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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/31105?offset=320</link>
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	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/30104/structural-variation-the-hidden-genomic-treasure</guid>
	<pubDate>Sat, 10 Dec 2016 16:19:09 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/30104/structural-variation-the-hidden-genomic-treasure</link>
	<title><![CDATA[Structural variation: the hidden genomic treasure]]></title>
	<description><![CDATA[<p>Genome re-sequencing projects have revealed substantial amounts of genetic variation between individuals extending beyond single nucleotide polymorphisms (SNPs) and short indels. Structural Variations (SVs) and Copy Number Variations (CNVs) are a major source of genomic variation. However, compared to SNPs, accurate detection, genotyping and understanding of CNVs is lagging behind due to much greater analytical challenges related to SV/CNV detection and analysis. In our lab we analyse SVs/CNVs using high-throughput sequencing and different analytical approaches.&nbsp;The most‐studied structural variants are copy number variations (CNVs) which can be generated by several different mechanisms including non‐allelic homologous recombination, non‐homologous end‐joining and deoxyribonucleic acid (DNA) replication‐related fork stalling and template switching. CNVs are closely related to segmental duplications (SDs): SDs can stimulate the formation of CNVs and themselves started out as CNVs, but became fixed in a species. Structural variation can be neutral but has also influenced our phenotypic evolution, for example our susceptibility to disease and our ability to digest certain types of food. Our understanding of the extent of structural variation is increasing rapidly, but it will be much more difficult to understand its phenotypic consequences.&nbsp;</p><p><img src="http://www.nature.com/nmeth/journal/v9/n2/images/nmeth.1858-F3.jpg" alt="image" width="946" height="603" style="border: 0px; border: 0px;"></p><p>Structural variants (SVs) such as deletions, insertions, duplications, inversions and translocations litter genomes and are often associated with gene expression changes and severe phenotypes (ie. genetic diseases in humans). Recent studies on the functional aspects of different types of SVs have unveiled several cases of adaptive evolution. For example, inversions have been associated with ecological adaptations and may facilitate speciation. Due to their prevalent nature, SVs arguably have a large impact on genome evolution and should not be neglected when studying the genetics of adaptation and speciation.&nbsp;SVs were classically defined as chromosomal rearrangements larger than 1kb, but due to a higher resolution of new detection methods, smaller variants (between 50 and 1000 base pairs) can now be accurately assessed. Besides various methods of detection in next generation sequencing data (paired end mapping, split reads, and depth of coverage), array-based approaches have proven to be particularly useful for detecting copy number variations (CNVs). These technologies have enabled researchers to catalog a wide spectrum of SVs in many organisms and infer the effects of selection shaping their evolutionary trajectories.</p><p><strong>Structure variation sequencing signature (Source: NatRev Genetics)</strong></p><p><img src="http://www.nature.com/nrg/journal/v12/n5/images/nrg2958-f2.jpg" alt="image" width="800" height="824" style="border: 0px; border: 0px;"></p><p>Related tools, databases and publications are listed below. If you know any interesing papers, please let us know in comment section:</p><p><br /><strong>Key concepts</strong></p><p>Structural variation includes balanced variants such as inversions and translocations, and unbalanced ones such as duplications and deletions (copy number variations or CNVs).</p><p>Structural variants can arise by several mechanisms, including nonallelic homologous recombination (NAHR), nonhomologous end‐joining (NHEJ) and DNA replication‐based fork stalling and template switching (FoSTeS).</p><p>CNV is closely linked to segmental duplication, but is not exactly the same. Segmental duplications can stimulate CNV formation by NAHR, and themselves arise from CNVs that have become fixed.