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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/37785?offset=60</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/37905/phased-human-genome-assembly</guid>
	<pubDate>Mon, 08 Oct 2018 09:10:54 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/37905/phased-human-genome-assembly</link>
	<title><![CDATA[Phased Human Genome Assembly !]]></title>
	<description><![CDATA[<p>The new publicly available assembly (PacBio&nbsp;<a href="https://www.globenewswire.com/Tracker?data=IM2cKfZgtHafORdb9VSstujBjyW-aIzFILCtXNAkcY_yqVmxdjvG01R_FZQC7zLxs-alqquXwsW6MG98G9-g-ym8Nue2pmUZMtkIg3FIat2mYbJ-z2Ra367GlinbO13x" target="_blank" title=""><span style="text-decoration: underline;">HG00733</span></a>) has the fewest gaps of any human genome assembly, with more than half of the genome contained in gapless sequence at least 27 Mb long. The primary contig assembly is 2.89 Gb long and consists of 865 contigs that were assembled with PacBio data generated with the company&rsquo;s Sequel<span>&reg;</span>&nbsp;System. Using the&nbsp;<a href="https://www.globenewswire.com/Tracker?data=jOa6mE1Y5r8VbU1CaCgx1A0HsoVzJ7waxOiDKgvmKL6cwJq_eH4nWrGj2vLkNpxHl1-5CH4htDB4113PXT8WU60hvHQ-KKpvAwQwveEGvz3N4d0q7QHSa_X97LW8_9xEiYqfsc4d24ca-IpVYZsf7Ue-XL7fSIIZw_EHK-F96t1aaQNRcD-z1PP5qvlZbVwX" target="_blank" title=""><span style="text-decoration: underline;">FALCON-Unzip assembler</span></a>, maternal and paternal haplotypes were resolved over more than 80% of the genome. Maternal and paternal haplotype blocks were then further phased using Hi-C technology and the&nbsp;<a href="https://www.globenewswire.com/Tracker?data=jOa6mE1Y5r8VbU1CaCgx1IrQmRcKvNQm83FLTqQE6OGzutM-fEggnm4Z-nsniK0D_YmDKS_UKWE0NHtHbgvbL973Y2-9NhrWhYKizXQ4lpiTvlqPf1UZdjqVs7BDjISgDnovv8foYw8es8jQzAg5Xfq1CH36NOnWQgA_X04XSvyEEEj0q801Im6cV5M5K4eL15vb_ZgUayccOvDY_fc6lxxPAAAyA4h16-zUN44Y81KdujciCrJrv5xynMIXEjRsaIKCf6eCX_Q1j_uZlN5TD0MVr6HulTYG8lGgyL0x-eQ=" target="_blank" title=""><span style="text-decoration: underline;">FALCON-Phase method</span></a>developed in collaboration with Phase Genomics. The genome was then&nbsp;<em>de novo</em>&nbsp;scaffolded using Phase Genomics&rsquo;&nbsp;<a href="https://www.globenewswire.com/Tracker?data=4wcqEWHJpCHRJARQkC0oVkYT9htT14iVebujxcW1nMpAjmigHGQ46ObCGetRfyaZm1ADIHaV1-30B9izTAhjJ-efhFlxorUxs08kdV-9AAzQyuHJ9S7wxnRRnyegsTZd" target="_blank" title=""><span style="text-decoration: underline;">Proximo Hi-C platform</span></a>, resulting in the first chromosome-scale diploid assembly of a single individual accomplished with only two technologies. More specific details about the assembly are included on the PacBio blog.</p><p>The data are available using NCBI accession IDs: BioProject: (<a href="https://www.globenewswire.com/Tracker?data=YZtCuhY2wu5H0yIso9jtUufPXbwyHh1QOZ1jBggGpK5NtXaU_JGC9X39F3uHZ96uVmu6hW5OB2Qq805hUEW2OhSNCm630yFiEF6_nsAwYB0=" target="_blank" title=""><span style="text-decoration: underline;">PRJNA483067</span></a>), assembly: [<a href="https://www.globenewswire.com/Tracker?data=CEXZ7E56JOsRgfH4Wq3r5LVbv4QH_UIekV9idYBys9l8K7pFft824jmYWNzJqK7lQ9fMbaAtbURpm8gM7zqUbpPUrydFwrkJGGtG-NBHctjyjddiFY-p06xZPm2mHXE2" target="_blank" title=""><span style="text-decoration: underline;">RBJD00000000</span></a>] and sequence data (<a href="https://www.globenewswire.com/Tracker?data=pELP2RpqTqTRaPF9yN1N7GZYlQmTxpY0aW-B8xaNw6iyD-Lylw7X3UzMDK3YS4AIYgLtD13em2XsbzOwKhXuNbI4Ks6-LSyXl1_yVdFoB0U=" target="_blank" title=""><span style="text-decoration: underline;">SRP155659</span></a>).</p><p><span>Additional Resources</span></p><ul>
