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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/44549?offset=340</link>
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	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44628/uncovar-workflow-for-transparent-and-robust-virus-variant-calling-genome-reconstruction-and-lineage-assignment</guid>
	<pubDate>Mon, 05 Aug 2024 23:01:29 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44628/uncovar-workflow-for-transparent-and-robust-virus-variant-calling-genome-reconstruction-and-lineage-assignment</link>
	<title><![CDATA[UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment]]></title>
	<description><![CDATA[<p>UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment</p>
<ul>
<li>
<p>Using state of the art tools, easily extended for other viruses</p>
</li>
<li>
<p>Tool and database updates for critical components via Conda</p>
</li>
<li>
<p>Built using modern design patterns with Conda and Snakemake</p>
</li>
<li>
<p>Extensible and easy to customize</p>
</li>
<li>
<p>Submission Ready Genomes</p>
</li>
<li>
<p>Customizable reporting with comprehensive visualization</p>
</li>
</ul>
<p>https://ikim-essen.github.io/uncovar/</p>
<p>Github&nbsp;https://github.com/IKIM-Essen/uncovar</p>
<p>&nbsp;</p>
<p>&nbsp;</p><p>Address of the bookmark: <a href="https://ikim-essen.github.io/uncovar/" rel="nofollow">https://ikim-essen.github.io/uncovar/</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<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>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42963/davi-deep-learning-based-tool-for-alignment-and-single-nucleotide-variant-identification</guid>
	<pubDate>Tue, 16 Mar 2021 05:41:33 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42963/davi-deep-learning-based-tool-for-alignment-and-single-nucleotide-variant-identification</link>
	<title><![CDATA[DAVI: Deep learning-based tool for alignment and single nucleotide variant identification]]></title>
	<description><![CDATA[<p>DAVI consists of models for both global and local alignment and for variant calling. We have evaluated the performance of DAVI against existing state-of-the-art tool sets and found that its accuracy and performance is comparable to existing tools used for bench-marking. We further demonstrate that while existing tools are based on data generated from a specific sequencing technology, the models proposed in DAVI are generic and can be used across different NGS technologies as well as across different species</p>
<p>https://iopscience.iop.org/article/10.1088/2632-2153/ab7e19/pdf</p><p>Address of the bookmark: <a href="https://github.com/gguptaiitd/NEAT" rel="nofollow">https://github.com/gguptaiitd/NEAT</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42038/pyparanoid-a-pipeline-for-rapid-identification-of-homologous-gene-families-in-a-set-of-genomes</guid>
	<pubDate>Thu, 13 Aug 2020 10:06:19 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42038/pyparanoid-a-pipeline-for-rapid-identification-of-homologous-gene-families-in-a-set-of-genomes</link>
	<title><![CDATA[PyParanoid: a pipeline for rapid identification of homologous gene families in a set of genomes]]></title>
	<description><![CDATA[<p>PyParanoid is a pipeline for rapid identification of homologous gene families in a set of genomes - a central task of any comparative genomics analysis. The "gold standard" for identifying homologs is to use reciprocal best hits (RBHs) which depends on performing a all-vs-all sequence comparison, usually using BLAST, to determine homology. However, these methods are computationally expensive, requiring&nbsp;O(n2)&nbsp;resources to identify RBHs. This is problematic, as the modern deluge of sequencing data means that comparative genomics analyses could be performed on datasets of thousands of strains.</p><p>Address of the bookmark: <a href="https://github.com/ryanmelnyk/PyParanoid" rel="nofollow">https://github.com/ryanmelnyk/PyParanoid</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34324/orthognc-a-software-for-accurate-identification-of-orthologs-based-on-gene-neighborhood-conservation</guid>
	<pubDate>Tue, 14 Nov 2017 09:30:35 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34324/orthognc-a-software-for-accurate-identification-of-orthologs-based-on-gene-neighborhood-conservation</link>
	<title><![CDATA[OrthoGNC: A Software for Accurate Identification of Orthologs Based on Gene Neighborhood Conservation]]></title>
	<description><![CDATA[<div>
<p id="sp0005">Orthology relations can be used to transfer annotations from one gene (or protein) to another. Hence, detecting orthology relations has become an important task in the post-genomic era. Various genomic events, such as duplication and horizontal gene transfer, can cause erroneous assignment of orthology relations. In closely-related species, gene neighborhood information can be used to resolve many ambiguities in orthology inference. Here we present OrthoGNC, a software for accurately predicting pairwise orthology relations based on gene neighborhood conservation. Analyses on simulated and real data reveal the high accuracy of OrthoGNC. In addition to orthology detection, OrthoGNC can be employed to investigate the conservation of genomic context among potential orthologs detected by other methods. OrthoGNC is freely available online at http://bs.ipm.ir/softwares/orthognc and http://tinyurl.com/orthoGNC.</p>