</p><p>Segmental duplications did not appear uniformly during the evolution of the Great Ape species, but rather during a burst of activity around the time of the divergence of gorilla from the human/chimpanzee ancestor.</p><p>Duplicated genes play a critical role in the evolution of a genome as they act as &lsquo;spare parts&rsquo; than can evolve to perform new or more specialized functions.</p><p>Effects of structural variation on gene expression can be identified but only a few examples of the consequences for species biology have been documented.</p><p><strong style="font-size: 12.8px;">Tools</strong></p><p><a href="http://sv.gersteinlab.org/cnvnator">CNVnator</a>a tool for CNV discovery and genotyping from depth of read mapping.<a href="http://www.ncbi.nlm.nih.gov/pubmed/21293372">2011a</a>,<a href="http://www.ncbi.nlm.nih.gov/pubmed/21324876">2011b</a></p><p><a href="http://sv.gersteinlab.org/age">AGE</a>a tools that implements an algorithm for optimal alignment of sequences with SVs.<a href="http://www.ncbi.nlm.nih.gov/pubmed/21233167">2011</a></p><p><a href="http://sv.gersteinlab.org/breakseq">BreakSeq</a>a pipeline for annotation, classification and analysis of SVs at single nucleotide resolution.<a href="http://www.ncbi.nlm.nih.gov/pubmed/20037582">2010</a></p><p><a href="http://sv.gersteinlab.org/pemer">PEMer</a>a computational and simulation framework for discovering SVs by paired-end read mapping.<a href="http://www.ncbi.nlm.nih.gov/pubmed/19236709">2009</a>,<a href="http://www.ncbi.nlm.nih.gov/pubmed/17901297">2007</a></p><p>GASV https://code.google.com/archive/p/gasv/</p><p>PAIROSCOPE http://pairoscope.sourceforge.net/</p><p>SVDetect&nbsp;http://svdetect.sourceforge.net/Site/Home.html</p><p>BreakPtr, discovery of unbalanced structural variants (copy-number variants) with tiling microarrays&nbsp;<a href="http://tiling.mbb.yale.edu/BreakPtr/" target="_top">Link</a>&nbsp;</p><p>R Package&nbsp;https://www.bioconductor.org/help/course-materials/2010/EMBL2010/Practical-4-StructuralVariants.pdf<br /><br />BreakSeq, structural variant genotyping using split reads&nbsp;<a href="http://sv.gersteinlab.org/breakseq/" target="_top">Link</a>&nbsp;<br /><br />CopySeq, genotyping of unbalanced structural variants (copy-number variants) using read-depth&nbsp;<a href="http://www.korbel.embl.de/CopySeq/" target="_top">Link</a>&nbsp;<br /><br />DELLY2, integrated structural variant discovery, genotyping and visualization in deep sequencing data&nbsp;<a href="https://github.com/dellytools/delly" target="_top">Link</a>&nbsp;<br /><br />PEMer, structural variant discovery in 454 sequencing data by paired-end mapping&nbsp;<a href="http://www.korbel.embl.de/PEMer/" target="_top">Link</a>&nbsp;<br /><br />TIGER, transduction inference in germline genomes using short read data&nbsp;<a href="https://github.com/jelena-tica/TIGER" target="_top">Link</a>&nbsp;</p><p>MANTA&nbsp;https://github.com/Illumina/manta</p><p>SV-Bay&nbsp;https://github.com/InstitutCurie/SV-Bay</p><p>BreakDancer&nbsp;http://breakdancer.sourceforge.net/</p><p>Variation Hunter&nbsp;http://compbio.cs.sfu.ca/software-variation-hunter</p><p>Lumpy&nbsp;https://github.com/arq5x/lumpy-sv</p><p>ForestSV&nbsp;http://sebatlab.ucsd.edu/index.php/software-data&nbsp;</p><p>PBSuites for long reads&nbsp;https://sourceforge.net/projects/pb-jelly/</p><p><strong>Visualization</strong></p><p>The SV visualization tool:&nbsp;<a href="http://genomesavant.com/savant/">http://genomesavant.com/savant/</a></p><p>InGAP-SV (<a href="http://ingap.sourceforge.net/">http://ingap.sourceforge.net/</a>) that is nice tools for both detection and visualisation of severals kind of structural variations (Large insertions, translocation, deletion, inversions....)&nbsp;</p><p>Tools table: http://www.nature.com/nbt/journal/v29/n8/fig_tab/nbt.1904_T2.html</p><p>Variation Viewer https://www.ncbi.nlm.nih.gov/variation/view/</p><p><strong style="font-size: 12.8px;">Papers</strong></p><p>http://www.nature.com/nmeth/journal/v9/n2/full/nmeth.1858.html</p><p>http://journal.frontiersin.org/researchtopic/1412/structural-variations-in-genomes-ecological-and-evolutionary-implications</p><p>http://www.mi.fu-berlin.de/wiki/pub/ABI/GenomicsLecture10Materials/structural-variation.pdf</p><p>http://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-015-1479-3</p><p>https://www.ncbi.nlm.nih.gov/dbvar/content/overview/</p><p>http://www.nature.com/subjects/structural-variation</p><p>https://eichlerlab.gs.washington.edu/news/NatMeth_Feb2012.pdf</p><p>https://www.ncbi.nlm.nih.gov/pubmed/19477992 ***</p><p>https://www.ncbi.nlm.nih.gov/pubmed/22452995</p><p>http://biorxiv.org/content/early/2016/09/06/073833</p><p>https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479793/</p><p>http://www.nature.com/articles/srep18501</p><p>http://www.genetics.org/content/202/1/351</p><p>http://www.cs.cmu.edu/~sssykim/teaching/s13/slides/Lecture_SVI.pdf</p><p>https://www.omicsonline.org/open-access/structural-variation-detection-from-next-generation-sequencing-2469-9853-S1-007.php?aid=69055</p><p>http://schatzlab.cshl.edu/presentations/2016/2016.01.12.PAG.Structural%20Variations.pdf</p><p>&nbsp;</p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/30236/pyscaf</guid>
	<pubDate>Mon, 19 Dec 2016 14:20:33 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/30236/pyscaf</link>
	<title><![CDATA[pyScaf]]></title>
	<description><![CDATA[<p>pyScaf orders contigs from genome assemblies utilising several types of information:</p>
<ul>
<li>paired-end (PE) and/or mate-pair libraries (<a href="https://github.com/lpryszcz/pyScaf#ngs-based-scaffolding">NGS-based mode</a>)</li>
<li>long reads (<a href="https://github.com/lpryszcz/pyScaf#scaffolding-based-on-long-reads">NGS-based mode</a>)</li>
<li>synteny to the genome of some related species (<a href="https://github.com/lpryszcz/pyScaf#reference-based-scaffolding">reference-based mode</a>)</li>
</ul>
<p>Scaffolding&nbsp;</p>
<p>In reference-based mode, pyScaf uses synteny to the genome of closely related species in order to order contigs and estimate distances between adjacent contigs.</p>
<p>Contigs are aligned globally (end-to-end) onto reference chromosomes, ignoring:</p>
<ul>
<li>matches not satisfying cut-offs (<code>--identity</code>&nbsp;and&nbsp;<code>--overlap</code>)</li>
<li>suboptimal matches (only best match of each query to reference is kept)</li>
<li>and removing overlapping matches on reference.</li>
</ul>
<p>In preliminary tests, pyScaf performed superbly on simulated heterozygous genomes based on&nbsp;<em>C. parapsilosis</em>&nbsp;(13 Mb; CANPA) and&nbsp;<em>A. thaliana</em>&nbsp;(119 Mb; ARATH) chromosomes, reconstructing correctly all chromosomes always for CANPA and nearly always for ARATH (<a href="https://www.dropbox.com/sh/bb7lwggo40xrwtc/AAAZ7pByVQQQ-WhUXZVeJaZVa/pyScaf?dl=0">Figures in dropbox</a>,&nbsp;<a href="https://docs.google.com/spreadsheets/d/1InBExy-qKDLj-upd8tlPItVSKc4mLepZjZxB31ii9OY/edit#gid=2036953672">CANPA table</a>,&nbsp;<a href="https://docs.google.com/spreadsheets/d/1InBExy-qKDLj-upd8tlPItVSKc4mLepZjZxB31ii9OY/edit#gid=1920757821">ARATH table</a>).<br>Runs took ~0.5 min for CANPA on&nbsp;<code>4 CPUs</code>&nbsp;and ~2 min for ARATH on&nbsp;<code>16 CPUs</code>.</p>
<p><span>Important remarks:</span></p>
<ul>
<li>Reduce your assembly before (fasta2homozygous.py) as any redundancy will likely break the synteny.</li>
<li>pyScaf works better with contigs than scaffolds, as scaffolds are often affected by mis-assemblies (no&nbsp;<em>de novo assembler</em>&nbsp;/ scaffolder is perfect...), which breaks synteny.</li>
<li>pyScaf works very well if divergence between reference genome and assembled contigs is below 20% at nucleotide level.</li>
<li>pyScaf deals with large rearrangements ie. deletions, insertion, inversions, translocations.&nbsp;<span>Note however, this is experimental implementation!</span></li>
<li>Consider closing gaps after scaffolding.</li>
</ul><p>Address of the bookmark: <a href="https://github.com/lpryszcz/pyScaf" rel="nofollow">https://github.com/lpryszcz/pyScaf</a></p>]]></description>
	<dc:creator>Bulbul</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44472/pipesnake-bioinformatics-best-practice-analysis-pipeline-for-phylogenomic-reconstruction</guid>
	<pubDate>Wed, 21 Feb 2024 06:19:41 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44472/pipesnake-bioinformatics-best-practice-analysis-pipeline-for-phylogenomic-reconstruction</link>
	<title><![CDATA[pipesnake: bioinformatics best-practice analysis pipeline for phylogenomic reconstruction]]></title>
	<description><![CDATA[<p dir="auto"><span>ausarg/pipesnake</span>&nbsp;is a bioinformatics best-practice analysis pipeline for phylogenomic reconstruction starting from short-read 'second-generation' sequencing data.</p>
