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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/42987?offset=100</link>
	<atom:link href="https://bioinformaticsonline.com/related/42987?offset=100" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	
<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/43559/job-offer-for-a-postdoctoral-researcher-in-genomics-bioinformatics-2-years</guid>
  <pubDate>Fri, 22 Oct 2021 04:44:33 -0500</pubDate>
  <link></link>
  <title><![CDATA[Job offer for a postdoctoral researcher in genomics / bioinformatics (2 years)]]></title>
  <description><![CDATA[
<p>Ongoing research in the group of Karine Van Doninck involves topics at the core of<br />evolutionary biology, including the evolution of sex, genome maintenance,<br />recombination and extreme stress resistance on different eukaryotic systems,<br />including rotifers, amoeba and Corbicula clams. We are employing different tools<br />(including experimental ecology, population genetics, phylogeny, comparative<br />genomics, transcriptomics, bioinformatics, molecular and cellular biology) to study<br />evolutionary processes at the level of populations, both experimental and natural, and<br />genomes.</p>

<p>Offer<br />We offer a full-time contract for two years. The contract starts between October 2021<br />and December 2021. The position involves no or extremely light teaching load, if the<br />candidate is interested. Salaries are competitive at the European level. The recruited<br />person will benefit from the Belgian social insurance scheme (health care, etc.) without<br />additional expenses.</p>

<p>Profile<br />Applicants are expected to show outstanding commitment to research and must have<br />obtained a PhD by the start of the position. A strong expertise in genomics is required.<br />More specifically, solid competences in bioinformatics (e.g. scripting pipelines) and in<br />genome evolution are needed. Knowledge or interest regarding recombination,<br />metazoan evolution, phylogenomics and population genomics is an added-value.</p>

<p>Application<br />Applications should be submitted via email to karine.van.doninck@ulb.be. The<br />application package should contain the following documents:<br />- A curriculum vitae with the complete list of publications<br />- A cover letter mentioning why the candidate is interested in the position<br />- Minimum 2 recommendation letters<br />Interviews: Interviews will be conducted with the selected candidates. Selected<br />candidates could also be invited to give a seminar to MBE ULB.<br />For any additional information, please contact karine.van.doninck@ulb.be</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/43670/useful-bioinformatics-analysis-tools</guid>
	<pubDate>Thu, 23 Dec 2021 23:10:02 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/43670/useful-bioinformatics-analysis-tools</link>
	<title><![CDATA[Useful Bioinformatics Analysis Tools !]]></title>
	<description><![CDATA[<h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=cometa&amp;subpage=about">CoMeta</a></h3><p><strong>Classificier of reads from metagenomic sequencing experiments.</strong></p><p><span>&bull;&nbsp;&nbsp;Kawulok, J., Deorowicz, S.,&nbsp;</span><em>CoMeta: Classification of Metagenomes Using k-mers</em><span>,&nbsp;</span><a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0121453">PLOS ONE,&nbsp;</a><span>2015; 10(4):1&ndash;23,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=CoMSA&amp;subpage=about">CoMSA</a></h3><p><strong>Compressor of multiple sequence alignments of proteins.</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S., Walczyszyn, J., Debudaj-Grabysz, A.,&nbsp;</span><em>CoMSA: compression of protein multiple sequence alignment files</em><span>,&nbsp;</span><a href="https://doi.org/10.1093/bioinformatics/bty619">Bioinformatics,&nbsp;</a><span>2019; 35(2):22&ndash;234,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=dsrc&amp;subpage=about">DSRC</a></h3><p><strong>Compressor of sequencing reads.