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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/34528?offset=50</link>
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	<description><![CDATA[]]></description>
	
	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36271/heap-a-highly-sensitive-and-accurate-snp-detection-tool-for-low-coverage-high-throughput-sequencing-data</guid>
	<pubDate>Thu, 19 Apr 2018 08:06:03 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36271/heap-a-highly-sensitive-and-accurate-snp-detection-tool-for-low-coverage-high-throughput-sequencing-data</link>
	<title><![CDATA[Heap: a highly sensitive and accurate SNP detection tool for low-coverage high-throughput sequencing data]]></title>
	<description><![CDATA[<p><span>Heap, that enables robustly sensitive and accurate calling of SNPs, particularly with a low coverage NGS data, which must be aligned to the reference genome sequences in advance. To reduce false positive SNPs, Heap determines genotypes and calls SNPs at each site except for sites at the both end of reads or containing a minor allele supported by only one read. Performance comparison with existing tools showed that Heap achieved the highest F-scores with low coverage (7X) restriction-site associated DNA sequencing reads of sorghum and rice individuals. This will facilitate cost-effective GWAS and GP studies in this NGS era. Code and documentation of Heap are freely available from&nbsp;</span><a href="https://github.com/meiji-bioinf/heap">https://github.com/meiji-bioinf/heap</a><span>&nbsp;and our web site (</span><a href="http://bioinf.mind.meiji.ac.jp/lab/en/tools.html">http://bioinf.mind.meiji.ac.jp/lab/en/tools.html</a><span>).</span></p><p>Address of the bookmark: <a href="https://github.com/meiji-bioinf/heap" rel="nofollow">https://github.com/meiji-bioinf/heap</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44641/heliano-a-fast-and-accurate-tool-for-detection-of-helitron-like-elements</guid>
	<pubDate>Tue, 13 Aug 2024 07:16:34 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44641/heliano-a-fast-and-accurate-tool-for-detection-of-helitron-like-elements</link>
	<title><![CDATA[HELIANO: A fast and accurate tool for detection of Helitron-like elements]]></title>
	<description><![CDATA[<p><span>Helitron-like elements (HLE1 and HLE2) are DNA transposons. They have been found in diverse species and seem to play significant roles in the evolution of host genomes. Although known for over twenty years, Helitron sequences are still challenging to identify. Here, we propose HELIANO (Helitron-like elements annotator) as an efficient solution for detecting Helitron-like elements.</span></p>
<p>https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkae679/7730539?login=true</p><p>Address of the bookmark: <a href="https://github.com/Zhenlisme/heliano/" rel="nofollow">https://github.com/Zhenlisme/heliano/</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/34418/spades-hybrid-genome-assembly</guid>
	<pubDate>Mon, 27 Nov 2017 08:05:40 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/34418/spades-hybrid-genome-assembly</link>
	<title><![CDATA[SPAdes hybrid genome assembly]]></title>
	<description><![CDATA[<p>When you have both Illumina and Nanopore data, then SPAdes remains a good option for hybrid assembly - SPAdes was used to produce the&nbsp;<a href="https://gigascience.biomedcentral.com/articles/10.1186/s13742-015-0101-6">B fragilis assembly</a>&nbsp;by Mick Watson&rsquo;s group.</p><p>Again, running spades.py will show you the options:</p><div><pre><code>spades.py
</code></pre></div><p>This produces:</p><div><pre><code>SPAdes genome assembler v3.10.1

Usage: /usr/local/SPAdes-3.10.1-Linux/bin/spades.py [options] -o &lt;output_dir&gt;

Basic options:
-o      &lt;output_dir&gt;    directory to store all the resulting files (required)
--sc                    this flag is required for MDA (single-cell) data
--meta                  this flag is required for metagenomic sample data
--rna                   this flag is required for RNA-Seq data
--plasmid               runs plasmidSPAdes pipeline for plasmid detection
--iontorrent            this flag is required for IonTorrent data
--test                  runs SPAdes on toy dataset
-h/--help               prints this usage message
-v/--version            prints version