<p dir="auto">The pipeline is built using&nbsp;<a href="https://www.nextflow.io/">Nextflow</a>, a workflow tool to run tasks across multiple compute infrastructures in a very portable manner. It uses Docker/Singularity containers making installation trivial and results highly reproducible. The&nbsp;<a href="https://www.nextflow.io/docs/latest/dsl2.html">Nextflow DSL2</a>&nbsp;implementation of this pipeline uses one container per process which makes it much easier to maintain and update software dependencies.</p><p>Address of the bookmark: <a href="https://github.com/AusARG/pipesnake" rel="nofollow">https://github.com/AusARG/pipesnake</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/30555/yaha</guid>
	<pubDate>Fri, 20 Jan 2017 05:38:05 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/30555/yaha</link>
	<title><![CDATA[YAHA]]></title>
	<description><![CDATA[<p>YAHA, a fast and flexible hash-based aligner. YAHA is as fast and accurate as BWA-SW at finding the single best alignment per query and is dramatically faster and more sensitive than both SSAHA2 and MegaBLAST at finding all possible alignments. Unlike other aligners that report all, or one, alignment per query, or that use simple heuristics to select alignments, YAHA uses a directed acyclic graph to find the optimal set of alignments that cover a query using a biologically relevant breakpoint penalty. YAHA can also report multiple mappings per defined segment of the query. We show that YAHA detects more breakpoints in less time than BWA-SW across all SV classes, and especially excels at complex SVs comprising multiple breakpoints.</p>
<p><strong>Availability:</strong> YAHA is currently supported on 64-bit Linux systems. Binaries and sample data are freely available for download from <a href="http://faculty.virginia.edu/irahall/YAHA" target="pmc_ext">http://faculty.virginia.edu/irahall/YAHA</a>.</p>
<p><strong>Contact:</strong></p>
<p>http://genome.wustl.edu/people/groups/detail/hall-lab/</p><p>Address of the bookmark: <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463118/" rel="nofollow">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463118/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34416/miniasm-very-fast-olc-based-de-novo-assembler-for-noisy-long-reads</guid>
	<pubDate>Mon, 27 Nov 2017 07:58:49 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34416/miniasm-very-fast-olc-based-de-novo-assembler-for-noisy-long-reads</link>
	<title><![CDATA[miniasm: very fast OLC-based de novo assembler for noisy long reads]]></title>
	<description><![CDATA[<p>Miniasm is a very fast OLC-based&nbsp;<em>de novo</em>&nbsp;assembler for noisy long reads. It takes all-vs-all read self-mappings (typically by&nbsp;<a href="https://github.com/lh3/minimap">minimap</a>) as input and outputs an assembly graph in the&nbsp;<a href="https://github.com/pmelsted/GFA-spec/blob/master/GFA-spec.md">GFA</a>&nbsp;format. Different from mainstream assemblers, miniasm does not have a consensus step. It simply concatenates pieces of read sequences to generate the final&nbsp;<a href="http://wgs-assembler.sourceforge.net/wiki/index.php/Celera_Assembler_Terminology">unitig</a>&nbsp;sequences. Thus the per-base error rate is similar to the raw input reads.</p>
<p>So far miniasm is in early development stage. It has only been tested on a dozen of PacBio and Oxford Nanopore (ONT) bacterial data sets. Including the mapping step, it takes about 3 minutes to assemble a bacterial genome. Under the default setting, miniasm assembles 9 out of 12 PacBio datasets and 3 out of 4 ONT datasets into a single contig. The 12 PacBio data sets are&nbsp;<a href="https://github.com/PacificBiosciences/DevNet/wiki/E.-coli-Bacterial-Assembly">PacBio E. coli sample</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS473430">ERS473430</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS544009">ERS544009</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS554120">ERS554120</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS605484">ERS605484</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS617393">ERS617393</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS646601">ERS646601</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS659581">ERS659581</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS670327">ERS670327</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS685285">ERS685285</a>,&nbsp;<a href="http://www.ebi.ac.uk/ena/data/view/ERS743109">ERS743109</a>&nbsp;and a&nbsp;<a href="https://github.com/PacificBiosciences/DevNet/wiki/E.-coli-20kb-Size-Selected-Library-with-P6-C4/ce0533c1d2a957488594f0b29da61ffa3e4627e8">deprecated PacBio E. coli data set</a>. ONT data are acquired from the&nbsp;<a href="http://lab.loman.net/2015/09/24/first-sqk-map-006-experiment/">Loman Lab</a>.</p>
