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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/11181?offset=1200</link>
	<atom:link href="https://bioinformaticsonline.com/related/11181?offset=1200" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/44637/tools-to-access-the-quality-of-your-assembled-genome</guid>
	<pubDate>Thu, 08 Aug 2024 23:31:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/44637/tools-to-access-the-quality-of-your-assembled-genome</link>
	<title><![CDATA[Tools to access the quality of your assembled genome !]]></title>
	<description><![CDATA[<ul dir="auto">
<li><a href="https://github.com/linsalrob/fasta_validator">FASTA VALIDATOR</a>&nbsp;+&nbsp;<a href="https://github.com/shenwei356/seqkit">SEQKIT RMDUP</a>: FASTA validation</li>
<li><a href="https://genometools.org/tools/gt_gff3validator.html">GENOMETOOLS GT GFF3VALIDATOR</a>: GFF3 validation</li>
<li><a href="https://github.com/PlantandFoodResearch/assemblathon2-analysis/blob/a93cba25d847434f7eadc04e63b58c567c46a56d/assemblathon_stats.pl">ASSEMBLATHON STATS</a>: Assembly statistics</li>
<li><a href="https://genometools.org/tools/gt_stat.html">GENOMETOOLS GT STAT</a>: Annotation statistics</li>
<li><a href="https://github.com/ncbi/fcs">NCBI FCS ADAPTOR</a>: Adaptor contamination pass/fail</li>
<li><a href="https://github.com/ncbi/fcs">NCBI FCS GX</a>: Foreign organism contamination pass/fail</li>
<li><a href="https://gitlab.com/ezlab/busco">BUSCO</a>: Gene-space completeness estimation</li>
<li><a href="https://github.com/tolkit/telomeric-identifier">TIDK</a>: Telomere repeat identification</li>
<li><a href="https://github.com/oushujun/LTR_retriever/blob/master/LAI">LAI</a>: Continuity of repetitive sequences</li>
<li><a href="https://github.com/DerrickWood/kraken2">KRAKEN2</a>: Taxonomy classification</li>
<li><a href="https://github.com/igvteam/juicebox.js">HIC CONTACT MAP</a>: Alignment and visualisation of HiC data</li>
<li><a href="https://github.com/mummer4/mummer">MUMMER</a>&nbsp;&rarr;&nbsp;<a href="http://circos.ca/documentation/">CIRCOS</a>&nbsp;+&nbsp;<a href="https://plotly.com/">DOTPLOT</a>&nbsp;&amp;&nbsp;<a href="https://github.com/lh3/minimap2">MINIMAP2</a>&nbsp;&rarr;&nbsp;<a href="https://github.com/schneebergerlab/plotsr">PLOTSR</a>: Synteny analysis</li>
<li><a href="https://github.com/marbl/merqury">MERQURY</a>: K-mer completeness, consensus quality and phasing assessment</li>
</ul>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44766/genome-simulation-with-slim-and-msprime</guid>
	<pubDate>Fri, 31 Jan 2025 12:47:43 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44766/genome-simulation-with-slim-and-msprime</link>
	<title><![CDATA[Genome Simulation with SLiM and msprime]]></title>
	<description><![CDATA[<p>Genome simulation is an essential tool in population genetics, enabling researchers to model evolutionary processes and study genetic variation. Two widely used simulation tools in this field are <strong style="font-size: 12.8px;">SLiM</strong><span style="font-size: 12.8px; font-weight: normal;"> and </span><strong style="font-size: 12.8px;">msprime</strong><span style="font-size: 12.8px; font-weight: normal;">. While both serve different purposes, they can be used together with the </span><strong style="font-size: 12.8px;">slendr</strong><span style="font-size: 12.8px; font-weight: normal;"> framework to compare simulation outputs effectively.</span></p><h2>Overview of SLiM and msprime</h2><h3>SLiM: Forward Genetic Simulator</h3><p>SLiM is a <strong>free, open-source</strong> tool designed for forward genetic simulations. It allows researchers to model complex evolutionary scenarios, including selection, recombination, and demographic events, making it particularly useful for studying adaptation and selection in populations.</p><p><strong>Key Features of SLiM:</strong></p><ul>
<li>
<p>Simulates population evolution forward in time</p>
</li>
<li>
<p>Supports custom evolutionary models using an embedded scripting language</p>
</li>
<li>
<p>Allows modeling of spatial and ecological dynamics</p>
</li>
<li>
<p>Provides high flexibility and extensibility for user-defined scenarios</p>
</li>
<li>
<p>Available on GitHub as an open-source project</p>
</li>
</ul><h3>msprime: Ancestry and Mutation Simulator</h3><p>msprime is an efficient, <strong>open-source</strong> tool that simulates ancestry and mutations using a coalescent framework. It is known for its high-speed performance and low memory requirements, making it a popular choice for large-scale genomic simulations.</p><p><strong>Key Features of msprime:</strong></p><ul>
<li>
<p>Implements coalescent simulations for ancestry modeling</p>
