-tools-frequently-used-while-genome-assembly</guid>
	<pubDate>Tue, 22 Jan 2019 09:39:02 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/38765/list-of-tools-frequently-used-while-genome-assembly</link>
	<title><![CDATA[List of tools frequently used while genome assembly]]></title>
	<description><![CDATA[<h4>List of tools frequently used while genome assembly:</h4><p>I have used the following assemblers</p><ul>
<li><a href="http://bioinf.spbau.ru/spades">Spades</a>&nbsp;(v. 3.10.1)</li>
<li><a href="http://canu.readthedocs.io/en/stable/index.html">CANU</a>&nbsp;(v. 1.6)</li>
<li><a href="https://github.com/rrwick/Unicycler">Unicycler&nbsp;</a>(v. v0.4.1)</li>
<li><a href="https://github.com/lh3/miniasm">Miniasm</a>&nbsp;(v. 0.2-r137-dirty)</li>
</ul><p>I have used the following mappers</p><ul>
<li><a href="https://github.com/lh3/minimap2">minimap2</a>&nbsp;(v.&nbsp;2.0rc1-r232)</li>
<li><a href="https://github.com/lh3/minimap">minimap&nbsp;</a>(v. 0.2-r124-dirty)</li>
<li><a href="https://github.com/lh3/bwa">bwa</a>&nbsp;(v.&nbsp;0.7.12-r1039)</li>
</ul><p>I have used the following polishing tools</p><ul>
<li><a href="https://github.com/isovic/racon">Racon</a>&nbsp;(v. not available)</li>
<li><a href="https://github.com/broadinstitute/pilon">Pilon</a>&nbsp;(v. 1.18)</li>
<li><a href="https://github.com/jts/nanopolish">Nanopolish</a>&nbsp;(v. 0.8.3)</li>
</ul><p>I have used the following tools to assess genome assembly characteristics</p><ul>
<li><a href="https://github.com/chjp/ANI">ANI.pl</a>&nbsp;(https://github.com/chjp/ANI)</li>
<li><a href="http://ecogenomics.github.io/CheckM/">CheckM</a>&nbsp;(v. 1.0.7)</li>
<li><a href="https://github.com/tseemann/prokka">Prokka</a>&nbsp;(v. 1.12)</li>
<li><a href="http://bioinf.spbau.ru/en/quast">QUAST</a>&nbsp;(v. 2.3)</li>
<li><a href="http://mummer.sourceforge.net/">mummer&nbsp;</a>(v. not available)</li>
</ul><p>If you have any ideas or superior tools we have missed please let us know in the comments.</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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