<p>For a&nbsp;<em>C. elegans</em>&nbsp;<a href="https://github.com/PacificBiosciences/DevNet/wiki/C.-elegans-data-set">PacBio data set</a>&nbsp;(only 40X are used, not the whole dataset), miniasm finishes the assembly, including reads overlapping, in ~10 minutes with 16 CPUs. The total assembly size is 105Mb; the N50 is 1.94Mb. In comparison, the&nbsp;<a href="https://github.com/PacificBiosciences/Bioinformatics-Training/wiki/HGAP">HGAP3</a>produces a 104Mb assembly with N50 1.61Mb.&nbsp;<a href="http://lh3lh3.users.sourceforge.net/download/ce-miniasm.png">This dotter plot</a>&nbsp;gives a global view of the miniasm assembly (on the X axis) and the HGAP3 assembly (on Y). They are broadly comparable. Of course, the HGAP3 consensus sequences are much more accurate. In addition, on the whole data set (assembled in ~30 min), the miniasm N50 is reduced to 1.79Mb. Miniasm still needs improvements.</p>
<p>Miniasm confirms that at least for high-coverage bacterial genomes, it is possible to generate long contigs from raw PacBio or ONT reads without error correction. It also shows that&nbsp;<a href="https://github.com/lh3/minimap">minimap</a>&nbsp;can be used as a read overlapper, even though it is probably not as sensitive as the more sophisticated overlapers such as&nbsp;<a href="https://github.com/marbl/MHAP">MHAP</a>&nbsp;and&nbsp;<a href="https://github.com/thegenemyers/DALIGNER">DALIGNER</a>. Coupled with long-read error correctors and consensus tools, miniasm may also be useful to produce high-quality assemblies.</p>
<p>Minimap and miniasm are ultrafast tools for (i) mapping and (ii) assembly. Designed for long, noisy reads, they do not have a correction or consensus step, and therefore the resulting assemblies are contiguous (i.e. long) but very noisy (i.e. full of errors)</p>
<p>We start with an all against all comparison:</p>
<div>
<pre><code>minimap -Sw5 -L100 -m0 -t8 reads.fq reads.fq | gzip -1 &gt; reads.paf.gz
</code></pre>
</div>
<p>Then we can assemble</p>
<div>
<pre><code>miniasm -f reads.fq reads.paf.gz &gt; reads.gfa
</code></pre>
</div>
<p>Convert GFA to FASTA:</p>
<div>
<pre><code>awk <span>'/^S/{print "&gt;"$2"\n"$3}'</span> reads.gfa | fold &gt; reads.fa
</code></pre>
</div>
<p>And then count how many contigs:</p>
<div>
<pre><code>grep <span>"&gt;"</span> reads.fa | wc -l</code></pre>
</div>
<p>&nbsp;</p>
<pre><span><span>#</span> Download sample PacBio from the PBcR website</span>
wget -O- http://www.cbcb.umd.edu/software/PBcR/data/selfSampleData.tar.gz <span>|</span> tar zxf -
ln -s selfSampleData/pacbio_filtered.fastq reads.fq
<span><span>#</span> Install minimap and miniasm (requiring gcc and zlib)</span>
git clone https://github.com/lh3/minimap <span>&amp;&amp;</span> (cd minimap <span>&amp;&amp;</span> make)
git clone https://github.com/lh3/miniasm <span>&amp;&amp;</span> (cd miniasm <span>&amp;&amp;</span> make)
<span><span>#</span> Overlap</span>
minimap/minimap -Sw5 -L100 -m0 -t8 reads.fq reads.fq <span>|</span> gzip -1 <span>&gt;</span> reads.paf.gz
<span><span>#</span> Layout</span>
miniasm/miniasm -f reads.fq reads.paf.gz <span>&gt;</span> reads.gfa</pre><p>Address of the bookmark: <a href="https://github.com/lh3/miniasm" rel="nofollow">https://github.com/lh3/miniasm</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/31012/genomecomp</guid>
	<pubDate>Fri, 17 Feb 2017 08:38:32 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/31012/genomecomp</link>
	<title><![CDATA[GenomeComp]]></title>
	<description><![CDATA[<p>GenomeComp is a tool for summarizing, parsing and visualizing the genome wide sequence comparison results derived from voluminous BLAST textual output, so as to locate the rearrangements, insertions or deletions of genome segments between species or strains.<br><br>It can be easily used to compare, parsing and visualize large genomic sequences, especially closely related genomes such as inter-species or inter-strains. In addition, it can also show other sequence features like repeat sequence distributions in one whole-genome DNA sequence by comparing the genome to itself.<br><br>It is a stand-alone graphical user interface (GUI) program which runs on Linux, Unix, Mac OS X (tested on version 10.2.4 only) and Microsoft Windows platforms and is written in Perl/Tk.</p><p>Address of the bookmark: <a href="http://www.mgc.ac.cn/GenomeComp/" rel="nofollow">http://www.mgc.ac.cn/GenomeComp/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37223/chopstitch-exon-annotation-and-splice-graph-construction-using-transcriptome-assembly-and-whole-genome-sequencing-data</guid>