<li><a href="http://globenewswire.com/Tracker?data=zXpdadphSgIAIEWeq46yRPm5-TU0H7wTkL48ue4I9GsaHd5mJyMb9PgXgAsElREkLOCOdWdJ8uW9DHB-LyQ7xhzbd97Qis6CuAlqD0ubGgY%3D" target="_blank" title=""><span style="text-decoration: underline;">Interactive map</span></a>&nbsp;showcasing global initiatives underway to generate reference-quality human genome assemblies for diverse populations</li>
<li><a href="http://globenewswire.com/Tracker?data=EQ8NIaaa8k1Nw1MPRJYIHYrqgsDy92kU8W0siJdGQhq5IJ0dcb890PFFm-C1SrAlFf0xkxUVRxZefFK5ebhoIzmS-6OjR1G9sTxOkCOwRHCAZWmHL-e7uGSuZYcw1VsDp8AeDWO0RwcepMMB6hAoR6BBCJDiJVVZtdFlWBn2uxs%3D" target="_blank" title=""><span style="text-decoration: underline;">BioReport Podcast</span></a>&nbsp;on the value of ethnic-specific reference genomes</li>
<li><em>Nature Reviews Genetics</em>&nbsp;paper from NHGRI:&nbsp;<a href="http://globenewswire.com/Tracker?data=dffu-wPD_JX1_KVeCA6VFy-kP1tlAUbn7d85saXD59dnnJfT2BE3N_Rbm6kT4BvifA_XEs49ioa75cy4HyFi90RA_LRa2QFF6Y4mr-dcoMucljZw0K4JNDZuwWkWPE51cVC2Lqq3E3C1aZ8un6Bq3i-OO_NiVH0hh23hUw4wC84%3D" target="_blank" title=""><span style="text-decoration: underline;">Prioritizing&nbsp;diversity&nbsp;in human genomics research</span></a></li>
<li>Article in&nbsp;<em>The Journal of Precision Medicine</em>: &ldquo;<a href="http://globenewswire.com/Tracker?data=yokLqO2TCBLCdj6uZl-GYbqcGMWBerBYjSPrLMumNrWF2p5XlXq9yl5p-1b5xx3Ckfn5ZjQWkdhxLttbiNae5gccUCP-9RWPUqvTu9MuU9zgJ1c8e14lAladCuEOiVZ2oVRiqssPtLu9hgQWw4ad5EUxZemevsHE4BHC6IiFmMZ6DS6ApwZu-IonFgCFBIcjWOpitQthDASosfaqkMi9LsKgLU9F0WGVJDDOzHXpddhjfCUdEEJ7xC1p8uh9TSiCZgZV6XPlUJSe8n0C_9TtOw%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Minority Report &ndash; Ethnic Diversity and the Real Promise for Precision Medicine</span></a>&rdquo;</li>
<li>Article&nbsp;in&nbsp;<em>Bio-IT World</em>: &ldquo;<a href="http://globenewswire.com/Tracker?data=rLp1pKetctTPitNEnRjOVDZ3Cvw3FUdL6_ybXncvhjR4ksOrX3y6HUK8WtLlKHT7XZzq_woUjZ-uw20YNvsP0GZAmy5lVqETt27oBLi02wFtTH_6ubELIHtBu8vfVyKnqKp-YhosFG5K7y0RUtzmNjOAlCYPAeVXabn2a2AiSePxUXA_tSy_g79hjYm63x9dPN9oFQGYedOsyHD_ls8DKw%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Genomic Data Standards Are a Necessity</span></a>&rdquo;</li>
<li>NHGRI Project Award:&nbsp;<a href="http://globenewswire.com/Tracker?data=FbqTEeRffJ88lFryYX6MiOefXvIXFdZDAyW4nrFoYNHaJyMEYIcb7I4BIcEQmxzsKOjrlf9F8irfRJeJLOqG8KFsl-kvkhakUkg3BfYdKGnpLzKYyWbUFR0aKMeEXirHBi7oDLEUSDO45qxANwxyee-pqZXfzAIwF1Wcuaf7EIzNqRqmBUJ3TyNyI05lwAo9gDKmApMnJo5VxPj5P_6rY8lisuv1PNSAh_kJPOuhVBk%3D" target="_blank" title=""><span style="text-decoration: underline;">High Quality Human and Non-Human Primate Genome Assemblies</span></a></li>
</ul><p>More details are available on the PacBio website:</p><ul>
