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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/34475?offset=130</link>
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	<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>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/view/982</guid>
	<pubDate>Wed, 17 Jul 2013 15:25:09 -0500</pubDate>
	<link>https://bioinformaticsonline.com/view/982</link>
	<title><![CDATA[Is reference genome necessary for gene expression study in transcriptome sequencing or for variant discovery in genome sequencing?]]></title>
	<description><![CDATA[<p><span>Like in case of plant genomes where nature of genome is too complex and huge in size to accomplish complete<em> de novo</em> assembly by current sequencing technology. What would be alternate solution? Can we live in reference free world?</span></p>]]></description>
	<dc:creator>Rahul Agarwal</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/4183/320000-viruses-in-mammals-yet-to-sequenced-in-future</guid>
	<pubDate>Tue, 03 Sep 2013 08:35:30 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/4183/320000-viruses-in-mammals-yet-to-sequenced-in-future</link>
	<title><![CDATA[320000 viruses in mammals yet to sequenced in future!!!]]></title>
	<description><![CDATA[<p>With current biological technique improvements, finally it is now possible to look at millions of unknown viruses at genomic level and understand the mechanism. According to available data, close to 70 per cent of emerging viral diseases such as HIV/AIDS, West Nile, Ebola, SARS, and influenza, are zoonoses - infections of animals that cross into humans.</p><p>To address the challenges of describing and estimating virodiversity, a team of investigators from Center for Infection and Immunity (CII) and EcoHealth Alliance began in jungles of Bangladesh - home to the flying fox.</p><p>Reference:</p><p><a href="http://economictimes.indiatimes.com/news/news-by-industry/et-cetera/mammals-harbour-at-least-320000-new-viruses/articleshow/22253268.cms">http://economictimes.indiatimes.com/news/news-by-industry/et-cetera/mammals-harbour-at-least-320000-new-viruses/articleshow/22253268.cms</a></p><p><a href="http://www.bbc.co.uk/news/science-environment-23932400">http://www.bbc.co.uk/news/science-environment-23932400</a></p>]]></description>
	<dc:creator>Rahul Agarwal</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/36405/earth-biogenome-project</guid>
	<pubDate>Wed, 25 Apr 2018 07:48:56 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/36405/earth-biogenome-project</link>
	<title><![CDATA[Earth BioGenome Project]]></title>
	<description><![CDATA[<p><span>The central goal of the Earth BioGenome Project is to understand the evolution and organization of life on our planet by sequencing and functionally annotating the genomes of 1.5 million known species of eukaryotes, a massive group that includes plants, animals, fungi and other organisms whose cells have a nucleus that houses their chromosomal DNA. To date, the genomes of less than 0.2 percent of eukaryotic species have been sequenced.&nbsp;</span></p><p><span>More at&nbsp;https://www.ucdavis.edu/news/earth-biogenome-project-aims-sequence-dna-all-complex-life</span></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44503/entire-human-genome-sequencing</guid>
	<pubDate>Tue, 02 Apr 2024 01:19:29 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44503/entire-human-genome-sequencing</link>
	<title><![CDATA[Entire Human Genome Sequencing !]]></title>
	<description><![CDATA[<p>Cost-effective whole human genome sequencing has revolutionized the landscape of genetic research and personalized medicine by making comprehensive genetic analysis accessible to a wider population. Through advancements in sequencing technologies, such as next-generation sequencing (NGS), costs have significantly decreased, enabling researchers and healthcare providers to analyze an individual's complete genetic makeup with greater efficiency and affordability. This has profound implications for disease diagnosis, prognosis, and treatment, as it allows for the identification of genetic predispositions and the customization of healthcare interventions based on an individual's unique genetic profile. Moreover, as the cost continues to decline, the potential for population-scale genomic studies and large-scale screening programs becomes increasingly feasible, promising to further enhance our understanding of human genetics and improve healthcare outcomes on a global scale.</p><p>Here are few companies:</p><p>https://mynucleus.com/</p><p>https://myome.com/</p><p>https://nebula.org/whole-genome-sequencing-dna-test/</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34400/ioniser-tools-for-the-quality-assessment-of-data-produced-by-oxford-nanopore%E2%80%99s-minion-sequencer</guid>
	<pubDate>Thu, 23 Nov 2017 10:24:19 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34400/ioniser-tools-for-the-quality-assessment-of-data-produced-by-oxford-nanopore%E2%80%99s-minion-sequencer</link>
	<title><![CDATA[IONiseR:  tools for the quality assessment of data produced by Oxford Nanopore’s MinION sequencer]]></title>
	<description><![CDATA[<p>This package is intended to provide tools for the quality assessment of data produced by Oxford Nanopore&rsquo;s MinION sequencer. It includes a functions to generate a number plots for examining the statistics that we think will be useful for this task.</p>