	<pubDate>Tue, 03 Jul 2018 04:14:52 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37223/chopstitch-exon-annotation-and-splice-graph-construction-using-transcriptome-assembly-and-whole-genome-sequencing-data</link>
	<title><![CDATA[ChopStitch: exon annotation and splice graph construction using transcriptome assembly and whole genome sequencing data]]></title>
	<description><![CDATA[ChopStitch is a new method for finding putative exons and constructing splice graphs using an assembled transcriptome and whole genome shotgun sequencing (WGSS) data. ChopStitch identifies exon-exon boundaries in de novo assembled RNA-seq data with the help of a Bloom filter that represents the k-mer spectrum of WGSS reads. The algorithm also detects base substitutions in transcript sequences corresponding to sequencing or assembly errors, haplotype variations, or putative RNA editing events. The primary output of our tool is a FASTA file containing putative exons. Further, exon edges are interrogated for alternative exon-exon boundaries to detect transcript isoforms, which are reported as splice graphs in dot output format.<p>Address of the bookmark: <a href="https://github.com/bcgsc/ChopStitch" rel="nofollow">https://github.com/bcgsc/ChopStitch</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37554/finishersca-repeat-aware-tool-for-upgrading-de-novo-assembly-using-long-reads</guid>
	<pubDate>Mon, 20 Aug 2018 04:08:50 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37554/finishersca-repeat-aware-tool-for-upgrading-de-novo-assembly-using-long-reads</link>
	<title><![CDATA[FinisherSC:a repeat-aware tool for upgrading de novo assembly using long reads]]></title>
	<description><![CDATA[<p><br>Here is the command to run the tool:</p>
<pre><code>python finisherSC.py destinedFolder mummerPath
</code></pre>
<p>If you are running on server computer and would like to use multiple threads, then the following commands can generate 20 threads to run FinisherSC.</p>
<pre><code>python finisherSC.py -par 20 destinedFolder mummerPath
</code></pre>
<p>Sometimes, if the names of raw reads and contigs consists of special characters/formats, FinisherSC/MUMmer may not parse them correctly. In that case, you want to have a quick renaming of the names of contigs/reads in contigs.fasta or raw_reads.fasta using the following command.</p>
<pre><code>    perl -pe 's/&gt;[^\$]*$/"&gt;Seg" . ++$n ."\n"/ge' raw_reads.fasta &gt; newRaw_reads.fasta
    cp newRaw_reads.fasta raw_reads.fasta
    perl -pe 's/&gt;[^\$]*$/"&gt;Seg" . ++$n ."\n"/ge' contigs.fasta &gt; newContigs.fasta
    cp newContigs.fasta contigs.fasta</code></pre><p>Address of the bookmark: <a href="https://github.com/kakitone/finishingTool" rel="nofollow">https://github.com/kakitone/finishingTool</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38413/genobuntu-a-software-package-containing-more-than-70-software-and-packages-oriented-towards-ngs-and-genome-assembly</guid>
	<pubDate>Tue, 11 Dec 2018 05:15:57 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38413/genobuntu-a-software-package-containing-more-than-70-software-and-packages-oriented-towards-ngs-and-genome-assembly</link>
	<title><![CDATA[Genobuntu: A software package containing more than 70 software and packages oriented towards NGS and genome assembly]]></title>
	<description><![CDATA[<p><span>Genobuntu is a software package containing more than 70 software and packages oriented towards NGS. In its current version, Genobuntu supports pre assembly tools, genome assemblers as well as post assembly tools.&nbsp;</span><br><br><span>Commonly used biological software and example script files for different assembly pipelines have also been provided, where the example script files can be updated to suit one&rsquo;s experimental needs. Genobuntu attempts to reduce the amount of time and energy needed to build software workstations and it can also act as a good teaching source for a class room setting.&nbsp;</span></p>