<li>Blog post:&nbsp;<a href="http://globenewswire.com/Tracker?data=ycj-ujgsKzVyljNa11buVmIS5tk9B733VsFZEw77nBXo-IkBvcoG16dN9vuTiY3nm2G5dJZS5Iva3w_znrEtJVDuU8cVlFpozY2ibinKwrMGxkXZVSqW8_uD8fbySRjM5Q_cjuPU22ARFSSLCc9vHJx9WHnb9Rza-qPbuWgewa0rWWStq2fQY5mLpeaQf5fcDJnyQkvDAMI3fauXdzyThg%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Data Release: Highest-Quality, Most Contiguous Individual Human Genome Assembly to Date</span></a></li>
<li>Blog post:&nbsp;<a href="http://globenewswire.com/Tracker?data=GlZZ9nyp5mDSjJPPfhVD1-dZ_W2l8s0eAUox3TQs949zyGjzO7dx9xodyvyqerdqPC-G3ZhdPEs9xNhJwflrwgHPYQL3kTofprKHBBq3O4gn9E75YUBweJw9b6tTE89sMLUQzF-vRNNDjero3mibm_uG-fSHoYBTm2ZlyEmwzZ5E9tXVd5_RjG0Xnej2E0scA0SncEItAF6Q7vdOydTV_Yr9yYT2TmKY5jtyAt6ZrNGn3McqfV9mMRkR-8dYJLqrQln9JiEkWTwUae6Blj56HyjyXKl6Dfa_CyNuy4r-EWU%3D" target="_blank" title=""><span style="text-decoration: underline;">For Reference-Grade Human Genome Assemblies, SMRT Sequencing Yields Optimal Results</span></a></li>
<li>Webinar: &nbsp;<a href="http://globenewswire.com/Tracker?data=xlnfDwMNLGZZvtexJYsUgMe-DV8HNrYx2QqjwIjfj40dToVtqrBi-gvhknHZmIe8GV_3WU3_9LIlP6GzG3ZoajnDIpwECzdMV5Vyy8Ast4Y2AiHJckf7rBhZVEU4_mV4JB0k3I9XjN2jHK8Cp5uBxyIWWqPdI6qBBdCYYhYLXUTkKpaZEV98oCfC5ET2Q7OSwUM7NieKa75yzMHwaPEYwg%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Assembling High-Quality Human Reference Genomes for Global Populations</span></a></li>
<li>FALCON-Phase&nbsp;<a href="http://globenewswire.com/Tracker?data=4Z9LDdRq3w2zYFQXEFGmz6u-Vrbfh96syfzrQMKhegLRo2PUvk7s3Xz_y1o--NuTLoCQMrHsqOEBUHIL1IPeOmhyf6Eqwdp8dv8xYo9gSVI%3D" target="_blank" title=""><span style="text-decoration: underline;">press release</span></a>&nbsp;and article&nbsp;<a href="http://globenewswire.com/Tracker?data=4Z9LDdRq3w2zYFQXEFGmz9Ts_IJqHWWrKd33x_ldJEU9mSKXpcVTTi9ioY0kVqrbrXHeCKDf4TdPnAoPJaGBK3YeZtYp-nXZacgyPESZ1XboSUZEJ9rIhDyW7bTLL5HN" target="_blank" title=""><span style="text-decoration: underline;">preprint</span></a></li>
<li>PacBio research focus webpage about&nbsp;<a href="http://globenewswire.com/Tracker?data=E-zzUkw4N01KR4muPun47qg4HX8ToDvLS4sX953hLM2wRyQZ2upkLR4WidyXTFDRLWQORpqxnkbD-CNzsOJyIfH8mJPbrLwRf04J4yjuNdem-Fulc8QIT3OCi4wx5LpqgC2ymLE0rYX5UOpbFPBgvA%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Human Population Genetics</span></a></li>
</ul><p>&nbsp;Ref:&nbsp;https://stockguru.com/2018/10/08/pacific-biosciences-releases-highest-quality-most-contiguous-individual-human-genome-assembly-to-date/</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39269/ragoo-fast-reference-guided-scaffolding-of-genome-assembly-contigs</guid>
	<pubDate>Wed, 17 Apr 2019 19:45:22 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39269/ragoo-fast-reference-guided-scaffolding-of-genome-assembly-contigs</link>
	<title><![CDATA[RaGOO: Fast Reference-Guided Scaffolding of Genome Assembly Contigs]]></title>
	<description><![CDATA[<p>Alonge M, Soyk S, Ramakrishnan S, Wang X, Goodwin S, Sedlazeck FJ, Lippman ZB, Schatz MC:&nbsp;<a href="https://www.biorxiv.org/content/early/2019/01/13/519637">Fast and accurate reference-guided scaffolding of draft genomes</a>.&nbsp;<em>bioRxiv</em>&nbsp;2019.</p>