</li>
<li>
<p>Efficiently simulates large population histories</p>
</li>
<li>
<p>Supports the addition of mutations to genealogies</p>
</li>
<li>
<p>Developed using an open-source community model</p>
</li>
<li>
<p>Often faster and more memory-efficient than alternative simulators</p>
</li>
</ul><h2>Using SLiM and msprime with slendr</h2><p>Both SLiM and msprime can be integrated with <strong>slendr</strong>, a framework that facilitates structured population genetic simulations. This integration allows for seamless comparison of simulation outputs.</p><h3>How They Work Together:</h3><ul>
<li>
<p>SLiM and msprime simulations can be analyzed within slendr.</p>
</li>
<li>
<p>The <strong>ts_read()</strong> function in slendr enables loading and comparing tree sequence outputs from both simulators.</p>
</li>
<li>
<p>This integration allows researchers to validate simulation results and gain deeper insights into evolutionary processes.</p>
</li>
</ul><h2>Performance Considerations</h2><p>While SLiM offers powerful forward simulations with extensive customization, msprime is often preferred for its <strong>speed and memory efficiency</strong> when simulating ancestry and mutations. The choice between the two depends on the research goals:</p><ul>
<li>
<p><strong>For detailed evolutionary modeling with selection and recombination:</strong> Use SLiM.</p>
</li>
<li>
<p><strong>For large-scale coalescent simulations with mutations:</strong> Use msprime.</p>
</li>
<li>
<p><strong>For comparing different simulation models and their outputs:</strong> Use slendr to integrate SLiM and msprime results.</p>
</li>
</ul><h2>Conclusion</h2><p>SLiM and msprime are valuable tools for genome simulation, each serving distinct but complementary purposes in population genetics research. By leveraging the strengths of both simulators with slendr, researchers can conduct robust and efficient evolutionary simulations, enhancing our understanding of genetic diversity and adaptation.</p><p>For more information, check out the official GitHub repositories for <strong>SLiM</strong> and <strong>msprime</strong>, and explore the <strong>slendr</strong> framework for streamlined simulation workflow</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45240/pg2-making-pangenome-graphs-easier-to-understand</guid>
	<pubDate>Tue, 18 Aug 2026 04:38:23 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45240/pg2-making-pangenome-graphs-easier-to-understand</link>
	<title><![CDATA[PG2: Making Pangenome Graphs Easier to Understand]]></title>
	<description><![CDATA[<p>Genomics is moving beyond the traditional approach of studying DNA using a single reference genome. Today, researchers are increasingly using pangenomes, which represent genetic information from multiple genomes and capture a much broader range of genetic diversity.</p><p>However, pangenome graphs can be highly complex, making them difficult to visualize and interpret. A recent study published in BMC Bioinformatics introduces PG2 (PanGenoGrapher), an open-source, web-based tool designed to address this challenge.&nbsp;The source code and user guide are openly available on GitHub at https://github.com/iVis-at-Bilkent/pangenographer. A publicly accessible sample deployment is hosted at http://pg2.cs.bilkent.edu.tr. In addition, a demonstration video illustrating the primary use cases of PG2 is available at https://www.youtube.com/watch?v=yCd7-aGY6CQ.</p><p>PG2 combines advanced graph-layout algorithms with an interactive visualization platform. It allows researchers to explore genomic paths, identify variations, and examine relationships between different parts of a pangenome graph more easily.</p><p>This is important because visualization can play a major role in bioinformatics. When complex genomic information is presented clearly, researchers can more easily identify patterns, understand genetic variation, and generate new biological insights.</p><p>The development of PG2 represents a step toward making pangenome analysis more accessible and intuitive. As genomic datasets continue to grow and graph-based representations become more common, tools like PG2 can help researchers navigate this increasing complexity.</p><p>Ultimately, PG2 demonstrates how combining genomics, graph algorithms, and interactive visualization can make sophisticated biological data easier to understand and analyze.</p><p>Reference: Solun, G. K., Dogrusoz, U., Bing&ouml;l, Z., &amp; Alkan, C. (2026). PG2: algorithms and a web-based tool for effective layout and visual analysis of pangenome graphs. BMC Bioinformatics. DOI: 10.1186/s12859-026-06555-4.</p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/22416/rosenberg-lab</guid>