Input data:
--12    &lt;filename&gt;      file with interlaced forward and reverse paired-end reads
-1      &lt;filename&gt;      file with forward paired-end reads
-2      &lt;filename&gt;      file with reverse paired-end reads
-s      &lt;filename&gt;      file with unpaired reads
--pe&lt;#&gt;-12      &lt;filename&gt;      file with interlaced reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--pe&lt;#&gt;-1       &lt;filename&gt;      file with forward reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--pe&lt;#&gt;-2       &lt;filename&gt;      file with reverse reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--pe&lt;#&gt;-s       &lt;filename&gt;      file with unpaired reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--pe&lt;#&gt;-&lt;or&gt;    orientation of reads for paired-end library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9; &lt;or&gt; = fr, rf, ff)
--s&lt;#&gt;          &lt;filename&gt;      file with unpaired reads for single reads library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-12      &lt;filename&gt;      file with interlaced reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-1       &lt;filename&gt;      file with forward reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-2       &lt;filename&gt;      file with reverse reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-s       &lt;filename&gt;      file with unpaired reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--mp&lt;#&gt;-&lt;or&gt;    orientation of reads for mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9; &lt;or&gt; = fr, rf, ff)
--hqmp&lt;#&gt;-12    &lt;filename&gt;      file with interlaced reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--hqmp&lt;#&gt;-1     &lt;filename&gt;      file with forward reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--hqmp&lt;#&gt;-2     &lt;filename&gt;      file with reverse reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--hqmp&lt;#&gt;-s     &lt;filename&gt;      file with unpaired reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--hqmp&lt;#&gt;-&lt;or&gt;  orientation of reads for high-quality mate-pair library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9; &lt;or&gt; = fr, rf, ff)
--nxmate&lt;#&gt;-1   &lt;filename&gt;      file with forward reads for Lucigen NxMate library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--nxmate&lt;#&gt;-2   &lt;filename&gt;      file with reverse reads for Lucigen NxMate library number &lt;#&gt; (&lt;#&gt; = 1,2,..,9)
--sanger        &lt;filename&gt;      file with Sanger reads
--pacbio        &lt;filename&gt;      file with PacBio reads
--nanopore      &lt;filename&gt;      file with Nanopore reads
--tslr  &lt;filename&gt;      file with TSLR-contigs
--trusted-contigs       &lt;filename&gt;      file with trusted contigs
--untrusted-contigs     &lt;filename&gt;      file with untrusted contigs

Pipeline options:
--only-error-correction runs only read error correction (without assembling)
--only-assembler        runs only assembling (without read error correction)
--careful               tries to reduce number of mismatches and short indels
--continue              continue run from the last available check-point
--restart-from  &lt;cp&gt;    restart run with updated options and from the specified check-point ('ec', 'as', 'k&lt;int&gt;', 'mc')
--disable-gzip-output   forces error correction not to compress the corrected reads
--disable-rr            disables repeat resolution stage of assembling

