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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/4574?offset=350</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>
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<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>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44754/early-genome-screening-the-new-health-horoscope</guid>
	<pubDate>Thu, 02 Jan 2025 19:44:36 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44754/early-genome-screening-the-new-health-horoscope</link>
	<title><![CDATA[Early Genome Screening: The New Health Horoscope!]]></title>
	<description><![CDATA[<p>In an era where precision medicine is reshaping healthcare, genome screening is emerging as the modern equivalent of a health horoscope. It offers insights into our biological "stars," unraveling predispositions to various conditions and empowering individuals with knowledge to navigate their health journeys proactively. But how reliable is this "horoscope," and how does it impact our lives?</p><h3>Understanding Genome Screening</h3><p>Genome screening involves analyzing an individual's DNA to identify genetic variations that may influence health and disease susceptibility. This can range from simple single-gene tests to comprehensive whole-genome sequencing. By peering into our genetic blueprint, we can uncover risks for conditions like cancer, diabetes, cardiovascular diseases, and even rare genetic disorders.</p><p>The process is straightforward: a saliva or blood sample is collected, and advanced sequencing technologies decipher the genetic code. The results provide a personalized health map, guiding lifestyle modifications, preventive measures, or medical interventions.</p><h3>A Shift from Reactive to Proactive Healthcare</h3><p>Traditional healthcare often focuses on treating diseases after they manifest. Genome screening flips this model on its head, enabling a shift toward prevention and early intervention. For instance:</p><ul>
<li>
<p><strong>Cancer Risk Management</strong>: Individuals with BRCA1 or BRCA2 gene mutations can opt for enhanced screening programs or preventive surgeries to mitigate their risk of breast and ovarian cancers.</p>
</li>
<li>
<p><strong>Cardiovascular Health</strong>: Genetic predispositions to conditions like familial hypercholesterolemia can prompt early cholesterol monitoring and lifestyle adjustments.</p>
</li>
<li>
<p><strong>Rare Diseases</strong>: Identifying carriers of genetic disorders can aid in family planning and reduce the incidence of inherited conditions.</p>
</li>
</ul><h3>The Ethical and Practical Concerns</h3><p>While genome screening offers incredible promise, it is not without challenges:</p><ol>
<li>
<p><strong>Accuracy and Interpretation</strong>: Genetic predisposition does not guarantee disease. Misinterpretation of results can lead to unnecessary anxiety or unwarranted medical interventions.</p>
</li>
<li>
<p><strong>Privacy and Data Security</strong>: Genetic data is highly sensitive. Ensuring robust data protection measures is crucial to prevent misuse.</p>
</li>
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<p><strong>Accessibility and Equity</strong>: High costs and limited availability may restrict access to genome screening, exacerbating health disparities.</p>
</li>
</ol><h3>Balancing Science and Pseudoscience</h3><p>The comparison of genome screening to horoscopes isn&rsquo;t entirely unfounded. Both offer predictive insights, but the scientific foundation of genome screening distinguishes it from astrology. Unlike the alignment of celestial bodies, genetic predictions are based on rigorous data and evidence. However, the probabilistic nature of genetic predispositions underscores the importance of interpreting results in conjunction with clinical and lifestyle factors.</p><h3>The Road Ahead</h3><p>As genome screening becomes more affordable and integrated into routine healthcare, its potential to transform lives is immense. Policymakers, healthcare providers, and genetic counselors must collaborate to ensure ethical implementation, public awareness, and equitable access.</p><p>Imagine a future where your genetic "horoscope" is a trusted guide, not just a prediction. Early genome screening could help chart a healthier path for generations, making it a cornerstone of personalized medicine. After all, our genes might just hold the key to unlocking a future of better health and well-being.</p><p>&nbsp;</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44902/hite-a-fast-and-accurate-dynamic-boundary-adjustment-approach-for-full-length-transposable-elements-detection-and-annotation-in-genome-assemblies</guid>
	<pubDate>Sat, 20 Sep 2025 09:34:04 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44902/hite-a-fast-and-accurate-dynamic-boundary-adjustment-approach-for-full-length-transposable-elements-detection-and-annotation-in-genome-assemblies</link>
	<title><![CDATA[HiTE: a fast and accurate dynamic boundary adjustment approach for full-length Transposable Elements detection and annotation in Genome Assemblies]]></title>