  <pubDate>Wed, 27 May 2015 17:52:24 -0500</pubDate>
  <link></link>
  <title><![CDATA[Rosenberg lab]]></title>
  <description><![CDATA[
<p>Research. Research in the lab focuses on mathematical, statistical, and computational problems in evolutionary biology and human genetics. Long-term interests of the lab include topics such as:</p>

<p>    Human genetic variation<br />    Inference of human evolutionary history from genetic markers<br />    Statistical analysis of population-genetic data<br />    Mathematical models of gene genealogies<br />    Theoretical population genetics<br />    Combinatorics of evolutionary trees<br />    The relationship between gene trees and species trees<br />    The role of human evolutionary genetics in the search for genes that contribute to disease-susceptibility <br />More at https://web.stanford.edu/group/rosenberglab/index.html</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45289/the-atlas-of-nine-billion-possibilities</guid>
	<pubDate>Wed, 09 Sep 2026 02:07:58 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45289/the-atlas-of-nine-billion-possibilities</link>
	<title><![CDATA[The Atlas of Nine Billion Possibilities]]></title>
	<description><![CDATA[<p>Imagine a book that holds all the instructions for building a human, made up of billions of letters. What if you changed just one letter? Maybe nothing would happen. Or that tiny change could affect how a gene works, quietly shaping a cell&rsquo;s biology or even helping cause disease.</p><p>Scientists face a big challenge with the human genome. They can read its letters, but understanding their roles is much harder. Only about 2 percent of the genome codes for proteins. The rest acts like a huge control panel, deciding when and where genes turn on. With about 9 billion possible single-letter changes, testing them all in a lab just isn&rsquo;t possible.</p><p>So, Google DeepMind asked a new question: what if we could predict what those changes might do?</p><p>This question led to the AlphaGenome Atlas (https://deepmind.google.com/science/alphagenome/atlas?), a detailed map of nearly every possible single-letter change in the human genome. Instead of checking each change one by one, researchers can use the Atlas to spot the ones most likely to matter. The AlphaGenome Variant Impact (AVI) score works like a trail marker, pointing scientists toward the changes worth a closer look.</p><p>This is where the Atlas gets especially useful. Much of the genome lies outside the protein-coding regions, where DNA acts as a switch or controller for genes. AlphaGenome lets researchers explore these areas and see how small changes could affect gene activity.</p><p>An atlas isn't the destination; it's a guide.</p><p>The AlphaGenome Atlas doesn&rsquo;t replace experiments or solve every mystery. Instead, it helps scientists decide where to begin. From billions of possibilities, it turns the vast genetic landscape into something researchers can start to explore.</p><p>There are nine billion possibilities, a vast map, and maybe among them therWith nine billion possibilities and a huge map to explore, there may be clues hidden here to some of medicine&rsquo;s toughest mysteries.</p><p>More at&nbsp;https://storage.googleapis.com/deepmind-media/DeepMind.com/Blog/alphagenome-atlas-a-predictive-map-of-every-possible-dna-letter-change-in-the-human-genome/alphagenome-atlas.pdf</p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/3918/the-human-genome-project-video-3d-animation-introduction-low</guid>
	<pubDate>Sat, 24 Aug 2013 19:01:19 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/3918/the-human-genome-project-video-3d-animation-introduction-low</link>
	<title><![CDATA[The Human Genome Project Video   3D Animation Introduction Low)]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/YxoQFSBwyms" frameborder="0" allowfullscreen></iframe>]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/21150/webinar-on-an-integrated-rna-and-dna-approach-to-unravel-genetic-regulation-in-cancer</guid>
	<pubDate>Wed, 11 Feb 2015 04:59:57 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/21150/webinar-on-an-integrated-rna-and-dna-approach-to-unravel-genetic-regulation-in-cancer</link>
	<title><![CDATA[Webinar on 'An integrated RNA and DNA approach to unravel genetic regulation in cancer']]></title>