Advanced options:
--dataset       &lt;filename&gt;      file with dataset description in YAML format
-t/--threads    &lt;int&gt;           number of threads
                                [default: 16]
-m/--memory     &lt;int&gt;           RAM limit for SPAdes in Gb (terminates if exceeded)
                                [default: 250]
--tmp-dir       &lt;dirname&gt;       directory for temporary files
                                [default: &lt;output_dir&gt;/tmp]
-k              &lt;int,int,...&gt;   comma-separated list of k-mer sizes (must be odd and
                                less than 128) [default: 'auto']
--cov-cutoff    &lt;float&gt;         coverage cutoff value (a positive float number, or 'auto', or 'off') [default: 'off']
--phred-offset  &lt;33 or 64&gt;      PHRED quality offset in the input reads (33 or 64)
                                [default: auto-detect]
</code></pre></div><p>As you can see this is also a &ldquo;pipeline&rdquo; of tools that can be switched on or off. SPAdes takes quite a long time, so for the purposes of this practical, something like this may suffice:</p><div><pre><code>spades.py -t 4 <span>\</span>
          -m 32 <span>\</span>
          -k 31,51,71 <span>\</span>
          --only-assembler <span>\</span>
          -1 miseq.1.fastq -2 miseq.2.fastq <span>\</span>
          --nanopore minion.fastq <span>\</span>
          -o hybrid_assembly
</code></pre></div><p>In turn, these parameters mean</p><ul>
<li>use 4 threads</li>
<li>max memory is 32Gb</li>
<li>use 3 kmer values to build the de bruijn graph(s) - 31, 51 and 71</li>
<li>only run the assembler, not the correction algorithm (for speed)</li>
<li>read 1 and read 2 of the MiSeq data</li>
<li>the nanopore data</li>
<li>put the output in folder &ldquo;hybrid_assembly&rdquo;</li>
</ul>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/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>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37409/nanopolis-polish-a-genome-assembly</guid>
	<pubDate>Thu, 26 Jul 2018 04:51:28 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37409/nanopolis-polish-a-genome-assembly</link>
	<title><![CDATA[Nanopolis: polish a genome assembly]]></title>
	<description><![CDATA[<p><span>Software package for signal-level analysis of Oxford Nanopore sequencing data. Nanopolish can calculate an improved consensus sequence for a draft genome assembly, detect base modifications, call SNPs and indels with respect to a reference genome and more (see Nanopolish modules, below).</span></p>
<p>Quickstart</p>
<p>http://nanopolish.readthedocs.io/en/latest/quickstart_consensus.html</p>
<p>Algorithms</p>
<p>http://simpsonlab.github.io/2017/06/30/nanopolish-v0.7.0/</p><p>Address of the bookmark: <a href="https://github.com/jts/nanopolish" rel="nofollow">https://github.com/jts/nanopolish</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38008/quast-lg-versatile-genome-assembly-evaluation</guid>
	<pubDate>Thu, 25 Oct 2018 10:46:55 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38008/quast-lg-versatile-genome-assembly-evaluation</link>
	<title><![CDATA[QUAST-LG: Versatile genome assembly evaluation]]></title>
	<description><![CDATA[<p>QUAST-LG-a tool that compares large genomic de novo assemblies against reference sequences and computes relevant quality metrics. Since genomes generally cannot be reconstructed completely due to complex repeat patterns and low coverage regions, we introduce a concept of upper bound assembly for a given genome and set of reads, and compute theoretical limits on assembly correctness and completeness. Using QUAST-LG, we show how close the assemblies are to the theoretical optimum, and how far this optimum is from the finished reference.</p>
<h4>AVAILABILITY AND IMPLEMENTATION:</h4>
<p>http://cab.spbu.ru/software/quast-lg</p><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>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/38618/canu-genome-assembly-parameters</guid>
	<pubDate>Mon, 07 Jan 2019 08:40:37 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/38618/canu-genome-assembly-parameters</link>
	<title><![CDATA[CANU genome assembly parameters !]]></title>
	<description><![CDATA[<p>Choose the appropriate parameters to run Canu and run it. The assembly will take about an hour. You can use two cores (parameter&nbsp;<code>-maxThreads=2</code>) and you would like to disable cluster option, since we compute on a single Amazon server set off the option to compute on cluster&nbsp;<code>useGrid=false</code>. This specifications should be for your project discussed with a local computing guru. The parameters that are in square brackets&nbsp;<code>[]</code>&nbsp;are optional, symbol&nbsp;<code>|</code>&nbsp;stands for "or".</p><pre><code>usage:   canu [-correct | -trim | -assemble | -trim-assemble] \
              [-s ] \
               -p  \
               -d  \
               genomeSize=[g|m|k] \
               -maxThreads=2 \
               useGrid=false \
              [other-options] \
               read_file.fastq.gz
</code></pre><p>A default&nbsp;<code>Canu</code>&nbsp;run produces usually high quality assembly, example of a command that was used for testing can be found below. However, there are still a lot of parameters that are possible to tweak. For example if we desire to assemble haplotypes separately of if we want to smash them together, we can alternate the error correction process.</p><pre><code>canu -p test_asmbl \
     -d asm_test3 \
     genomeSize=2m \
     -maxThreads=2 useGrid=false \