<p>https://sourceforge.net/projects/genobuntu/</p><p>Address of the bookmark: <a href="https://sourceforge.net/projects/genobuntu/" rel="nofollow">https://sourceforge.net/projects/genobuntu/</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/32131/wgs-celera-assembler-version-83rc2</guid>
	<pubDate>Mon, 10 Apr 2017 04:45:40 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/32131/wgs-celera-assembler-version-83rc2</link>
	<title><![CDATA[WGS Celera Assembler version 8.3rc2]]></title>
	<description><![CDATA[<p>These are release notes for Celera Assembler version 8.3rc2, which was released on May 24, 2015.<br><br>This distribution package provides a stable, tested, documented version of the software.&nbsp; The distribution is usable on most Unix-like platforms, and some platforms have pre-compiled binary distributions ready for installation.<br><br>The source code package includes full source code (revision 4627), Makefiles, and scripts.&nbsp; A subset of the kmer package (http://kmer.sourceforge.net/, version r1994), used by some modules of Celera Assembler, is included.&nbsp; This distribution includes [http://samtools.sourceforge.net/ SAMtools], [http://www.cbcb.umd.edu/software/jellyfish/ Jellyfish 2.0], [https://github.com/pbjd/pbutgcns PBUTGCNS], [https://github.com/PacificBiosciences/pbdagcon PBDAGCON], [https://github.com/PacificBiosciences/BLASR BLASR], and parts of the [https://github.com/PacificBiosciences/FALCON/tree/v0.1.3 Falcon assembler].<br><br>Full documentation can be found online at http://wgs-assembler.sourceforge.net/.</p>
<p>Interesting scripts within it</p>
<p>urbe@urbo214b[bin] ls&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; []<br>-rwxrwxr-x 1 urbe urbe&nbsp; 11K Apr 10 11:41 addCNSToStore<br>-rwxrwxr-x 1 urbe urbe 575K Apr 10 11:41 addReadsToUnitigs<br>-rwxrwxr-x 1 urbe urbe 128K Apr 10 11:41 analyzeBest<br>-rwxrwxr-x 1 urbe urbe 257K Apr 10 11:41 analyzePosMap<br>-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 analyzeScaffolds<br>-rwxrwxr-x 1 urbe urbe 224K Apr 10 11:41 asmOutputFasta<br>-rwxrwxr-x 1 urbe urbe 448K Apr 10 11:41 asmOutputStatistics<br>-rwxrwxr-x 1 urbe urbe 2,4K Apr 10 11:41 asmToAGP.pl<br>-rwxrwxr-x 1 urbe urbe 7,6M Apr 10 11:41 blasr<br>-rwxrwxr-x 1 urbe urbe 1,6M Apr 10 11:41 bogart<br>-rwxrwxr-x 1 urbe urbe 183K Apr 10 11:41 bogus<br>-rwxrwxr-x 1 urbe urbe 272K Apr 10 11:41 bogusness<br>-rwxrwxr-x 1 urbe urbe 247K Apr 10 11:41 buildPosMap<br>-rwxrwxr-x 1 urbe urbe 213K Apr 10 11:41 buildRefContigs<br>-rwxrwxr-x 1 urbe urbe 990K Apr 10 11:41 buildUnitigs<br>-rwxrwxr-x 1 urbe urbe&nbsp; 18K Apr 10 11:41 ca2ace.pl<br>-rwxrwxr-x 1 urbe urbe&nbsp; 12K Apr 10 11:41 caqc_help.ini<br>-rwxrwxr-x 1 urbe urbe&nbsp; 61K Apr 10 11:41 caqc.pl<br>-rwxrwxr-x 1 urbe urbe&nbsp; 23K Apr 10 11:41 cat-corrects<br>-rwxrwxr-x 1 urbe urbe&nbsp; 24K Apr 10 11:41 cat-erates<br>-rwxrwxr-x 1 urbe urbe 1,9M Apr 10 11:41 cgw<br>-rwxrwxr-x 1 urbe urbe 1,4M Apr 10 11:41 cgwDump<br>-rwxrwxr-x 1 urbe urbe 204K Apr 10 11:41 chimChe<br>-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:40 chimera<br>-rwxrwxr-x 1 urbe urbe 220K Apr 10 11:41 classifyMates<br>-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:41 classifyMatesApply<br>-rwxrwxr-x 1 urbe urbe 215K Apr 10 11:41 classifyMatesPairwise<br>-rwxrwxr-x 1 urbe urbe 366K Apr 10 11:41 computeCoverageStat<br>-rwxrwxr-x 1 urbe urbe 9,8K Apr 10 11:41 convert-fasta-to-v2.pl<br>-rwxrwxr-x 1 urbe urbe&nbsp; 48K Apr 10 11:41 convertOverlap<br>-rwxrwxr-x 1 urbe urbe 119K Apr 10 11:41 convertSamToCA<br>-rwxrwxr-x 1 urbe urbe&nbsp; 20K Apr 10 11:41 convertToPBCNS<br>-rwxrwxr-x 1 urbe urbe 197K Apr 10 11:41 correct-frags<br>-rwxrwxr-x 1 urbe urbe 259K Apr 10 11:41 correct-olaps<br>-rwxrwxr-x 1 urbe urbe 520K Apr 10 11:41 correctPacBio<br>-rwxrwxr-x 1 urbe urbe 540K Apr 10 11:41 ctgcns<br>-rwxrwxr-x 1 urbe urbe 162K Apr 10 11:40 deduplicate<br>-rwxrwxr-x 1 urbe urbe&nbsp; 37K Apr 10 11:41 demotePosMap<br>-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 dumpCloneMiddles<br>-rwxrwxr-x 1 urbe urbe 124K Apr 10 11:41 dumpPBRLayoutStore<br>-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 dumpSingletons<br>-rwxrwxr-x 1 urbe urbe 171K Apr 10 11:41 erate-estimate<br>-rwxrwxr-x 1 urbe urbe 221K Apr 10 11:40 estimate-mer-threshold<br>-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 extendClearRanges<br>-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 extendClearRangesPartition<br>-rwxrwxr-x 1 urbe urbe 205K Apr 10 11:40 extractmessages<br>-rwxrwxr-x 1 urbe urbe 7,2M Apr 