	<description><![CDATA[<p dir="auto"><code>HiTE</code>&nbsp;is a Python software that uses a dynamic boundary adjustment approach to detect and annotate full-length Transposable Elements in Genome Assemblies. In comparison to other tools, HiTE demonstrates superior performance in detecting a greater number of full-length TEs.</p>
<div dir="auto">
<h2 dir="auto">panHiTE</h2>
<a href="https://github.com/CSU-KangHu/HiTE#panhite"></a></div>
<p dir="auto">We have developed panHiTE, a comprehensive and accurate pipeline for TE detection in large-scale population genomes. It has been successfully applied to hundreds of plant population genomes, demonstrating its effectiveness and scalability.</p>
<p dir="auto">For detailed instructions, please refer to the&nbsp;<a href="https://github.com/CSU-KangHu/HiTE/wiki/panHiTE-tutorial">panHiTE tutorial</a>.</p><p>Address of the bookmark: <a href="https://github.com/CSU-KangHu/HiTE" rel="nofollow">https://github.com/CSU-KangHu/HiTE</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39453/fuma-gwas-functional-mapping-and-annotation-of-genome-wide-association-studies</guid>
	<pubDate>Sat, 01 Jun 2019 03:11:16 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39453/fuma-gwas-functional-mapping-and-annotation-of-genome-wide-association-studies</link>
	<title><![CDATA[FUMA GWAS: Functional Mapping and Annotation of Genome-Wide Association Studies]]></title>
	<description><![CDATA[<p><span>FUMA is a platform that can be used to annotate, prioritize, visualize and interpret GWAS results.&nbsp;</span><br><span>The&nbsp;</span><a href="https://fuma.ctglab.nl/snp2gene">SNP2GENE</a><span>&nbsp;function takes GWAS summary statistics as an input, and provides extensive functional annotation for all SNPs in genomic areas identified by lead SNPs.&nbsp;</span><br><span>The&nbsp;</span><a href="https://fuma.ctglab.nl/gene2func">GENE2FUNC</a><span>&nbsp;function takes a list of gene IDs (as identified by SNP2GENE or as provided manually) and annotates genes in biological context&nbsp;</span></p><p>Address of the bookmark: <a href="https://fuma.ctglab.nl/" rel="nofollow">https://fuma.ctglab.nl/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/27333/satsuma-highly-sensitive-whole-genome-synteny-alignments</guid>
	<pubDate>Fri, 13 May 2016 05:25:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/27333/satsuma-highly-sensitive-whole-genome-synteny-alignments</link>
	<title><![CDATA[SATSUMA : Highly sensitive whole-genome synteny alignments.]]></title>
	<description><![CDATA[<p>Satsuma is a whole-genome synteny alignment program. It takes two genomes, computes alignments, and then keeps only the parts that are orthologous, i.e. following the conserved order and orientation of features, such as protein coding genes, non-coding genes, or neutral sequences. Satsuma does not require any pre-processing, such as repeat masking, since it will automatically detect ambiguous mappings.<br> <br> Satsuma has parallelization built-in and is designed to run on multi-core architectures. The run-time for aligning two bird-size genomes (~1.2 Gb) is around two days on 24 CPUs. <br> <br> You can find the manual <a href="http://satsuma.sourceforge.net/manual.html">here</a>.<br> Download the latest source code from <a href="https://sourceforge.net/projects/satsuma/">here.</a><br> Stable versions can also be downloaded from the <a href="https://www.broadinstitute.org/science/programs/genome-biology/spines">Broad Institute's</a> web site.<br> <br> An incomplete list of questions and answers (yes, these have really been asked by our users! Please feel free to add your own by e-mailing us) is <a href="http://satsuma.sourceforge.net/faq.html">here</a>.<br> <br> If you use Satsuma in your research, please cite:<br> <a href="http://bioinformatics.oxfordjournals.org/content/26/9/1145.long">Grabherr, M. G., Russell, P., Meyer, M., Mauceli, E., Alf&ouml;ldi, J., Di Palma, F., &amp; Lindblad-Toh, K. (2010). Genome-wide synteny through highly sensitive sequence alignment: Satsuma. Bioinformatics, 26(9), 1145-51</a>.</p>
<p><strong>Tutorial at http://evomics.org/learning/genomics/satsuma/</strong></p><p>Address of the bookmark: <a href="http://satsuma.sourceforge.net/" rel="nofollow">http://satsuma.sourceforge.net/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/32855/maf2synteny</guid>
	<pubDate>Thu, 18 May 2017 05:31:30 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/32855/maf2synteny</link>
	<title><![CDATA[maf2synteny]]></title>
	<description><![CDATA[<p>A tool for converting for recovering synteny blocks from multiple alignment (in MAF fromat)</p>
<p>This tool is a standalone version of Ragout module [<a href="http://fenderglass.github./Ragout">http://fenderglass.github./Ragout</a>]</p><p>Address of the bookmark: <a href="https://github.com/fenderglass/maf2synteny" rel="nofollow">https://github.com/fenderglass/maf2synteny</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41694/mercator-multiple-whole-genome-orthology-map-construction</guid>