<p>RaGOO is a tool for coalescing genome assembly contigs into pseudochromosomes via minimap2 alignments to a closely related reference genome. The focus of this tool is on practicality and therefore has the following features:</p>
<ol>
<li>Good performance. On a MacBook Pro using Arabidopsis data, pseudochromosome construction takes less than a minute and the whole pipeline with SV calling takes ~2 minutes.</li>
<li>Intact ordering and orienting of contigs.</li>
<li><a href="https://github.com/malonge/RaGOO/wiki/Breaking-Chimeric-Contigs">Chimeric contig correction</a></li>
<li><a href="https://github.com/malonge/RaGOO/wiki/GFF-File-Lift-Over">GFF lift-over</a></li>
<li><a href="https://github.com/malonge/RaGOO/wiki/Calling-Structural-Variants">Structural variant calling with and integrated version of Assemblytics</a></li>
<li>Confidence scores associated with the grouping, localization, and orientation for each contig.</li>
</ol><p>Address of the bookmark: <a href="https://github.com/malonge/RaGOO" rel="nofollow">https://github.com/malonge/RaGOO</a></p>]]></description>
	<dc:creator>BioJoker</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44366/mitofinder</guid>
	<pubDate>Tue, 29 Aug 2023 02:13:01 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44366/mitofinder</link>
	<title><![CDATA[MitoFinder]]></title>
	<description><![CDATA[<p dir="auto">Allio, R., Schomaker-Bastos, A., Romiguier, J., Prosdocimi, F., Nabholz, B., &amp; Delsuc, F. (2020) Mol Ecol Resour. 20, 892-905. (<a href="https://doi.org/10.1111/1755-0998.13160">publication link</a>)</p>
<p dir="auto" style="text-align: center;"><a href="https://github.com/RemiAllio/MitoFinder/blob/master/image/logo.png" target="_blank"><img src="https://github.com/RemiAllio/MitoFinder/raw/master/image/logo.png" alt="Drawing" width="250" style="border: 0px;"></a></p>
<p dir="auto"><span>Mitofinder</span>&nbsp;is a pipeline to&nbsp;<span>assemble</span>&nbsp;mitochondrial genomes and&nbsp;<span>annotate</span>&nbsp;mitochondrial genes from trimmed read sequencing data.</p>
<p dir="auto"><span>MitoFinder</span>&nbsp;is also designed to&nbsp;<span>find</span>&nbsp;and&nbsp;<span>annotate</span>&nbsp;mitochondrial sequences in existing genomic assemblies (generated from Hifi/PacBio/Nanopore/Illumina sequencing data...)</p>
<p dir="auto"><span>MitoFinder</span>&nbsp;is distributed under the&nbsp;<a href="https://github.com/RemiAllio/MitoFinder/blob/master/License/LICENSE">license</a>.</p><p>Address of the bookmark: <a href="https://github.com/RemiAllio/MitoFinder" rel="nofollow">https://github.com/RemiAllio/MitoFinder</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43652/peregrine-shimmer-genome-assembly-toolkit</guid>
	<pubDate>Thu, 16 Dec 2021 02:50:19 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43652/peregrine-shimmer-genome-assembly-toolkit</link>
	<title><![CDATA[Peregrine &amp; SHIMMER Genome Assembly Toolkit]]></title>
	<description><![CDATA[<p><span>Peregrine is a fast genome assembler for accurate long reads (length &gt; 10kb, accuracy &gt; 99%). It can assemble a human genome from 30x reads within 20 cpu hours from reads to polished consensus. It uses Sparse HIereachical MimiMizER (SHIMMER) for fast read-to-read overlaping without quadratic comparisions used in other OLC assemblers.</span></p><p>Address of the bookmark: <a href="https://github.com/cschin/Peregrine" rel="nofollow">https://github.com/cschin/Peregrine</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34328/dfast-a-flexible-prokaryotic-genome-annotation-pipeline-for-faster-genome-publication</guid>