     -pacbio-raw \ ~/pacbio/dna/sample_reads.fastq.gz</code></pre><p>There is a brilliant&nbsp;<a href="http://canu.readthedocs.io/en/latest/faq.html#what-parameters-can-i-tweak">section in documentation</a>&nbsp;about parameter tweaking.</p><p>The output directory contains will contain many files. The most interesting ones are:</p><ul>
<li><code>*.correctedReads.fasta.gz</code>&nbsp;: file containing the input sequences after correction, trim and split based on consensus evidence.</li>
<li><code>*.trimmedReads.fastq</code>&nbsp;: file containing the sequences after correction and final trimming</li>
<li><code>*.layout</code>&nbsp;: file containing informations about read inclusion in the final assembly</li>
<li><code>*.gfa</code>&nbsp;: file containing the assembly graph by Canu</li>
<li><code>*.contigs.fasta</code>&nbsp;: file containing everything that could be assembled and is part of the primary assembly</li>
</ul><p>The basic stats of assembly can be read from reports generated by the assembler, or calculated using standard UNIX command line tools.</p><p>More at&nbsp;https://canu.readthedocs.io/en/latest/faq.html</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38792/nxrepair-error-correction-in-de-novo-assemblies-using-nextera-mate-pair-reads</guid>
	<pubDate>Thu, 24 Jan 2019 10:35:12 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38792/nxrepair-error-correction-in-de-novo-assemblies-using-nextera-mate-pair-reads</link>
	<title><![CDATA[NxRepair: error correction in de novo assemblies using Nextera Mate Pair Reads]]></title>
	<description><![CDATA[<p>NxRepair is a python module that automatically detects large structural errors in de novo assemblies using Nextera mate pair reads. The decector will break a contig at the site of an identified misassembly and will generate a new fasta file containing both the corrected contigs and the correct, unaffected contigs.</p>
<p>https://nxrepair.readthedocs.io/en/latest/tutorial.html</p>
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<div id="readme">
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<div>
<pre>nxrepair aligned_matepairs.bam assemblyfasta.fasta error_locations.csv new_fasta.fasta</pre>
</div>
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</div>
</div>
</div>
</div>
</div>
</div>
<div>&nbsp;</div><p>Address of the bookmark: <a href="https://github.com/rebeccaroisin/nxrepair" rel="nofollow">https://github.com/rebeccaroisin/nxrepair</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41207/blobtoolkit-a-toolkit-for-genome-assembly-qc</guid>
	<pubDate>Fri, 21 Feb 2020 00:17:50 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41207/blobtoolkit-a-toolkit-for-genome-assembly-qc</link>
	<title><![CDATA[BlobToolKit: A toolkit for genome assembly QC]]></title>
	<description><![CDATA[<p>Filtering raw genomic datasets is essential to avoid chimeric assemblies and to increase the validity of sequence-based biological inference. BlobToolKit extends the BlobTools<span>1</span>/Blobology<span>2</span>&nbsp;approach to simplify interactive and reproducible filtering.</p>
<p>BlobToolKit is comprised of four components:</p>
<ol>
<li><a href="https://blobtoolkit.genomehubs.org/btk-viewer/">BlobToolKit Viewer</a>&nbsp;allows browser-based interactive visualisation and filtering of preliminary or published genomic datasets even for highly fragmented assemblies.</li>
<li><a href="https://blobtoolkit.genomehubs.org/blobtools2/">BlobTools2</a>&nbsp;is a command-line program to convert assemblies and analysis results into datasets that can be further processed using&nbsp;<a href="https://blobtoolkit.genomehubs.org/blobtools2/">BlobTools2</a>&nbsp;and/or visualised in the Viewer.</li>
<li>The&nbsp;<a href="https://blobtoolkit.genomehubs.org/specification/">BlobToolKit Specification</a>&nbsp;features a formal schema and validator for the JSON-based BlobDir format used by&nbsp;<a href="https://blobtoolkit.genomehubs.org/blobtools2/">BlobTools2</a>&nbsp;and the&nbsp;<a href="https://blobtoolkit.genomehubs.org/btk-viewer/">Viewer</a>.</li>
<li>The&nbsp;<a href="https://blobtoolkit.genomehubs.org/pipeline/">BlobToolKit Pipeline</a>&nbsp;is a configurable Snakemake pipeline that automates all steps from retrieving public datasets through running analyses and generating a BlobDir dataset with&nbsp;<a href="https://blobtoolkit.genomehubs.org/blobtools2/">BlobTools2</a>, ready for visualisation in the&nbsp;<a href="https://blobtoolkit.genomehubs.org/btk-viewer/">Viewer</a>.</li>
</ol>
<p>Paper&nbsp;<a href="https://www.biorxiv.org/content/10.1101/844852v1.full.pdf">https://www.biorxiv.org/content/10.1101/844852v1.full.pdf</a></p><p>Address of the bookmark: <a href="https://blobtoolkit.genomehubs.org/" rel="nofollow">https://blobtoolkit.genomehubs.org/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41592/refka-a-fast-and-efficient-long-read-genome-assembly-approach-for-large-and-complex-genomes</guid>
	<pubDate>Fri, 01 May 2020 03:00:40 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41592/refka-a-fast-and-efficient-long-read-genome-assembly-approach-for-large-and-complex-genomes</link>
	<title><![CDATA[RefKA: A fast and efficient long-read genome assembly approach for large and complex genomes]]></title>
	<description><![CDATA[<p><span>RefKA, a reference-based approach for long read genome assembly. This approach relies on breaking up a closely related reference genome into bins, aligning k-mers unique to each bin with PacBio reads, and then assembling each bin in parallel followed by a final bin-stitching step.</span></p>
<p>&nbsp;</p><p>Address of the bookmark: <a href="https://github.com/AppliedBioinformatics/RefKA" rel="nofollow">https://github.com/AppliedBioinformatics/RefKA</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>

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