	<description><![CDATA[<div><p><strong>Webinar on 'An integrated RNA and DNA approach to unravel genetic regulation in cancer'</strong></p><p><strong>Abstract</strong></p><p>Whole exome DNA sequencing (WES) or whole genome DNA sequencing (WGS) allows detection of mutations and polymorphisms in all exonic and genomic regions, respectively, while messenger RNA sequencing (RNA-Seq) enables quantitative analysis of gene expression. Mutations in the genome result in diverse transcriptional aberrations that can be missed in a stand-alone WES/WGS analysis. An integration of DNA variant analysis and RNA-Seq analysis enables one to investigate the consequences of genomic changes in the RNA transcripts including germline and somatic changes, imprinting, RNA editing and allele specific expression (ASE). In this webinar, we will demonstrate this integrated approach using Strand NGS to identify high confidence mutations, RNA editing events and ASE in cancer.</p><p><strong>Webinar Details</strong></p><table width="100%" border="1" cellspacing="0" cellpadding="0">
<tbody>
<tr>
<td valign="top">
<p style="text-align: center;"><br /> <strong>Sessions</strong></p>
</td>
<td valign="top">
<p style="text-align: center;"><a href="http://www.strand-ngs.com/webinar_registration"><strong>San Francisco Time<br /> (PST)</strong></a></p>
</td>
<td valign="top">
<p style="text-align: center;"><a href="http://www.strand-ngs.com/webinar_registration"><strong>Tokyo Time<br /> (GMT+09:00)</strong></a></p>
</td>
<td valign="top">
<p style="text-align: center;"><a href="http://www.strand-ngs.com/webinar_registration"><strong>Berlin Time<br /> (GMT+01:00)</strong></a></p>
</td>
<td valign="top">
<p style="text-align: center;"><a href="http://www.strand-ngs.com/webinar_registration"><strong>Mumbai Time<br /> (GMT+05:30)</strong></a></p>
</td>
</tr>
<tr>
<td>
<p style="text-align: center;"><a href="http://www.strand-ngs.com/webinar_registration"><strong>Session 1</strong></a></p>
</td>
<td valign="top">
<p style="text-align: center;">25 Feb&nbsp;<br /> 12:30 AM</p>
</td>
<td>
<p style="text-align: center;">25 Feb&nbsp;<br /> 5:30 PM</p>
</td>
<td>
<p style="text-align: center;">25 Feb&nbsp;<br /> 9:30 AM</p>
</td>
<td>
<p style="text-align: center;">25 Feb&nbsp;<br /> 2:00 PM</p>
</td>
</tr>
<tr>
<td valign="top">
<p style="text-align: center;"><a href="http://www.strand-ngs.com/webinar_registration"><strong>Session 2</strong></a></p>
</td>
<td valign="top">
<p style="text-align: center;">25 Feb&nbsp;<br /> 9:00 AM</p>
</td>
<td>
<p style="text-align: center;">26 Feb<br /> 2:00 AM</p>
</td>
<td>
<p style="text-align: center;">25 Feb&nbsp;<br /> 6:00 PM</p>
</td>
<td>
<p style="text-align: center;">25 Feb&nbsp;<br /> 10:30 PM</p>
</td>
</tr>
</tbody>
</table><p><strong style="font-size: 12.8000001907349px;">Register here: </strong><a href="http://www.strand-ngs.com/webinar_registration">http://www.strand-ngs.com/webinar_registration</a></p><p><strong>About Speaker:</strong></p><p>Dr. Veena Hedatale, has a PhD in Plant Genetics from The Radboud University, Netherlands focused on meiosis and recombination. Her prior academic experience at Cornell University was on genetic mapping and gene transformation in Rice. She has worked with Monsanto, and contributed to data mining, database development as well as gene/promoter/pathway discovery for traits related to yield and stress in crop species. At Strand, Veena has worked on Pharmacogenomic analysis of targets and Gene family analysis projects. Currently, she is part of the Strand NGS Application Science team and is involved in the analysis of next generation sequencing data.</p><p>Please feel free to contact us 24/5, for availing free online training or if you have any questions.</p></div><div><p><strong style="font-size: 12.8000001907349px;">Email:</strong> sales@strandngs.com</p><p><strong>Phone (USA):</strong> 1-800-752-9122</p><p><strong>Phone (ROW):</strong> +1-650-353-5060</p><p>&nbsp;</p></div>]]></description>
	<dc:creator>Yeshodari</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/29407/live-webinar-on-rna-seq-data-analysis-on-9-nov-2016</guid>
	<pubDate>Wed, 19 Oct 2016 05:25:27 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/29407/live-webinar-on-rna-seq-data-analysis-on-9-nov-2016</link>
	<title><![CDATA[Live Webinar on RNA-Seq Data Analysis on 9 Nov 2016]]></title>