</strong></p><p><span>&bull;&nbsp;&nbsp;Roguski, L., Deorowicz, S.,&nbsp;</span><em>DSRC 2: Industry-oriented compression of FASTQ files</em><span>,&nbsp;</span><a href="http://bioinformatics.oxfordjournals.org/content/30/15/2213">Bioinformatics,&nbsp;</a><span>2014; 30(15):2213&ndash;2215,</span><br /><span>&bull;&nbsp;&nbsp;Deorowicz, S., Grabowski, Sz.,&nbsp;</span><em>Compression of DNA sequences in FASTQ format</em><span>,&nbsp;</span><a href="http://bioinformatics.oxfordjournals.org/">Bioinformatics,&nbsp;</a><span>2011; 27(6):860&ndash;862,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=famsa&amp;subpage=about">FAMSA</a></h3><p><strong>Multiple sequence alignment designed for huge families of proteins (even containing hundreds of thousands of sequences).</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S., Debudaj-Grabysz, A., Gudys, A.,&nbsp;</span><em>FAMSA: Fast and accurate multiple sequence alignment of huge protein families</em><span>,&nbsp;</span><a href="http://www.nature.com/articles/srep33964">Scientific Reports,&nbsp;</a><span>2016; 6(33964):</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=fastore&amp;subpage=about">FaStore</a></h3><p><strong>Compressor of FASTQ files.</strong></p><p><span>&bull;&nbsp;&nbsp;Roguski, L., Ochoa, I., Hernaez, M., Deorowicz, S.,&nbsp;</span><em>FaStore - a space-saving solution for raw sequencing data</em><span>,&nbsp;</span><a href="https://doi.org/10.1093/bioinformatics/bty205">Bioinformatics,&nbsp;</a><span>2018; 34(16):2748&ndash;2756,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=fqsqueezer&amp;subpage=about">FQSqueezer</a></h3><p><strong>Experimental high-end compressor of FASTQ files.</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S.,&nbsp;</span><em>FQSqueezer: k-mer-based compression of sequencing data</em><span>,&nbsp;</span><a href="https://www.nature.com/articles/s41598-020-57452-6">Scientific Reports,&nbsp;</a><span>2020; 10(578):</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=gdc&amp;subpage=about">GDC</a></h3><p><strong>Compressor of collections of genome sequences.</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S., Danek, A., Niemiec, M.,&nbsp;</span><em>GDC 2: Compression of large collections of genomes</em><span>,&nbsp;</span><a href="http://www.nature.com/srep/2015/150625/srep11565/full/srep11565.html">Scientific Reports,&nbsp;</a><span>2015; 5(11565):1&ndash;12,</span><br /><span>&bull;&nbsp;&nbsp;Deorowicz, S., Grabowski, Sz.,&nbsp;</span><em>Robust relative compression of genomes with random access</em><span>,&nbsp;</span><a href="http://sun.aei.polsl.pl/REFRESH/bioinformatics.oxfordjournals.org/content/27/21/2979.abstract">Bioinformatics,&nbsp;</a><span>2011; 27(21):2979&ndash;2986,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=gtc&amp;subpage=about">GTC</a></h3><p><strong>Genotype databases compressor with support for fast queries.</strong></p><p><span>&bull;&nbsp;&nbsp;Danek, A., Deorowicz, S.,&nbsp;</span><em>GTC: how to maintain huge genotype collections in a compressed form</em><span>,&nbsp;</span><a href="https://doi.org/10.1093/bioinformatics/bty023">Bioinformatics,&nbsp;</a><span>2018; 34(11):1834&ndash;1840,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=gtshark&amp;subpage=about">GTShark</a></h3><p><strong>Genotypes compressor.</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S., Danek, A.,&nbsp;</span><em>GTShark: Genotype compression in large projects</em><span>,&nbsp;</span><a href="https://doi.org/10.1093/bioinformatics/btz508">Bioinformatics,&nbsp;</a><span>2019; 35(22):4791&ndash;4793,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=kmc&amp;subpage=about">KMC</a></h3><p><strong>Memory frugal&nbsp;<em>k</em>-mer counter.</strong></p><p><span>&bull;&nbsp;&nbsp;Kokot, M., Długosz, M., Deorowicz, S.,&nbsp;</span><em>KMC 3: counting and manipulating k -mer statistics</em><span>,&nbsp;</span><a href="https://doi.org/10.1093/bioinformatics/btx304">Bioinformatics,&nbsp;</a><span>2017; 33(17):2759&ndash;2761,</span><br /><span>&bull;&nbsp;&nbsp;Deorowicz, S., Kokot, M., Grabowski, Sz., Debudaj-Grabysz, A.,&nbsp;</span><em>KMC 2: Fast and resource-frugal k-mer counting</em><span>,&nbsp;</span><a href="https://doi.org/10.1093/bioinformatics/btv022">Bioinformatics,&nbsp;</a><span>2015; 31(10):1569&ndash;1576,</span><br /><span>&bull;&nbsp;&nbsp;Deorowicz, S., Debudaj-Grabysz, A., Grabowski, Sz.,&nbsp;</span><em>Disk-based k-mer counting on a PC</em><span>,&nbsp;</span><a href="http://www.biomedcentral.com/1471-2105/14/160">BMC Bioinformatics,&nbsp;</a><span>2013; 14():Article no. 160,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=kmer-db&amp;subpage=about">Kmer-db</a></h3><p><strong>Tool for estimation of evolutionary distances in a collection of genomes.