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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/40573?offset=470</link>
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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>
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<p>Simulates population evolution forward in time</p>
</li>
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<p>Supports custom evolutionary models using an embedded scripting language</p>
</li>
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<p>Allows modeling of spatial and ecological dynamics</p>
</li>
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<p>Provides high flexibility and extensibility for user-defined scenarios</p>
</li>
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<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>
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<p>Efficiently simulates large population histories</p>
</li>
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<p>Supports the addition of mutations to genealogies</p>
</li>
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<p>Developed using an open-source community model</p>
</li>
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<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/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/blog/view/45349/finding-the-hidden-switches-the-story-of-kinext-and-protein-kinases</guid>
	<pubDate>Thu, 24 Sep 2026 02:51:28 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45349/finding-the-hidden-switches-the-story-of-kinext-and-protein-kinases</link>
	<title><![CDATA[Finding the Hidden Switches: The Story of KiNext and Protein Kinases]]></title>
	<description><![CDATA[<p>Every newly sequenced genome contains thousands of proteins, but identifying what each protein does is a much harder task. Among these proteins are protein kinases, important molecular regulators that control processes such as cell growth, development, metabolism, stress responses, and signaling. Finding these kinases and determining which families they belong to can reveal important clues about how an organism functions and has evolved.</p><p>This is where KiNext comes into the picture. Introduced in a 2024 study published in BMC Bioinformatics, KiNext is a computational workflow designed to identify and classify protein kinases from predicted protein sequences. Instead of relying on a single search method, it brings together several approaches, including Hidden Markov Models, sequence alignment, phylogenetic analysis, and structural comparison.</p><p>The search begins with a simple question: does a protein contain the characteristics of a kinase? Protein kinases can change considerably during evolution, but important regions of their sequences often retain recognizable patterns. KiNext uses Hidden Markov Models, or HMMs, to detect these patterns. An HMM does not require a protein to be an exact match to a known kinase. Instead, it looks for a statistical sequence signature associated with kinase proteins, making it possible to detect more distant candidates.</p><p>Once potential kinases are identified, KiNext takes the analysis further. It distinguishes conventional eukaryotic protein kinases from atypical protein kinases and then attempts to classify them into different kinase groups and families. This distinction is important because simply identifying a protein as a kinase does not tell the complete story. Different kinase families can have very different evolutionary histories and biological functions.</p><p>The next stage brings evolution into the picture. KiNext can align kinase sequences and construct phylogenetic trees, allowing researchers to examine how newly identified proteins are related to previously characterized kinases. When sequence evidence alone is difficult to interpret, structural information can provide another clue. The workflow can incorporate AlphaFold-predicted structures and Foldseek-based structural comparisons to investigate whether an unusual protein resembles known kinase structures.</p><p>The researchers tested KiNext using two very different organisms: the Pacific oyster, Crassostrea gigas, and the green alga Ostreococcus tauri. In C. gigas, KiNext recovered previously reported kinases while identifying additional candidates. Structural analysis provided further evidence for many of the newly detected proteins. In O. tauri, the workflow similarly recovered most previously reported kinases and identified additional candidates while refining some of their classifications.</p><p>What makes KiNext particularly interesting is not just its ability to find kinases, but how the entire analysis is organized. The workflow uses Nextflow, allowing the different computational steps to be connected into a reproducible pipeline. Containers can also help manage software dependencies, making it easier to run the workflow across different computing environments.</p><p>This reproducibility becomes increasingly important as the number of available genomes continues to grow. A researcher studying one organism may be able to perform an analysis manually, but repeating the same process across hundreds or thousands of genomes quickly becomes impractical. A standardized workflow provides a way to perform the analysis consistently while keeping track of how the results were generated.</p><p>At its core, KiNext demonstrates a broader change taking place in modern genomics. Sequencing a genome provides an enormous amount of information, but the real scientific challenge begins afterward: understanding what all those sequences mean. Protein kinases are only one part of this larger puzzle, yet they are particularly important because they act as molecular switches throughout the cell.</p><p>By combining sequence profiles, evolutionary analysis, and structural evidence within a reproducible computational framework, KiNext provides researchers with a systematic way to uncover these molecular switches. Its real value lies not only in finding more kinases, but in making the process scalable, repeatable, and easier to apply to new genomes.</p><p>As genome sequencing continues to expand across the tree of life, tools such as KiNext can help turn enormous collections of protein sequences into meaningful biological stories&mdash;one kinase at a time.</p><p>Read more about it @</p><p>https://link.springer.com/article/10.1186/s12859-024-05953-w</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/20015/illumina-smartphone-chip</guid>
	<pubDate>Tue, 30 Dec 2014 23:19:54 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/20015/illumina-smartphone-chip</link>
	<title><![CDATA[Illumina Smartphone Chip !!!]]></title>
	<description><![CDATA[<p>Illumina, the company that claims it brought human genome sequencing down to $1000 prices, has now turned its attention to a consumer product - a chip that you can plug into your smartphone and have it read your genetic information.<br /><br />The biggest challenge ahead of Illumina is simplifying the process of genetic sequencing. Currently, Illumina&rsquo;s DNA sequencers are gigantic machines that use techinques like colorimetry to work, but while the core technology is computational, it takes some 30 steps to extract genetic data and run it through. This process will likely have to be hugely simplified on mobile devices, given the fact that some studies require extracting 10 mililiters of blood. Illumina researchers are also working on finding the optimal technology for this on-chip DNA sequencing - be it electrical, optical, or other.<br /><br />Illumina is one of the most prominent names in genetics, often said to be the Intel of genetic sequencing, as just like Intel it provides the algorithms, the processing brain that runs a DNA reading task.<br /><br />In other recent smartphone-related biotech news, drug company Pfizer launched its REMOTE project, a new type of clinical trial that does not require going to a hospital for checks - targeted at patients with overactive bladder problems, the FDA-approved REMOTE project allowed to gather data from patients from over 10 states remotely, via mobile devices.<br /><br /></p><p>This is indeed the Illumina answer to Apple's Health app, HealthBook, Google HealthFit.</p>]]></description>
	<dc:creator>Robert M Willioms</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37759/pandaseq-is-a-program-to-align-illumina-reads-optionally-with-pcr-primers-embedded-in-the-sequence-and-reconstruct-an-overlapping-sequence</guid>
	<pubDate>Fri, 21 Sep 2018 10:19:52 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37759/pandaseq-is-a-program-to-align-illumina-reads-optionally-with-pcr-primers-embedded-in-the-sequence-and-reconstruct-an-overlapping-sequence</link>
	<title><![CDATA[PANDASEQ is a program to align Illumina reads, optionally with PCR primers embedded in the sequence, and reconstruct an overlapping sequence.]]></title>
	<description><![CDATA[<p>Development packages for zlib and libbz2 are needed, as well as a standard compiler environment. On Ubuntu, this can be installed via:</p>
<pre><code>sudo apt-get install build-essential libtool automake zlib1g-dev libbz2-dev pkg-config
</code></pre>
<p>On MacOS, the Apple Developer tools and Fink (or MacPorts or Brew) must be installed, then:</p>
<pre><code>sudo fink install bzip2-dev pkgconfig</code></pre><p>Address of the bookmark: <a href="https://github.com/neufeld/pandaseq" rel="nofollow">https://github.com/neufeld/pandaseq</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40893/quorum-an-error-corrector-for-illumina-reads</guid>
	<pubDate>Tue, 04 Feb 2020 23:26:55 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40893/quorum-an-error-corrector-for-illumina-reads</link>
	<title><![CDATA[QuorUM: An Error Corrector for Illumina Reads]]></title>
	<description><![CDATA[<p><span>We produce trimmed and error-corrected reads that result in assemblies with longer contigs and fewer errors. We compared QuorUM against several published error correctors and found that it is the best performer in most metrics we use. QuorUM is efficiently implemented making use of current multi-core computing architectures and it is suitable for large data sets (1 billion bases checked and corrected per day per core)</span></p><p>Address of the bookmark: <a href="http://www.genome.umd.edu/" rel="nofollow">http://www.genome.umd.edu/</a></p>]]></description>
	<dc:creator>BioStar</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/bookmarks/view/36621/hapcut2-robust-and-accurate-haplotype-assembly-for-diverse-sequencing-technologies</guid>
	<pubDate>Tue, 15 May 2018 07:35:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36621/hapcut2-robust-and-accurate-haplotype-assembly-for-diverse-sequencing-technologies</link>
	<title><![CDATA[HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies]]></title>
	<description><![CDATA[HapCUT2 is a maximum-likelihood-based tool for assembling haplotypes from DNA sequence reads, designed to "just work" with excellent speed and accuracy. We found that previously described haplotype assembly methods are specialized for specific read technologies or protocols, with slow or inaccurate performance on others. With this in mind, HapCUT2 is designed for speed and accuracy across diverse sequencing technologies, including but not limited to:

NGS short reads (Illumina HiSeq)
clone-based sequencing (Fosmid or BAC clones)
SMRT reads (PacBio)
Oxford Nanopore reads
10X Genomics Linked-Reads
proximity-ligation (Hi-C) reads
high-coverage sequencing (&gt;40x coverage-per-SNP) using above technologies
combinations of the above technologies (e.g. scaffold long reads with Hi-C reads)
See below for specific examples of command line options and best practices for some of these technologies.

NOTE: At this time HapCUT2 is for diploid organisms only. VCF input should contain diploid variants.

If you use HapCUT2 in your research, please cite:

Edge, P., Bafna, V. &amp; Bansal, V. HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies. Genome Res. gr.213462.116 (2016). doi:10.1101/gr.213462.116<p>Address of the bookmark: <a href="https://github.com/vibansal/HapCUT2" rel="nofollow">https://github.com/vibansal/HapCUT2</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37291/transrate-understanding-your-transcriptome-assembly</guid>
	<pubDate>Fri, 13 Jul 2018 07:49:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37291/transrate-understanding-your-transcriptome-assembly</link>
	<title><![CDATA[transrate: Understanding your transcriptome assembly]]></title>
	<description><![CDATA[<p><span>Transrate is software for&nbsp;</span><em>de-novo</em><span>&nbsp;transcriptome assembly quality analysis. It examines your assembly in detail and compares it to experimental evidence such as the sequencing reads, reporting quality scores for contigs and assemblies. This allows you to choose between assemblers and parameters, filter out the bad contigs from an assembly, and help decide when to stop trying to improve the assembly.</span></p><p>Address of the bookmark: <a href="http://hibberdlab.com/transrate/index.html" rel="nofollow">http://hibberdlab.com/transrate/index.html</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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