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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/26993?offset=910</link>
	<atom:link href="https://bioinformaticsonline.com/related/26993?offset=910" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44503/entire-human-genome-sequencing</guid>
	<pubDate>Tue, 02 Apr 2024 01:19:29 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44503/entire-human-genome-sequencing</link>
	<title><![CDATA[Entire Human Genome Sequencing !]]></title>
	<description><![CDATA[<p>Cost-effective whole human genome sequencing has revolutionized the landscape of genetic research and personalized medicine by making comprehensive genetic analysis accessible to a wider population. Through advancements in sequencing technologies, such as next-generation sequencing (NGS), costs have significantly decreased, enabling researchers and healthcare providers to analyze an individual's complete genetic makeup with greater efficiency and affordability. This has profound implications for disease diagnosis, prognosis, and treatment, as it allows for the identification of genetic predispositions and the customization of healthcare interventions based on an individual's unique genetic profile. Moreover, as the cost continues to decline, the potential for population-scale genomic studies and large-scale screening programs becomes increasingly feasible, promising to further enhance our understanding of human genetics and improve healthcare outcomes on a global scale.</p><p>Here are few companies:</p><p>https://mynucleus.com/</p><p>https://myome.com/</p><p>https://nebula.org/whole-genome-sequencing-dna-test/</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/22388/perl-one-liner-basics</guid>
	<pubDate>Sun, 24 May 2015 09:28:33 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/22388/perl-one-liner-basics</link>
	<title><![CDATA[Perl One liner basics !!]]></title>
	<description><![CDATA[<p>Perl has a ton of command line switches (see perldoc perlrun), but I'm just going to cover the ones you'll commonly need to debug code. The most important switch is -e, for execute (or maybe "engage" :) ). The -e switch takes a quoted string of Perl code and executes it. For example:<br /><br />$ perl -e 'print "Hello, World!\n"'<br />Hello, World!<br /><br />It's important that you use single-quotes to quote the code for -e. This usually means you can't use single-quotes within the one liner code. If you're using Windows cmd.exe or PowerShell, you must use double-quotes instead.<br /><br />I'm always forgetting what Perl's predefined special variables do, and often test them at the command line with a one liner to see what they contain. For instance do you remember what $^O is?<br /><br />$ perl -e 'print "$^O\n"'<br />linux<br /><br />It's the operating system name. With that cleared up, let's see what else we can do. If you're using a relatively new Perl (5.10.0 or higher) you can use the -E switch instead of -e. This turns on some of Perl's newer features, like say, which prints a string and appends a newline to it. This saves typing and makes the code cleaner:<br /><br />$ perl -E 'say "$^O"'<br />linux<br /><br />Pretty handy! say is a nifty feature that you'll use again and again.</p>]]></description>
	<dc:creator>Abhimanyu Singh</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>
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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/45273/a-subway-map-for-the-genome</guid>
	<pubDate>Fri, 04 Sep 2026 04:14:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45273/a-subway-map-for-the-genome</link>
	<title><![CDATA[A Subway Map for the Genome]]></title>
	<description><![CDATA[<p>Maya was looking at a genome graph on her computer. There were nodes, branches, and paths going in every direction.</p><p>&ldquo;It&rsquo;s like a subway map,&rdquo; she said, &ldquo;but for DNA.&rdquo;</p><p>That idea is exactly what Sequence Tube Map brings to life.</p><p>Instead of showing a genome as one long, confusing sequence, it displays different genomic paths like routes on a metro map. Where sequences are shared, the paths travel together. Where genetic variation occurs, they branch into different routes and may join again later.</p><p>This makes complex genome graphs much easier to explore.</p><p>Maya could now see how different haplotypes moved through the same genomic region and where they took different paths. She could even view sequencing reads mapped onto the graph, helping her understand what was happening in regions with genetic variation.</p><p>What once looked like a tangled network now looked like a journey.</p><p>Sequence Tube Map turns the complexity of graph genomes into a visual story&mdash;making it easier for scientists to see how DNA can take different routes.</p><p>Read more at&nbsp; https://github.com/vgteam/sequencetubemap&nbsp;</p><p>and</p><p>https://academic.oup.com/bioinformatics/article/35/24/5318/5542397</p><p>Demo at&nbsp;https://vgteam.github.io/sequenceTubeMap/</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/22437/jrf-bioinformatics-icar-national-research-centre-for-orchids-pakyong</guid>
  <pubDate>Thu, 28 May 2015 19:33:19 -0500</pubDate>
  <link></link>
  <title><![CDATA[JRF Bioinformatics @ ICAR - National Research Centre for Orchids  Pakyong]]></title>
  <description><![CDATA[
<p>ICAR - National Research Centre for Orchids</p>