</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S., Gudys, A., Dlugosz, M., Kokot, M., Danek, A.,&nbsp;</span><em>Kmer-db: instant evolutionary distance estimation</em><span>,&nbsp;</span><a href="https://doi.org/10.1093/bioinformatics/bty610">Bioinformatics,&nbsp;</a><span>2019; 35(1):133&ndash;136,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=mugi&amp;subpage=about">MuGI</a></h3><p><strong>Index allowing queries for a collection of multiple genome sequences.</strong></p><p><span>&bull;&nbsp;&nbsp;Danek, A., Deorowicz, S., Grabowski, Sz.,&nbsp;</span><em>Indexes of Large Genome Collections on a PC</em><span>,&nbsp;</span><a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109384">PLOS ONE,&nbsp;</a><span>2014; 9(10):e109384,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=orcom&amp;subpage=about">ORCOM</a></h3><p><strong>Experimental compressor of sequencing reads.</strong></p><p><span>&bull;&nbsp;&nbsp;Grabowski, Sz., Deorowicz, S., Roguski, L.,&nbsp;</span><em>Disk-based compression of data from genome sequencing</em><span>,&nbsp;</span><a href="http://bioinformatics.oxfordjournals.org/content/early/2014/12/22/bioinformatics.btu844.abstract">Bioinformatics,&nbsp;</a><span>2014; 31(9):1389&ndash;1395,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=pgsa&amp;subpage=about">PgSA</a></h3><p><strong>Index allowing queries for a collection of sequencing reads.</strong></p><p><span>&bull;&nbsp;&nbsp;Kowalski, T., Grabowski, Sz., Deorowicz, S.,&nbsp;</span><em>Indexing arbitrary-length k-mers in sequencing reads</em><span>,&nbsp;</span><a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133198">PLOS ONE,&nbsp;</a><span>2015; 10(7):1&ndash;16,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=quickprobs&amp;subpage=about">QuickProbs</a></h3><p><strong>Multiple sequence alignment designed especially for GPU.</strong></p><p><span>&bull;&nbsp;&nbsp;Gudys, A., Deorowicz, S.,&nbsp;</span><em>QuickProbs 2: towards rapid construction of high-quality alignments of large protein families</em><span>,&nbsp;</span><a href="http://www.nature.com/articles/srep41553">Scientific Reports,&nbsp;</a><span>2017; 7(41553):</span><br /><span>&bull;&nbsp;&nbsp;Gudys, A., Deorowicz, S.,&nbsp;</span><em>QuickProbs &ndash; A Fast Multiple Sequence Alignment Algorithm Designed for Graphics Processors</em><span>,&nbsp;</span><a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0088901">PLOS ONE,&nbsp;</a><span>2014; 9(2):e88901,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=reckoner&amp;subpage=about">RECKONER</a></h3><p><strong>Read error corrector.</strong></p><p><span>&bull;&nbsp;&nbsp;Maciej Długosz, M., Deorowicz, S.,&nbsp;</span><em>RECKONER: read error corrector based on KMC</em><span>,&nbsp;</span><a href="https://academic.oup.com/bioinformatics/article-abstract/33/7/1086/2843893/RECKONER-read-error-corrector-based-on-KMC">Bioinformatics,&nbsp;</a><span>2017; 33(7):1086&ndash;1089,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=tgc&amp;subpage=about">TGC</a></h3><p><strong>Compressor of collections of genomes given in Variant Call Format (VCF) files.</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S., Danek, A., Grabowski, Sz.,&nbsp;</span><em>Genome compression: a novel approach for large collections</em><span>,&nbsp;</span><a href="http://bioinformatics.oxfordjournals.org/content/early/2013/08/29/bioinformatics.btt460">Bioinformatics,&nbsp;</a><span>2013; 29(20):2572&ndash;2578,</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=vcfshark&amp;subpage=about">VCFShark</a></h3><p><strong>Compressor of VCF files.