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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/36893?offset=200</link>
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	<description><![CDATA[]]></description>
	
	<item>
	<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>
</item>
<item>
	<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>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36621/hapcut2-robust-and-accurate-haplotype-assembly-for-diverse-sequencing-technologies</guid>
	<pubDate>Tue, 15 May 2018 07:35:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36621/hapcut2-robust-and-accurate-haplotype-assembly-for-diverse-sequencing-technologies</link>
	<title><![CDATA[HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies]]></title>
	<description><![CDATA[HapCUT2 is a maximum-likelihood-based tool for assembling haplotypes from DNA sequence reads, designed to "just work" with excellent speed and accuracy. We found that previously described haplotype assembly methods are specialized for specific read technologies or protocols, with slow or inaccurate performance on others. With this in mind, HapCUT2 is designed for speed and accuracy across diverse sequencing technologies, including but not limited to:

NGS short reads (Illumina HiSeq)
clone-based sequencing (Fosmid or BAC clones)
SMRT reads (PacBio)
Oxford Nanopore reads
10X Genomics Linked-Reads
proximity-ligation (Hi-C) reads
high-coverage sequencing (&gt;40x coverage-per-SNP) using above technologies
combinations of the above technologies (e.g. scaffold long reads with Hi-C reads)
See below for specific examples of command line options and best practices for some of these technologies.

NOTE: At this time HapCUT2 is for diploid organisms only. VCF input should contain diploid variants.

If you use HapCUT2 in your research, please cite:

Edge, P., Bafna, V. &amp; Bansal, V. HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies. Genome Res. gr.213462.116 (2016). doi:10.1101/gr.213462.116<p>Address of the bookmark: <a href="https://github.com/vibansal/HapCUT2" rel="nofollow">https://github.com/vibansal/HapCUT2</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<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>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37291/transrate-understanding-your-transcriptome-assembly</guid>
	<pubDate>Fri, 13 Jul 2018 07:49:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37291/transrate-understanding-your-transcriptome-assembly</link>
	<title><![CDATA[transrate: Understanding your transcriptome assembly]]></title>
	<description><![CDATA[<p><span>Transrate is software for&nbsp;</span><em>de-novo</em><span>&nbsp;transcriptome assembly quality analysis. It examines your assembly in detail and compares it to experimental evidence such as the sequencing reads, reporting quality scores for contigs and assemblies. This allows you to choose between assemblers and parameters, filter out the bad contigs from an assembly, and help decide when to stop trying to improve the assembly.</span></p><p>Address of the bookmark: <a href="http://hibberdlab.com/transrate/index.html" rel="nofollow">http://hibberdlab.com/transrate/index.html</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37785/haplomerger2-rebuilding-both-haploid-sub-assemblies-from-high-heterozygosity-diploid-genome-assembly</guid>
	<pubDate>Thu, 27 Sep 2018 07:08:47 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37785/haplomerger2-rebuilding-both-haploid-sub-assemblies-from-high-heterozygosity-diploid-genome-assembly</link>
	<title><![CDATA[HaploMerger2: rebuilding both haploid sub-assemblies from high-heterozygosity diploid genome assembly]]></title>
	<description><![CDATA[<p><span><span>HM2 can process any diploid assemblies, but it is especially suitable for diploid assemblies with high heterozygosity (&ge;3%), which can be difficult for other tools. This pipeline also implements flexible and sensitive assembly error detection, a hierarchical scaffolding procedure and a reliable gap-closing method for haploid sub-assemblies.</span></span></p>
<p><span>Source code, executables and the testing dataset are freely available at&nbsp;</span><a href="https://github.com/mapleforest/HaploMerger2/releases/" target="">https://github.com/mapleforest/HaploMerger2/releases/</a><span>.</span></p><p>Address of the bookmark: <a href="https://github.com/mapleforest/HaploMerger2/releases/" rel="nofollow">https://github.com/mapleforest/HaploMerger2/releases/</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38063/referee-genome-assembly-quality-scores</guid>
	<pubDate>Sun, 04 Nov 2018 16:44:30 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38063/referee-genome-assembly-quality-scores</link>
	<title><![CDATA[Referee: Genome assembly quality scores]]></title>
	<description><![CDATA[<p>Modern genome sequencing technologies provide a succint measure of quality at each position in every read, however all of this information is lost in the assembly process. Referee summarizes the quality information from the reads that map to a site in an assembled genome to calculate a quality score for each position in the genome assembly.</p>
<p>We accomplish this by first calculating genotype likelihoods for every site. For a given site in a diploid genome, there are 10 possible genotypes (AA, AC, AG, AT, CC, CG, CT, GG, GT, TT). Referee takes as input the genotype likelihoods calculated for all 10 genotypes given the called reference base at each position.</p>
<h3>Referee is a program to calculate a quality score for every position in a genome assembly. This allows for easy filtering of low quality sites for any downstream analysis.</h3>
<p>https://github.com/gwct/referee</p><p>Address of the bookmark: <a href="https://gwct.github.io/referee/#" rel="nofollow">https://gwct.github.io/referee/#</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38505/allhic-phasing-and-scaffolding-polyploid-genomes-based-on-hi-c-data</guid>
	<pubDate>Thu, 20 Dec 2018 12:03:32 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38505/allhic-phasing-and-scaffolding-polyploid-genomes-based-on-hi-c-data</link>
	<title><![CDATA[ALLHiC: Phasing and scaffolding polyploid genomes based on Hi-C data]]></title>
	<description><![CDATA[<p><span>The major problem of scaffolding polyploid genome is that Hi-C signals are frequently detected between allelic haplotypes and any existing stat of art Hi-C scaffolding program links the allelic haplotypes together. To solve the problem, we developed a new Hi-C scaffolding pipeline, called ALLHIC, specifically tailored to the polyploid genomes. ALLHIC pipeline contains a total of 5 steps:&nbsp;</span><em>prune</em><span>,&nbsp;</span><em>partition</em><span>,&nbsp;</span><em>rescue</em><span>,&nbsp;</span><em>optimize</em><span>&nbsp;and&nbsp;</span><em>build</em><span>.</span></p><p>Address of the bookmark: <a href="https://github.com/tangerzhang/ALLHiC/wiki" rel="nofollow">https://github.com/tangerzhang/ALLHiC/wiki</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38755/svaba-genome-wide-detection-of-structural-variants-and-indels-by-local-assembly</guid>
	<pubDate>Mon, 21 Jan 2019 17:58:56 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38755/svaba-genome-wide-detection-of-structural-variants-and-indels-by-local-assembly</link>
	<title><![CDATA[SvABA: Genome-wide detection of structural variants and indels by local assembly]]></title>
	<description><![CDATA[<p><span>SvABA is a method for detecting structural variants in sequencing data using genome-wide local assembly. Under the hood, SvABA uses a custom implementation of&nbsp;</span><a href="https://github.com/jts/sga">SGA</a><span>&nbsp;(String Graph Assembler) by Jared Simpson, and&nbsp;</span><a href="https://github.com/lh3/bwa">BWA-MEM</a><span>&nbsp;by Heng Li. Contigs are assembled for every 25kb window (with some small overlap) for every region in the genome. The default is to use only clipped, discordant, unmapped and indel reads, although this can be customized to any set of reads at the command line using&nbsp;</span><a href="https://github.com/walaj/VariantBam">VariantBam</a><span>&nbsp;rules. These contigs are then immediately aligned to the reference with BWA-MEM and parsed to identify variants. Sequencing reads are then realigned to the contigs with BWA-MEM, and variants are scored by their read support.</span></p><p>Address of the bookmark: <a href="https://github.com/walaj/svaba" rel="nofollow">https://github.com/walaj/svaba</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/file/view/38886/evaluation-of-genome-assembly-software-based-on-long-reads</guid>
	<pubDate>Fri, 01 Feb 2019 11:55:54 -0600</pubDate>
	<link>https://bioinformaticsonline.com/file/view/38886/evaluation-of-genome-assembly-software-based-on-long-reads</link>
	<title><![CDATA[Evaluation of genome assembly software based on long reads]]></title>
	<description><![CDATA[<p>TGS technologies have been used to produce highly accurate de novo assemblies of hundreds of microbial genomes and highly contiguous reconstructions of many dozens of plant and animal genomes, enabling new insights into evolution and sequence diversity. They have also been applied to resequencing analyses, to create detailed maps of structural variations in many species. Also, these new technologies have been used to fill in many of the gaps in the human reference genome.</p><p>In this report, we compare and evaluate several genome assembly software based on TSG technology. The experimentation has been performed on 4 reference genomes and the results evaluated with the QUAST software. The 11 software that have been evaluated are: Celera Assembler , Falcon , Miniasm, Newbler , SGA Assembler, Smartdenovo, Abruijn, Ra, DBG2OLC, Spades and Cerulean. The first 8 software use only long reads, while the 3 last software can merge long and short reads</p>]]></description>
	<dc:creator>BioStar</dc:creator>
	<enclosure url="https://bioinformaticsonline.com/file/download/38886" length="382699" type="application/pdf" />
</item>

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