10 11:41 falcon_sense<br>-rwxrwxr-x 1 urbe urbe 9,8K Apr 10 11:41 fastaToCA<br>-rwxrwxr-x 1 urbe urbe 124K Apr 10 11:40 fastqAnalyze<br>-rwxrwxr-x 1 urbe urbe 137K Apr 10 11:40 fastqSample<br>-rwxrwxr-x 1 urbe urbe&nbsp; 62K Apr 10 11:40 fastqSimulate<br>-rwxrwxr-x 1 urbe urbe 121K Apr 10 11:40 fastqSimulate-sort<br>-rwxrwxr-x 1 urbe urbe 246K Apr 10 11:40 fastqToCA<br>-rwxrwxr-x 1 urbe urbe 140K Apr 10 11:41 filterOverlap<br>-rwxrwxr-x 1 urbe urbe 341K Apr 10 11:40 finalTrim<br>-rwxrwxr-x 1 urbe urbe 228K Apr 10 11:41 fixUnitigs<br>-rwxrwxr-x 1 urbe urbe 147K Apr 10 11:40 fragmentDepth<br>-rwxrwxr-x 1 urbe urbe&nbsp; 29K Apr 10 11:41 fragsInVars<br>-rwxrwxr-x 1 urbe urbe 545K Apr 10 11:41 frgs2clones<br>-rwxrwxr-x 1 urbe urbe 398K Apr 10 11:40 gatekeeper<br>-rwxrwxr-x 1 urbe urbe 139K Apr 10 11:40 gatekeeperbench<br>-rwxrwxr-x 1 urbe urbe 167K Apr 10 11:40 gkpStoreCreate<br>-rwxrwxr-x 1 urbe urbe 147K Apr 10 11:40 gkpStoreDumpFASTQ<br>-rwxrwxr-x 1 urbe urbe 184K Apr 10 11:41 greedyFragmentTiling<br>-rwxrwxr-x 1 urbe urbe 1,6K Apr 10 11:41 greedy_layout_to_IUM<br>-rwxrwxr-x 1 urbe urbe 142K Apr 10 11:40 initialTrim<br>-rwxrwxr-x 1 urbe urbe 967K Apr 10 11:41 jellyfish<br>-rwxrwxr-x 1 urbe urbe 219K Apr 10 11:41 markRepeatUnique<br>-rwxrwxr-x 1 urbe urbe 273K Apr 10 11:40 markUniqueUnique<br>-rwxrwxr-x 1 urbe urbe 114K Apr 10 11:40 mercy<br>-rwxrwxr-x 1 urbe urbe 3,8K Apr 10 11:41 mergeqc.pl<br>-rwxrwxr-x 1 urbe urbe 422K Apr 10 11:40 merTrim<br>-rwxrwxr-x 1 urbe urbe 125K Apr 10 11:40 merTrimApply<br>-rwxrwxr-x 1 urbe urbe 376K Apr 10 11:40 meryl<br>-rwxrwxr-x 1 urbe urbe 176K Apr 10 11:41 metagenomics_ovl_analyses<br>-rwxrwxr-x 1 urbe urbe 297K Apr 10 11:41 olap-from-seeds<br>-rwxrwxr-x 1 urbe urbe 275K Apr 10 11:41 outputLayout<br>-rwxrwxr-x 1 urbe urbe 229K Apr 10 11:41 overlapInCore<br>-rwxrwxr-x 1 urbe urbe 144K Apr 10 11:40 overlap_partition<br>-rwxrwxr-x 1 urbe urbe 179K Apr 10 11:41 overlapStats<br>-rwxrwxr-x 1 urbe urbe 179K Apr 10 11:41 overlapStore<br>-rwxrwxr-x 1 urbe urbe 153K Apr 10 11:41 overlapStoreBucketizer<br>-rwxrwxr-x 1 urbe urbe 175K Apr 10 11:41 overlapStoreBuild<br>-rwxrwxr-x 1 urbe urbe&nbsp; 33K Apr 10 11:41 overlapStoreIndexer<br>-rwxrwxr-x 1 urbe urbe&nbsp; 48K Apr 10 11:41 overlapStoreSorter<br>-rwxrwxr-x 1 urbe urbe 604K Apr 10 11:40 overmerry<br>lrwxrwxrwx 1 urbe urbe&nbsp;&nbsp;&nbsp; 4 Apr 10 11:41 pacBioToCA -&gt; PBcR<br>-rwxrwxr-x 1 urbe urbe 131K Apr 10 11:41 PBcR<br>-rwxrwxr-x 1 urbe urbe 2,9M Apr 10 11:41 pbdagcon<br>-rwxrwxr-x 1 urbe urbe 1,9M Apr 10 11:41 pbutgcns<br>-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:40 remove_fragment<br>-rwxrwxr-x 1 urbe urbe 153K Apr 10 11:40 removeMateOverlap<br>-rwxrwxr-x 1 urbe urbe 2,5K Apr 10 11:41 replaceUIDwithName-fastq<br>-rwxrwxr-x 1 urbe urbe 1,2K Apr 10 11:41 replaceUIDwithName-posmap<br>-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 resolveSurrogates<br>-rwxrwxr-x 1 urbe urbe 139K Apr 10 11:41 rewriteCache<br>-rwxrwxr-x 1 urbe urbe 232K Apr 10 11:41 runCA<br>-rwxrwxr-x 1 urbe urbe&nbsp; 88K Apr 10 11:41 runCA-dedupe<br>-rwxrwxr-x 1 urbe urbe&nbsp; 14K Apr 10 11:41 runCA-overlapStoreBuild<br>-rwxrwxr-x 1 urbe urbe 3,6K Apr 10 11:41 run_greedy.csh<br>-rwxrwxr-x 1 urbe urbe 297K Apr 10 11:40 sffToCA<br>-rwxrwxr-x 1 urbe urbe&nbsp; 13K Apr 10 11:40 show-corrects<br>-rwxrwxr-x 1 urbe urbe 557K Apr 10 11:41 splitUnitigs<br>-rwxrwxr-x 1 urbe urbe 1,4M Apr 10 11:41 terminator<br>drwxrwxr-x 2 urbe urbe 4,0K Apr 10 11:41 TIGR<br>-rwxrwxr-x 1 urbe urbe 526K Apr 10 11:41 tigStore<br>-rwxrwxr-x 1 urbe urbe&nbsp; 35K Apr 10 11:41 tracearchiveToCA<br>-rwxrwxr-x 1 urbe urbe&nbsp; 35K Apr 10 11:41 tracedb-to-frg.pl<br>-rwxrwxr-x 1 urbe urbe&nbsp; 44K Apr 10 11:41 trimFastqByQVWindow<br>-rwxrwxr-x 1 urbe urbe&nbsp; 18K Apr 10 11:40 uidclient<br>-rwxrwxr-x 1 urbe urbe 589K Apr 10 11:41 unitigger<br>-rwxrwxr-x 1 urbe urbe&nbsp; 42K Apr 10 11:40 upgrade-v8-to-v9<br>-rwxrwxr-x 1 urbe urbe&nbsp; 42K Apr 10 11:40 upgrade-v9-to-v10<br>-rwxrwxr-x 1 urbe urbe&nbsp; 854 Apr 10 11:41 utg2fasta<br>-rwxrwxr-x 1 urbe urbe 731K Apr 10 11:41 utgcns<br>-rwxrwxr-x 1 urbe urbe 561K Apr 10 11:41 utgcnsfix<br><br><br></p><p>Address of the bookmark: <a href="http://wgs-assembler.sourceforge.net/wiki/index.php/Main_Page" rel="nofollow">http://wgs-assembler.sourceforge.net/wiki/index.php/Main_Page</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

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