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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/37746?offset=170</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39453/fuma-gwas-functional-mapping-and-annotation-of-genome-wide-association-studies</guid>
	<pubDate>Sat, 01 Jun 2019 03:11:16 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39453/fuma-gwas-functional-mapping-and-annotation-of-genome-wide-association-studies</link>
	<title><![CDATA[FUMA GWAS: Functional Mapping and Annotation of Genome-Wide Association Studies]]></title>
	<description><![CDATA[<p><span>FUMA is a platform that can be used to annotate, prioritize, visualize and interpret GWAS results.&nbsp;</span><br><span>The&nbsp;</span><a href="https://fuma.ctglab.nl/snp2gene">SNP2GENE</a><span>&nbsp;function takes GWAS summary statistics as an input, and provides extensive functional annotation for all SNPs in genomic areas identified by lead SNPs.&nbsp;</span><br><span>The&nbsp;</span><a href="https://fuma.ctglab.nl/gene2func">GENE2FUNC</a><span>&nbsp;function takes a list of gene IDs (as identified by SNP2GENE or as provided manually) and annotates genes in biological context&nbsp;</span></p><p>Address of the bookmark: <a href="https://fuma.ctglab.nl/" rel="nofollow">https://fuma.ctglab.nl/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44892/grannot</guid>
	<pubDate>Sun, 31 Aug 2025 06:21:50 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44892/grannot</link>
	<title><![CDATA[GrAnnoT]]></title>
	<description><![CDATA[<p>GrAnnoT is an annotation transfer tool for pangenome graphs. It can transfer linear genome annotations to a pangenome graph containing the genome, and also transfer the pangenome graph's annotations on the genomes it contains. It also outputs complementary information such as the alignments of the transfered genes, or a presence-absence matrix.</p><p>Address of the bookmark: <a href="https://forge.ird.fr/diade/dynadiv/grannot" rel="nofollow">https://forge.ird.fr/diade/dynadiv/grannot</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<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>
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	<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>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34482/ribbon-visualizing-complex-genome-alignments-and-structural-variation</guid>
	<pubDate>Wed, 29 Nov 2017 07:40:22 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34482/ribbon-visualizing-complex-genome-alignments-and-structural-variation</link>
	<title><![CDATA[Ribbon: Visualizing complex genome alignments and structural variation:]]></title>
	<description><![CDATA[<p>Ribbon can be used for long reads, short reads, paired-end reads, and assembly/genome alignments. Instructions for each data format are available by clicking on "instructions" in each tab on the right.</p>
<p>Local installation:</p>
<p>You can install Ribbon locally from Github by following the instructions here:&nbsp;<a href="https://github.com/MariaNattestad/ribbon" target="_blank">https://github.com/MariaNattestad/Ribbon</a></p><p>Address of the bookmark: <a href="http://genomeribbon.com/" rel="nofollow">http://genomeribbon.com/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<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>
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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/35135/alitv%E2%80%94interactive-visualization-of-whole-genome-comparisons</guid>
	<pubDate>Wed, 10 Jan 2018 07:08:17 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/35135/alitv%E2%80%94interactive-visualization-of-whole-genome-comparisons</link>
	<title><![CDATA[AliTV—interactive visualization of whole genome comparisons]]></title>
	<description><![CDATA[<p>AliTV, which provides interactive visualization of whole genome alignments. AliTV reads multiple whole genome alignments or automatically generates alignments from the provided data. Optional feature annotations and phylo- genetic information are supported. The user-friendly, web-browser based and highly customizable interface allows rapid exploration and manipulation of the visualized data as well as the export of publication-ready high-quality figures. AliTV is freely available at&nbsp;<a href="https://github.com/AliTVTeam/AliTV">https://github.com/AliTVTeam/AliTV</a></p>
<p>https://alitvteam.github.io/AliTV/</p><p>Address of the bookmark: <a href="https://github.com/AliTVTeam/AliTV" rel="nofollow">https://github.com/AliTVTeam/AliTV</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/35543/genometools-the-versatile-open-source-genome-analysis-software</guid>
	<pubDate>Wed, 07 Feb 2018 10:44:18 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/35543/genometools-the-versatile-open-source-genome-analysis-software</link>
	<title><![CDATA[GenomeTools: The versatile open source genome analysis software]]></title>
	<description><![CDATA[<p>The&nbsp;<em>GenomeTools</em>&nbsp;genome analysis system is a&nbsp;<a href="http://genometools.org/license.html">free</a>&nbsp;collection of bioinformatics&nbsp;<a href="http://genometools.org/tools.html">tools</a>&nbsp;(in the realm of genome informatics) combined into a single binary named&nbsp;<em>gt</em>. It is based on a C library named &ldquo;libgenometools&rdquo; which consists of several modules.</p>
<p>If you are interested in gene prediction, have a look at&nbsp;<a href="http://genomethreader.org/" title="GenomeThreader gene prediction        software"><em>GenomeThreader</em></a>.</p><p>Address of the bookmark: <a href="http://genometools.org/" rel="nofollow">http://genometools.org/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36257/aligngraph-algorithm-for-secondary-de-novo-genome-assembly-guided-by-closely-related-references</guid>
	<pubDate>Tue, 17 Apr 2018 16:21:20 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36257/aligngraph-algorithm-for-secondary-de-novo-genome-assembly-guided-by-closely-related-references</link>
	<title><![CDATA[AlignGraph: algorithm for secondary de novo genome assembly guided by closely related references]]></title>
	<description><![CDATA[<p>AlignGraph is a software that extends and joins contigs or scaffolds by reassembling them with help provided by a reference genome of a closely related organism.</p>
<p>Using AlignGraph</p>
<pre><code>AlignGraph --read1 reads_1.fa --read2 reads_2.fa --contig contigs.fa --genome genome.fa --distanceLow distanceLow --distanceHigh distancehigh --extendedContig extendedContigs.fa --remainingContig remainingContigs.fa [--kMer k --insertVariation insertVariation --coverage coverage --part p --fastMap --ratioCheck --iterativeMap --misassemblyRemoval --resume]</code></pre>
<h3>&nbsp;</h3><p>Address of the bookmark: <a href="https://github.com/baoe/AlignGraph" rel="nofollow">https://github.com/baoe/AlignGraph</a></p>]]></description>
	<dc:creator>Manisha Mishra</dc:creator>
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