</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S., Danek, A.,&nbsp;</span><em>GTShark: Genotype compression in large projects</em><span>,&nbsp;</span><a href="https://www.biorxiv.org/content/10.1101/2020.12.18.423437v1">biorxiv.org,&nbsp;</a><span>2020; ():</span></p><h3><a href="http://sun.aei.polsl.pl/REFRESH/index.php?page=projects&amp;project=whisper&amp;subpage=about">Whisper</a></h3><p><strong>Experimental mapper of whole genome sequencing data.</strong></p><p><span>&bull;&nbsp;&nbsp;Deorowicz, S., Gudys, A.,&nbsp;</span><em>Whisper 2: indel-sensitive short read mapping</em><span>,&nbsp;</span><a href="https://doi.org/10.1101/2019.12.18.881292">bioRxiv.org,&nbsp;</a><span>2019; :</span><br /><span>&bull;&nbsp;&nbsp;Deorowicz, S., Debudaj-Grabysz, A., Gudys, A., Grabowski, Sz.,&nbsp;</span><em>Whisper: read sorting allows robust robust mapping of DNA sequencing data</em><span>,&nbsp;</span><a href="https://doi.org/10.1093/bioinformatics/bty927">Bioinformatics,&nbsp;</a><span>2019; 35(12):2043&ndash;2050,</span><br /><span>&bull;&nbsp;&nbsp;Deorowicz, S., Debudaj-Grabysz, A., Gudys, A., Grabowski, Sz.,&nbsp;</span><em>Robust mapping of whole genome sequencing data</em><span>,&nbsp;</span><a href="https://meetings.cshl.edu/abstracts.aspx?meet=GENOME&amp;year=17">Poster at The Biology of Genomes Conference,&nbsp;</a><span>2017;</span></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43859/mumco-is-a-simple-bash-script-that-uses-whole-genome-alignment-information-provided-by-mummer-v4-to-detect-variants</guid>
	<pubDate>Wed, 27 Apr 2022 04:34:12 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43859/mumco-is-a-simple-bash-script-that-uses-whole-genome-alignment-information-provided-by-mummer-v4-to-detect-variants</link>
	<title><![CDATA[MUM&amp;Co is a simple bash script that uses Whole Genome Alignment information provided by MUMmer (v4) to detect variants.]]></title>
	<description><![CDATA[<p dir="auto">MUM&amp;Co is able to detect:<br>Deletions, insertions, tandem duplications and tandem contractions (&gt;=50bp &amp; &lt;=150kb)<br>Inversions (&gt;=1kb) and translocations (&gt;=10kb)</p><p>Address of the bookmark: <a href="https://github.com/SAMtoBAM/MUMandCo" rel="nofollow">https://github.com/SAMtoBAM/MUMandCo</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44537/the-atcc-genome-portal</guid>
	<pubDate>Wed, 15 May 2024 14:24:16 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44537/the-atcc-genome-portal</link>
	<title><![CDATA[The ATCC Genome Portal]]></title>
	<description><![CDATA[<p><span>The ATCC Genome Portal (AGP,&nbsp;</span><a href="https://genomes.atcc.org/">https://genomes.atcc.org/</a><span>) is a database of authenticated genomes for bacteria, fungi, protists, and viruses held in ATCC&rsquo;s biorepository. It now includes 3,938 assemblies (253% increase) produced under ISO 9000 by ATCC. Here, we present new features and content added to the AGP for the research community.</span></p><p>Address of the bookmark: <a href="https://genomes.atcc.org/" rel="nofollow">https://genomes.atcc.org/</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44489/proksee</guid>
	<pubDate>Wed, 27 Mar 2024 11:11:54 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44489/proksee</link>
	<title><![CDATA[Proksee]]></title>
	<description><![CDATA[<p><span>Proksee is an expert system for genome assembly, annotation and visualization. To begin using Proksee, provide a complete genome sequence, sequencing reads or a CGView/Proksee map JSON file.</span></p>
<fieldset><legend>Please Cite the Following</legend>
<div>Grant JR, Enns E, Marinier E, Mandal A, Herman EK, Chen C, Graham M, Van Domselaar G, and Stothard P</div>
<div><a href="https://pubmed.ncbi.nlm.nih.gov/37140037/">Proksee: in-depth characterization and visualization of bacterial genomes</a></div>
<div>Nucleic Acids Research, 2023, gkad326, https://doi.org/10.1093/nar/gkad326</div>
</fieldset><p>Address of the bookmark: <a href="https://proksee.ca/" rel="nofollow">https://proksee.ca/</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>
<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>
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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>
<li>