<p>Pakyong</p>

<p>F.No:NRCO/Admn/DBT /136 /</p>

<p>Walk-in-Interviews will be held at 737106, Sikkim for the post of 01 (One Project ‘DBT’s Twinning programme for the NE’ titled “Assessment of some fragrant orchids of north-east India for sustainable improvement of community livelihood”, indicated below. The appointment will be on contractual basis and the incumbents shall not have any regular appointment in ICAR.</p>

<p>‘DBT’s Twinning programme for the NE’ titled “Assessment of chemical and genetic divergence of some fragrant orchids of north-east India for sustainable improvement of community livelihood”</p>

<p>Junior Research Fellow (One post)</p>

<p>Essential Qualification : a. MSc (with NET qualification) / M.Tech degree (with or without NET) with minimum 55% marks in Biotechnology/ Bioinformatics/ Molecular Biology or any other related field.</p>

<p>Desirable Qualification: Computer Skills (Linux, Perl, Java, MySQL) with experience in advanced molecular Biology techniques</p>

<p>2nd June 2015</p>

<p>Advertisement: www.nrcorchids.nic.in/Employments/Vacancy%20-%20JRF.pdf</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45306/the-genes-that-travel-together-a-genomic-detective-story</guid>
	<pubDate>Fri, 11 Sep 2026 13:00:36 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45306/the-genes-that-travel-together-a-genomic-detective-story</link>
	<title><![CDATA[The Genes That Travel Together: A Genomic Detective Story]]></title>
	<description><![CDATA[<p>Imagine looking through thousands of microbial genomes and discovering two genes that repeatedly appear together. The obvious conclusion is that they must somehow be connected&mdash;that perhaps they work together, participate in the same pathway, or depend on each other. But evolution has a way of leaving misleading clues. What if these two genes are found together simply because they were inherited from the same ancient ancestor? In that case, their apparent association may have little to do with their biological function; it may simply be a reflection of shared evolutionary history. This is the intriguing problem addressed by CORGIAS (https://github.com/ynishimuraLv/corgias), a computational framework developed to distinguish genuine gene associations from correlations created by common ancestry.</p><p>Instead of asking only whether two genes occur together across genomes, CORGIAS asks a deeper question: did these genes actually evolve together, repeatedly gaining or losing their presence in concert, or are they merely travelling together because of their inherited history? The framework introduces two complementary approaches, Ancestral State Adjustment (ASA) and the Simultaneous EVolution test (SEV), which incorporate evolutionary information into the search for gene associations. This distinction becomes increasingly important as genome sequencing continues to uncover enormous numbers of microbial genomes, many from organisms that have never been cultured and whose genes remain functionally mysterious. In this growing genomic landscape, simply finding a gene is no longer enough&mdash;we need clues about what that gene might be doing. CORGIAS approaches this problem almost like a genomic detective: rather than treating every association as evidence, it reconstructs the evolutionary story behind the association and asks whether the evidence survives that history. By doing so, it offers a way to separate coincidence from biological connection and potentially uncover functional relationships hidden within the vast microbial genomic landscape. The broader message is beautifully simple: genes do not evolve in isolation, and understanding what they do may require us to look beyond where they are today and reconstruct how they arrived there. Sometimes, the most important clue in a genome is not the gene itself, but the evolutionary journey it has taken.</p><p>More at&nbsp;https://academic.oup.com/nargab/article/7/4/lqaf182/8377910?</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/22570/frequent-words-problem-solution-by-perl</guid>