<p>However, nanopore sequencing is an emerging and rapidly developing technology. It is not clear what will be most informative. We hope that&nbsp;<code>IONiseR</code>&nbsp;will provide a framework for visualisation of metrics that we haven&rsquo;t thought of, and welcome feedback at&nbsp;<a href="mailto:mike.smith@embl.de" target="_blank">mike.smith@embl.de</a>.</p>
<p>If you&rsquo;re not interested in the quality assement of the raw or event level data, and want to jump straight to the getting FASTQ format files from fast5 files you can go straight to the final section of this document.</p><p>Address of the bookmark: <a href="https://www.bioconductor.org/packages/devel/bioc/vignettes/IONiseR/inst/doc/IONiseR.html" rel="nofollow">https://www.bioconductor.org/packages/devel/bioc/vignettes/IONiseR/inst/doc/IONiseR.html</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36812/porechop-tool-for-finding-and-removing-adapters-from-oxford-nanopore-reads</guid>
	<pubDate>Tue, 29 May 2018 07:33:44 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36812/porechop-tool-for-finding-and-removing-adapters-from-oxford-nanopore-reads</link>
	<title><![CDATA[Porechop:  tool for finding and removing adapters from Oxford Nanopore reads]]></title>
	<description><![CDATA[<p>Porechop is a tool for finding and removing adapters from <a href="https://nanoporetech.com/">Oxford Nanopore</a> reads. Adapters on the ends of reads are trimmed off, and when a read has an adapter in its middle, it is treated as chimeric and chopped into separate reads. Porechop performs thorough alignments to effectively find adapters, even at low sequence identity.</p>
<p>Porechop also supports demultiplexing of Nanopore reads that were barcoded with the <a href="https://store.nanoporetech.com/native-barcoding-kit-1d.html">Native Barcoding Kit</a>, <a href="https://store.nanoporetech.com/pcr-barcoding-kit-96.html">PCR Barcoding Kit</a> or <a href="https://store.nanoporetech.com/rapid-barcoding-sequencing-kit.html">Rapid Barcoding Kit</a>.</p><p>Address of the bookmark: <a href="https://github.com/rrwick/Porechop" rel="nofollow">https://github.com/rrwick/Porechop</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37527/nanopack-visualizing-and-processing-long-read-sequencing-data</guid>
	<pubDate>Fri, 10 Aug 2018 18:41:34 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37527/nanopack-visualizing-and-processing-long-read-sequencing-data</link>
	<title><![CDATA[NanoPack: visualizing and processing long-read sequencing data]]></title>
	<description><![CDATA[<p>The NanoPack tools are written in Python3 and released under the GNU GPL3.0 License. The source code can be found at&nbsp;<a href="https://github.com/wdecoster/nanopack" target="">https://github.com/wdecoster/nanopack</a>, together with links to separate scripts and their documentation. The scripts are compatible with Linux, Mac OS and the MS Windows 10 subsystem for Linux and are available as a graphical user interface, a web service at&nbsp;<a href="http://nanoplot.bioinf.be/" target="">http://nanoplot.bioinf.be</a>&nbsp;and command line tools.</p>
<p>&nbsp;https://academic.oup.com/bioinformatics/article/34/15/2666/4934939</p><p>Address of the bookmark: <a href="https://github.com/wdecoster/nanoQC" rel="nofollow">https://github.com/wdecoster/nanoQC</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34246/unicycler-hybrid-assembly-pipeline-for-bacterial-genomes</guid>
	<pubDate>Fri, 10 Nov 2017 03:58:27 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34246/unicycler-hybrid-assembly-pipeline-for-bacterial-genomes</link>
	<title><![CDATA[Unicycler: Hybrid assembly pipeline for bacterial genomes]]></title>
	<description><![CDATA[<p><span>Unicycler is an assembly pipeline for bacterial genomes. It can assemble&nbsp;</span><a href="http://www.illumina.com/">Illumina</a><span>-only read sets where it functions as a&nbsp;</span><a href="http://cab.spbu.ru/software/spades/">SPAdes</a><span>-optimiser. It can also assembly long-read-only sets (</span><a href="http://www.pacb.com/">PacBio</a><span>&nbsp;or&nbsp;</span><a href="https://nanoporetech.com/">Nanopore</a><span>) where it runs a&nbsp;</span><a href="https://github.com/lh3/miniasm">miniasm</a><span>+</span><a href="https://github.com/isovic/racon">Racon</a><span>&nbsp;pipeline. For the best possible assemblies, give it both Illumina reads&nbsp;</span><em>and</em><span>&nbsp;long reads, and it will conduct a hybrid assembly.</span></p><p>Address of the bookmark: <a href="https://github.com/rrwick/Unicycler" rel="nofollow">https://github.com/rrwick/Unicycler</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/34707/string-graph-based-genome-assembly-software-and-tools</guid>
	<pubDate>Tue, 19 Dec 2017 17:17:38 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/34707/string-graph-based-genome-assembly-software-and-tools</link>
	<title><![CDATA[String graph based genome assembly software and tools !]]></title>