<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>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41869/hs3d-homo-sapiens-splice-sites-dataset</guid>
	<pubDate>Fri, 12 Jun 2020 12:33:17 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41869/hs3d-homo-sapiens-splice-sites-dataset</link>
	<title><![CDATA[HS3D: Homo Sapiens Splice Sites Dataset]]></title>
	<description><![CDATA[<p>HS3D (Homo Sapiens Splice Sites Dataset) is a data set of Homo Sapiens Exon, Intron and Splice regions extracted from GenBank Rel.123. The aim of this data set is to give standardized material to train and to assess the prediction accuracy of computational approaches for gene identification and characterization. From the complete GenBank (Primate Sequences Division) Rel.123 (162,557 entries), entries of Human Nuclear DNA including Complete CDS and more than one Exon have been selected, and 4523 exons and 3802 introns have been extracted from these entries. Details about extracted exons and introns are reported (Locus, number, Start and End position in the entry, sequence, length, G+C content, presence of not AGCT data (nucleotide scan check)). Statistics are also reported (overall nucleotides, average G+C content, nucleotide scan check results, number of not GT starting / AG ending introns, minimum /&nbsp; &nbsp;maximum / average length, length standard deviation) . 3799+3799 donor and acceptor sites, as windows of 140 nucleotides around&nbsp; each splice site have been extracted. After discarding sequences not including canonical GT&ndash;AG junctions (65+74),&nbsp; including insufficient data (not enough material for a 140 nucleotide window) (686+589),&nbsp; including not AGCT bases (29+30), and redundant (218+226) there are 2796+ 2880 windows.&nbsp;</p>
<p>1. P.Pollastro, S.Rampone (2002). HS3D, a Dataset of Homo Sapiens Splice Regions, and its Extraction Procedure from a Major Public Database , International Journal of Modern Physics C, 13(8), 1105-1117. (please cite this paper)</p>
<p>2. P.Pollastro, S.Rampone (2003). HS3D: Homo Sapiens Splice Site Data Set , Nucleic Acids Research, 2003 Annual Database Issue.</p><p>Address of the bookmark: <a href="http://www.sci.unisannio.it/docenti/rampone/" rel="nofollow">http://www.sci.unisannio.it/docenti/rampone/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/37049/chromomap-an-r-package-for-interactive-visualization-and-mapping-of-human-chromosomes</guid>
	<pubDate>Mon, 25 Jun 2018 17:22:24 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/37049/chromomap-an-r-package-for-interactive-visualization-and-mapping-of-human-chromosomes</link>
	<title><![CDATA[chromoMap-An R package for Interactive visualization and mapping of human chromosomes]]></title>
	<description><![CDATA[
<p>chromoMap is an R package that provides interactive, configurable and elegant graphics visualization of the human chromosomes allowing users to map chromosome elements (like genes, SNPs etc.) on the chromosome plot. It introduces a special plot viz. the "chromosome heatmap" that, in addition to mapping elements, can visualize the data associated with chromosome elements (like gene expression) in the form of heat colors which can be highly advantageous in the scientific interpretations and research work. Because of the enormous size of the chromosomes, it is impractical to visualize each element on the same plot. But chromoMap plots provide a magnified view for each of chromosome location to render additional information and visualization specific for that location. You can map thousands of genes and can view all mappings easily. Users can investigate the detailed information about the mappings (like gene names or total genes mapped on a location) or can view the magnified single or double stranded view of the chromosome at a location showing each mapped element in sequential order (You will see in the demos below). Not ony that, the plots can be saved as HTML documents that can be customized and shared easily. In addition, you can include them in R Markdown or in R Shiny applications.</p>

<p>https://cran.r-project.org/web/packages/chromoMap/index.html</p>
]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>

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