	<pubDate>Tue, 14 Nov 2017 10:26:16 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34328/dfast-a-flexible-prokaryotic-genome-annotation-pipeline-for-faster-genome-publication</link>
	<title><![CDATA[DFAST: a flexible prokaryotic genome annotation pipeline for faster genome publication]]></title>
	<description><![CDATA[<p>We developed a prokaryotic genome annotation pipeline, DFAST, that also supports genome submission to public sequence databases. DFAST was originally started as an on-line annotation server, and to date, over 7,000 jobs have been processed since its first launch in 2016. Here, we present a newly implemented background annotation engine for DFAST, which is also available as a standalone command-line program. The new engine can annotate a typical-sized bacterial genome within 10 minutes, with rich information such as pseudogenes, translation exceptions, and orthologous gene assignment between given reference genomes. In addition, the modular framework of DFAST allows users to customize the annotation workflow easily and will also facilitate extensions for new functions and incorporation of new tools in the future.</p>
<div>Availability and Implementation</div>
<p>The software is implemented in Python 3 and runs in both Python 2.7 and 3.4&ndash; on Macintosh and Linux systems. It is freely available at&nbsp;<a href="https://github.com/nigyta/dfast_core/" target="">https://github.com/nigyta/dfast_core/</a>&nbsp;under the GPLv3 license with external binaries bundled in the software distribution. An on-line version is also available at&nbsp;<a href="https://dfast.nig.ac.jp/" target="">https://dfast.nig.ac.jp/</a>.</p><p>Address of the bookmark: <a href="https://dfast.nig.ac.jp/" rel="nofollow">https://dfast.nig.ac.jp/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36954/mscaffolder-a-comparative-genome-scaffolding-tool</guid>
	<pubDate>Fri, 15 Jun 2018 04:48:01 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36954/mscaffolder-a-comparative-genome-scaffolding-tool</link>
	<title><![CDATA[mScaffolder: A comparative genome scaffolding tool]]></title>
	<description><![CDATA[<p>A comparative genome scaffolding tool based on MUMmer</p>
<p>mScaffolder scaffolds a genome using an existing high quality genome as the reference. It aligns the two genomes using nucmer utility from MUMmer and then orders and orients the contigs of the candidate genome guided by their alignments to the reference genome. Please send your questions and comments to&nbsp;<a href="mailto:mchakrab@uci.edu">mchakrab@uci.edu</a>.</p>
<p><span>Citation</span><span>&nbsp;</span><a href="https://www.nature.com/articles/s41588-017-0010-y">https://www.nature.com/articles/s41588-017-0010-y</a></p><p>Address of the bookmark: <a href="https://github.com/mahulchak/mscaffolder" rel="nofollow">https://github.com/mahulchak/mscaffolder</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37306/genome-u-plot-a-whole-genome-visualization</guid>