	<description><![CDATA[<p>In&nbsp;<a href="https://en.wikipedia.org/wiki/Graph_theory" title="Graph theory">graph theory</a>, a&nbsp;<strong>string graph</strong>&nbsp;is an&nbsp;<a href="https://en.wikipedia.org/wiki/Intersection_graph" title="Intersection graph">intersection graph</a>&nbsp;of&nbsp;<a href="https://en.wikipedia.org/wiki/Curve" title="Curve">curves</a>&nbsp;in the plane; each curve is called a "string".&nbsp; String graphs were first proposed by E. W. Myers in a&nbsp;<a href="http://bioinformatics.oxfordjournals.org/content/21/suppl_2/ii79.full.pdf+html">2005 publication</a>.&nbsp;In&nbsp;recent&nbsp;<a href="http://genome.cshlp.org/content/early/2012/01/22/gr.126953.111">Genome Research paper</a>&nbsp;describing an innovative approach for assembling large genomes from NGS data caught our attention for several reasons. i) it give different "string graph" prospective of long lasting genome assembly problem ii) the&nbsp;paper is coauthored by Jared Simpson, the developer of&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694472/">ABySS assembler</a>&nbsp;and Richard Durbin. iii)&nbsp;Simpson-Durbin algorithm is that it does not rely on de Bruijn graphs, and instead employs a different graph construction approach called &lsquo;string graph&rsquo;.</p><p>Following are the genome assembly tools based on string graph:</p><p>1.SGA (String Graph Assembler)&nbsp;https://github.com/jts/sga</p><p>Assembles large genomes from high coverage short read data. SGA is designed as a modular set of programs, which are used to form an assembly pipeline. SGA implements a set of assembly algorithms based on the FM-index. As the FM-index is a compressed data structure, the algorithms are very memory efficient. The SGA assembly has three distinct phases. The first phase corrects base calling errors in the reads. The second phase assembles contigs from the corrected reads. The third phase uses paired end and/or mate pair data to build scaffolds from the contigs. The output of this software is a PDF report that allows the properties of the genome and data quality to be visually explored. By providing more information to the user at the start of an assembly project, this software will help increase awareness of the factors that make a given assembly easy or difficult, assist in the selection of software and parameters and help to troubleshoot an assembly if it runs into problems.</p><p>2.&nbsp;SAGE: String-overlap Assembly of GEnomes&nbsp;https://github.com/lucian-ilie/SAGE2</p><p>SAGE, for de novo genome assembly. As opposed to most assemblers, which are de Bruijn graph based, SAGE uses the string-overlap graph. SAGE builds upon great existing work on string-overlap graph and maximum likelihood assembly, bringing an important number of new ideas, such as the efficient computation of the transitive reduction of the string overlap graph, the use of (generalized) edge multiplicity statistics for more accurate estimation of read copy counts, and the improved use of mate pairs and min-cost flow for supporting edge merging. The assemblies produced by SAGE for several short and medium-size genomes compared favourably with those of existing leading assemblers.</p><p>3. FSG: Fast String Graph</p><p>The new integrated assembler has been assessed on a standard benchmark, showing that fast string graph (FSG) is significantly faster than SGA while maintaining a moderate use of main memory, and showing practical advantages in running FSG on multiple threads. Moreover, we have studied the effect of coverage rates on the running times.</p><p>4.&nbsp;&nbsp;BASE&nbsp;https://github.com/dhlbh/BASE</p><p>It enhances the classic seed-extension approach by indexing the reads efficiently to generate adaptive seeds that have high probability to appear uniquely in the genome. Such seeds form the basis for BASE to build extension trees and then to use reverse validation to remove the branches based on read coverage and paired-end information, resulting in high-quality consensus sequences of reads sharing the seeds. Such consensus sequences are then extended to contigs.&nbsp;BASE is a practically efficient tool for constructing contig, with significant improvement in quality for long NGS reads. It is relatively easy to extend BASE to include scaffolding.</p><p>5.&nbsp;Fermi&nbsp;https://github.com/lh3/fermi/</p><p>Fermi is a de novo assembler with a particular focus on assembling Illumina&nbsp;short sequence reads from a mammal-sized genome. In addition to the role of a&nbsp;typical assembler, fermi also aims to preserve heterozygotes which are often&nbsp;collapsed by other assemblers. Its ultimate goal is to find a minimal set of&nbsp;unitigs to represent all the information in raw reads.</p><p>If you want to learn about String Graph assembler, please read the following papers -</p><p>i)&nbsp;<a href="http://bioinformatics.oxfordjournals.org/content/21/suppl_2/ii79.full.pdf+html">The Fragment Assembly String Graph - E. W. Myers</a></p><p>This paper describes the String Graph concept.</p><p>ii)&nbsp;<a href="http://bioinformatics.oxfordjournals.org/content/26/12/i367.full#ref-20">Efficient construction of an assembly string graph using the FM-index - Jared T. Simpson and Richard Durbin</a></p><p>This earlier paper from Simpson and Durbin</p><p>iii)&nbsp;<a href="http://genome.cshlp.org/content/early/2012/01/22/gr.126953.111">Efficient de novo assembly of large genomes using compressed data structures - Jared T. Simpson and Richard Durbin</a></p><p>&nbsp;</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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