	<description><![CDATA[<p><strong><a href="http://www.strand-ngs.com/webinar_registration">Live Webinar on RNA-Seq Data Analysis</a></strong></p><p><a href="http://www.strand-ngs.com/webinar_registration">Abstract: </a>Strand NGS supports an extensive workflow for the analysis and visualization of RNA-Seq data. The workflow includes Transcriptome / Genome alignment, Differential expression analysis with Statistical approach and Splicing events detection. Strand NGS also supports novel discovery like identification of novel genes, exons and Novel splice junctions, alongside it can also detect gene fusion events. Further downstream analysis such as GO and pathway analysis can be performed on the set of interesting genes. The product has an option to create pipelines for time consuming jobs which automates analysis and leaves more time for end data interpretation. This webinar will give an overview of the features in the RNA-Seq data analysis workflow in Strand NGS and also highlights on parameters within each feature that can be optimized depending on datasets and analysis needs.</p><p><a href="http://www.strand-ngs.com/webinar_registration">Speaker:</a> Mr. Sugandan Sivamani, Senior Application Scientist, Strand Life Sciences</p><p>Date: 9th Nov, <a href="http://www.strand-ngs.com/webinar_registration">Session 1</a> for SAPK/ APFO: 2:30 PM IST Date: 9th Nov, <a href="http://www.strand-ngs.com/webinar_registration">Session 2</a> for AFO/ EMEA: 9:00 AM PST</p><p>Register here <a href="http://www.strand-ngs.com/webinar_registration">http://www.strand-ngs.com/webinar_registration</a></p>]]></description>
	<dc:creator>Strand</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/33486/quick-next-generation-sequencing-ngs-terms-definition</guid>
	<pubDate>Fri, 09 Jun 2017 04:52:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/33486/quick-next-generation-sequencing-ngs-terms-definition</link>
	<title><![CDATA[Quick next generation sequencing (NGS) terms definition]]></title>
	<description><![CDATA[<p><strong>fragment size:</strong><span>&nbsp;the Illumina WGS protocol generates paired-end reads from both ends of longer fragments. The lengths of these fragments are assumed to be sampled from a normal distribution. Therefore, in the absence of structural variants, mapping locations of the paired ends span within an interval [&delta;min,&delta;max]. Most (&gt;90%) of paired-end reads are sampled from no-SV regions, therefore the fragment size distribution can be learned empirically for each WGS data set separately.</span><br /><br /><strong>concordant reads:</strong><span>&nbsp;a read pair is called concordant if they can be mapped to the reference genome as &ldquo;expected&rdquo;: (a) mapped to opposing strands where the upstream read is mapped to the forward strand and the downstream read is mapped to the reverse strand2, (b) the distance between ends is between the minimum and maximum expected fragment size.</span><br /><br /><strong>discordant reads:</strong><span>&nbsp;briefly, any non-concordant read pair is considered discordant. Note that, by definition, the discordant read pairs signal potential SVs. The sequence signature produced by these type of reads is known as read-pair signature.</span><br /><br /><strong>split reads:</strong><span>&nbsp;a read that can only be mapped to the reference genome by breaking into two sub-reads is called a split-read. These types of reads also indicate a potential SV or a short insertion or deletion (indel).</span><br /><br /><strong>read depth:</strong><span>&nbsp;number of reads that map within a region of the genome. Overall genome-wide read depth is also referred to as depth of coverage. It is expected that the number of reads that &ldquo;cover&rdquo; each base-pair to follow a Poisson distribution. Therefore, if the read depth over a certain region deviates significantly from this distribution, it signals for a potential copy number variation (CNV).</span></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36518/mix-combining-multiple-assemblies-from-ngs-data</guid>
	<pubDate>Tue, 08 May 2018 04:58:05 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36518/mix-combining-multiple-assemblies-from-ngs-data</link>
	<title><![CDATA[MIX: Combining multiple assemblies from NGS data]]></title>
	<description><![CDATA[<p>Mix is a tool that combines two or more draft assemblies, without relying on a reference genome and has the goal to reduce contig fragmentation and thus speed-up genome finishing. The proposed algorithm builds an extension graph where vertices represent extremities of contigs and edges represent existing alignments between these extremities. These alignment edges are used for contig extension. The resulting output assembly corresponds to a path in the extension graph that maximizes the cumulative contig length.</p>
<p>The Mix algorithm, approach and results were published in BMC bioinformatics :&nbsp;<a href="http://www.biomedcentral.com/1471-2105/14/S15/S16">http://www.biomedcentral.com/1471-2105/14/S15/S16</a>.</p><p>Address of the bookmark: <a href="https://github.com/cbib/MIX" rel="nofollow">https://github.com/cbib/MIX</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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