<p>http://www.comp.nus.edu.sg/~wongls/projects/orthoGNC/</p>
</div><p>Address of the bookmark: <a href="http://www.sciencedirect.com/science/article/pii/S1672022917301663" rel="nofollow">http://www.sciencedirect.com/science/article/pii/S1672022917301663</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36015/repeat-aware-repeat-aware-scaffolding-evaluation-framework-by-igor-mandric</guid>
	<pubDate>Wed, 21 Mar 2018 18:10:00 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36015/repeat-aware-repeat-aware-scaffolding-evaluation-framework-by-igor-mandric</link>
	<title><![CDATA[repeat-aware: Repeat aware scaffolding evaluation framework by Igor Mandric]]></title>
	<description><![CDATA[<p>Genome scaffolding is a classical challenging problem in bioinformatics. It refers to joining assembly contigs into chains (called scaffolds). The join between two contigs A and B is considered correct if:</p>
<ul>
<li>Their relative orientation is correct</li>
<li>Their relative order is correct</li>
<li>The gap estimate is similar to the true distance on the reference</li>
</ul>
<p>The problem of scaffolding validation is also a challenging one. One of the main issues which hinders from an adequate scaffolding evaluation are genome repeats. The previous standard for evaluation&nbsp;<a href="https://genomebiology.biomedcentral.com/articles/10.1186/gb-2014-15-3-r42">(Hunt et al.,&nbsp;<em>Genome Biology</em>, 2014)</a>&nbsp;did not take into account repeats. In this evaluation framework, repeats are taken into account.</p>
<p style="text-align: center;"><a href="https://camo.githubusercontent.com/9675b90205e5bc0dc0b6b84b321b00bc87d8d88e/687474703a2f2f616c616e2e63732e6773752e6564752f7265706561742d61776172652f6669677572652e706e67" target="_blank"><img src="https://camo.githubusercontent.com/9675b90205e5bc0dc0b6b84b321b00bc87d8d88e/687474703a2f2f616c616e2e63732e6773752e6564752f7265706561742d61776172652f6669677572652e706e67" width="75%" alt="image" style="border: 0px;"></a></p>
<p>The new evaluation framework considers the optimal assignment of contigs in the output scaffolding to contigs in the reference scaffolding in the sense of the number of correct links.</p>
<p>&nbsp;</p>
<p>https://github.com/mandricigor/repeat-aware</p><p>Address of the bookmark: <a href="https://github.com/mandricigor/repeat-aware" rel="nofollow">https://github.com/mandricigor/repeat-aware</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/33482/tardis-toolkit-for-automated-and-rapid-discovery-of-structural-variants</guid>
	<pubDate>Fri, 09 Jun 2017 04:43:31 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/33482/tardis-toolkit-for-automated-and-rapid-discovery-of-structural-variants</link>
	<title><![CDATA[TARDIS: Toolkit for automated and rapid discovery of structural variants]]></title>
	<description><![CDATA[<p>tardis</p>
<p>Toolkit for Automated and Rapid DIscovery of Structural variants</p>
<p>Requirements</p>
<p>zlib (http://www.zlib.net)<br>mrfast (https://github.com/BilkentCompGen/mrfast)<br>htslib (included as submodule; http://htslib.org/)<br>Fetching tardis</p>
<p>git clone https://github.com/BilkentCompGen/tardis.git --recursive</p>
<p>&nbsp;</p>
<p>https://github.com/BilkentCompGen/tardis</p><p>Address of the bookmark: <a href="https://github.com/BilkentCompGen/tardis" rel="nofollow">https://github.com/BilkentCompGen/tardis</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39441/snakepipes-a-toolkit-based-on-snakemake-and-python-for-analysis-of-ngs-data</guid>
	<pubDate>Thu, 30 May 2019 04:06:13 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39441/snakepipes-a-toolkit-based-on-snakemake-and-python-for-analysis-of-ngs-data</link>
	<title><![CDATA[snakepipes: A toolkit based on snakemake and python for analysis of NGS data]]></title>
	<description><![CDATA[<p><span><span>snakePipes are flexible and powerful workflows built using&nbsp;</span><a href="https://github.com/maxplanck-ie/snakepipes/blob/master/snakemake.readthedocs.io">snakemake</a><span>&nbsp;that simplify the analysis of NGS data.</span></span></p>
<ul>
<li>DNA-mapping*</li>
<li>ChIP-seq*</li>
<li>RNA-seq*</li>
<li>ATAC-seq*</li>
<li>scRNA-seq</li>
<li>Hi-C</li>
<li>Whole Genome Bisulfite Seq/WGBS</li>
</ul>
<p><span>(*Also available in "allele-specific" mode)</span></p>
<p><span>snakePipes can be installed via conda : </span></p>
<p><span>'conda install -c mpi-ie -c bioconda -c conda-forge snakePipes'. </span></p>
<p><span>Source code (</span><a href="https://github.com/maxplanck-ie/snakepipes" target="">https://github.com/maxplanck-ie/snakepipes</a><span>) and documentation (</span><a href="https://snakepipes.readthedocs.io/en/latest/" target="">https://snakepipes.readthedocs.io/en/latest/</a><span>) are available online.</span></p><p>Address of the bookmark: <a href="https://github.com/maxplanck-ie/snakepipes" rel="nofollow">https://github.com/maxplanck-ie/snakepipes</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<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>
</item>
<item>
	<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>
</item>

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