	<pubDate>Fri, 13 Jul 2018 19:50:41 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37306/genome-u-plot-a-whole-genome-visualization</link>
	<title><![CDATA[Genome U-Plot: a whole genome visualization]]></title>
	<description><![CDATA[<p><span>Genome U-Plot for producing clear and intuitive graphs that allows researchers to generate novel insights and hypotheses by visualizing SVs such as deletions, amplifications, and chromoanagenesis events. The main features of the Genome U-Plot are its layered layout, its high spatial resolution and its improved aesthetic qualities.&nbsp;</span></p>
<p><span>https://github.com/gaitat/GenomeUPlot</span></p><p>Address of the bookmark: <a href="https://github.com/gaitat/GenomeUPlot" rel="nofollow">https://github.com/gaitat/GenomeUPlot</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37796/grsr-a-tool-for-deriving-genome-rearrangement-scenarios-from-multiple-unichromosomal-genome-sequences</guid>
	<pubDate>Fri, 28 Sep 2018 09:35:10 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37796/grsr-a-tool-for-deriving-genome-rearrangement-scenarios-from-multiple-unichromosomal-genome-sequences</link>
	<title><![CDATA[GRSR: a tool for deriving genome rearrangement scenarios from multiple unichromosomal genome sequences]]></title>
	<description><![CDATA[<p>GRSR is a Tool for Deriving Genome Rearrangement Scenarios for Multiple Uni-chromosomal Genomes. This tool will do the following steps:</p>
<ul>
<li>Step 1. Run mugsy to get multiple sequence alignment results.</li>
<li>Step 2 &amp; 3. Extraction of the Coordinates of Core Blocks, Construction of Synteny Blocks and Generating Signed Permutations.</li>
<li>Step 4. Generate pairwise genome rearrangement scenarios and find repeats at the breakpoints of each rearrangement events.</li>
<li></li>
<li></li>
</ul>
<p>https://github.com/DanwangJessica/GRSR</p><p>Address of the bookmark: <a href="https://github.com/DanwangJessica/GRSR" rel="nofollow">https://github.com/DanwangJessica/GRSR</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40465/airlift-a-methodology-and-tool-for-comprehensively-moving-mappings-and-annotations-from-one-genome-to-another-similar-genome</guid>
	<pubDate>Mon, 23 Dec 2019 10:20:13 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40465/airlift-a-methodology-and-tool-for-comprehensively-moving-mappings-and-annotations-from-one-genome-to-another-similar-genome</link>
	<title><![CDATA[AirLift, a methodology and tool for comprehensively moving mappings and annotations from one genome to another similar genome]]></title>
	<description><![CDATA[<p>We propose AirLift, a methodology and tool for comprehensively moving mappings and annotations from one genome to another similar genome while maintaining the accuracy of a full mapper.</p><p>Address of the bookmark: <a href="https://github.com/CMU-SAFARI/AirLift" rel="nofollow">https://github.com/CMU-SAFARI/AirLift</a></p>]]></description>
	<dc:creator>Jit</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>

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