	<pubDate>Tue, 19 May 2020 16:46:22 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41694/mercator-multiple-whole-genome-orthology-map-construction</link>
	<title><![CDATA[Mercator: Multiple Whole-Genome Orthology Map Construction]]></title>
	<description><![CDATA[<p><span>Whole-genome homology maps attempt to identify the evolutionary relationships between and within multiple genomes. The term "syntenic" is often used to describe regions of multiple genomes that are believed to have evolved from the same region in an ancestral genome. However, it has been pointed out that this use of the term is incorrect (</span><a href="https://www.biostat.wisc.edu/~cdewey/mercator/#refSynteny">Passarge et al. 1999</a><span>) and thus we will use the terms "homologous", "orthologous", and "paralogous" instead. Ideally, given K genomes, we would like to identify all orthologous genomic regions as well as paralogous regions within each genome and hypothetical ancestral genome. Maps listing these relationships are extremely valuable to researchers performing comparative analyses of genomic sequence. Here we present our initial work in the form a program called&nbsp;</span><em>Mercator</em><span>&nbsp;that constructs orthology maps between multiple whole genomes.</span></p><p>Address of the bookmark: <a href="https://www.biostat.wisc.edu/~cdewey/mercator/" rel="nofollow">https://www.biostat.wisc.edu/~cdewey/mercator/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39881/apollo-a-sequence-annotation-editor</guid>
	<pubDate>Tue, 27 Aug 2019 08:08:47 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39881/apollo-a-sequence-annotation-editor</link>
	<title><![CDATA[Apollo: a sequence annotation editor]]></title>
	<description><![CDATA[<p><span>The well-established inaccuracy of purely computational methods for annotating genome sequences necessitates an interactive tool to allow biological experts to refine these approximations by viewing and independently evaluating the data supporting each annotation. Apollo was developed to meet this need, enabling curators to inspect genome annotations closely and edit them</span></p><p>Address of the bookmark: <a href="https://genomebiology.biomedcentral.com/articles/10.1186/gb-2002-3-12-research0082" rel="nofollow">https://genomebiology.biomedcentral.com/articles/10.1186/gb-2002-3-12-research0082</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42148/chromatiblock-scalable-whole-genome-visualisation-of-structural-changes-in-prokaryotes</guid>
	<pubDate>Sat, 22 Aug 2020 05:17:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42148/chromatiblock-scalable-whole-genome-visualisation-of-structural-changes-in-prokaryotes</link>
	<title><![CDATA[chromatiblock: Scalable, whole-genome visualisation of structural changes in prokaryotes]]></title>
	<description><![CDATA[<p>To create a fresh environment for chromatiblock to run in do:</p>
<pre><code>conda create --name chromatiblock
conda activate chromatiblock
conda install chromatiblock --channel conda-forge --channel bioconda
</code></pre>
<p>Then in future to run chromatiblock you can reactivate this environemtn using&nbsp;<code>conda activate chromatiblock</code></p>
<h4><a href="https://github.com/mjsull/chromatiblock#direct-download"></a>Direct download:</h4>
<p>Alternatively you can download and run the script from&nbsp;<a href="https://github.com/mjsull/chromatiblock/releases/download/v0.4.1/chromatiblock">here</a>.</p><p>Address of the bookmark: <a href="https://github.com/mjsull/chromatiblock" rel="nofollow">https://github.com/mjsull/chromatiblock</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/33960/mgra-breakpoint-graphs-and-ancestral-genome-reconstructions</guid>
	<pubDate>Tue, 25 Jul 2017 08:48:25 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/33960/mgra-breakpoint-graphs-and-ancestral-genome-reconstructions</link>
	<title><![CDATA[MGRA: Breakpoint graphs and ancestral genome reconstructions]]></title>
	<description><![CDATA[<p>MGRA (Multiple Genome Rearrangements and Ancestors) is a tool for reconstruction of ancestor genomes and evolutionary history of extant genomes.</p>
<p>It takes as an input a set of genomes represented as sequences of genes (or synteny blocks) and produces such sequences for ancestral genomes at the internal nodes of the phylogenetic tree.</p>
<p>The phylogenetic tree may be also specified completely or partially, in the latter case MGRA can reconstruct conserved ancestral regions (CARs) of the ancestral genome of interest.</p>
<p>Since version 2 MGRA supports gene insertion and deletions in addition to genome rearrangements and allows the input genomes to have different gene content.</p>
<p>It also can reconstruct most plausible phylogenetic tree based on the rearrangement characters.</p><p>Address of the bookmark: <a href="http://mgra.cblab.org/" rel="nofollow">http://mgra.cblab.org/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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