	<pubDate>Tue, 09 Jun 2015 23:38:44 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/22570/frequent-words-problem-solution-by-perl</link>
	<title><![CDATA[Frequent words problem solution by Perl]]></title>
	<description><![CDATA[<div><p>Solved with perl <a href="http://rosalind.info/problems/1a/">http://rosalind.info/problems/1a/</a></p><p>#Find the most frequent k-mers in a string.<br />#Given: A DNA string Text and an integer k.<br />#Return: All most frequent k-mers in Text (in any order).<br /><br />use strict;<br />use warnings;<br /><br />my $string="ACGTTGCATGTCGCATGATGCATGAGAGCT";<br />my $kmer=4; <br />my %myHash;<br />my $max=0;<br /><br />for (my $aa=0; $aa&lt;=(length($string)-4); $aa++) {<br />&nbsp;&nbsp; &nbsp;my $myStr=substr&nbsp; $string, $aa,$kmer;<br />&nbsp;&nbsp; &nbsp;#print "$myStr\n";<br />&nbsp;&nbsp; &nbsp;my $km=kmerMatch ($string, $myStr, $kmer);<br />&nbsp;&nbsp; &nbsp;if ($km &gt; $max) { $max = $km;}<br />&nbsp;&nbsp; &nbsp;#print "$km\t$myStr\n";<br />&nbsp;&nbsp; &nbsp;$myHash{$myStr}=$km;<br />&nbsp;&nbsp; &nbsp;<br />}<br /><br />#Print all key which have matching values<br />foreach my $name (keys %myHash){<br />&nbsp;&nbsp;&nbsp; print "$name " if $myHash{$name} == $max;<br />}<br /><br />sub kmerMatch { #Check the exact matching kmers with sliding window<br />my ($string, $myStr, $kmer)=@_;<br />my $count=0;<br />for (my $aa=0; $aa&lt;=(length($string)-4); $aa++) {<br />&nbsp;&nbsp; &nbsp;my $myWin=substr&nbsp; $string, $aa,$kmer;<br />&nbsp;&nbsp; &nbsp;if ($myWin eq $myStr) {<br />&nbsp;&nbsp; &nbsp;&nbsp;&nbsp; &nbsp;#print "$myWin eq $myStr\n";<br />&nbsp;&nbsp; &nbsp;&nbsp;&nbsp; &nbsp;$count++;<br />&nbsp;&nbsp; &nbsp;}<br />}<br />return $count;<br />}</p></div>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/3868/next-generation-sequencing-ngs-tutorials</guid>
	<pubDate>Sat, 24 Aug 2013 06:01:37 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/3868/next-generation-sequencing-ngs-tutorials</link>
	<title><![CDATA[Next Generation Sequencing (NGS) Tutorials]]></title>
	<description><![CDATA[<p>Institute of computational biomedicine, Cornell University provide an NGS workshop tutorial at&nbsp;<a href="http://chagall.med.cornell.edu/NGScourse/">http://chagall.med.cornell.edu/NGScourse/</a>&nbsp;</p>
<p>You can also add your favourite NGS educational material, or workshop tutorial by commenting on this bookmarks for user benefit.&nbsp;</p>
<p>Understanding the basics of genome sequencing:</p>
<p>Tutorial by Luke Jostins.</p>
<p>http://www.genetic-inference.co.uk/blog/2009/04/basics-sequencing-dna-part-1/</p>
<p>http://www.genetic-inference.co.uk/blog/2009/08/basics-sequencing-dna-part-2/</p>
<p>A window into third-generation sequencing</p>
<p>http://hmg.oxfordjournals.org/content/19/R2/R227.full.pdf</p>
<p>==============================================</p>
<p>NGS data analysis pipelines</p>
<ul>
<li><strong>Detecting and annotating genetic variations using the HugeSeq pipeline</strong>&nbsp; DOI: <a href="http://dx.doi.org/10.1038/nbt.2134">10.1038/nbt.2134</a></li>
<li><strong> NARWHAL, a primary analysis pipeline for NGS data</strong> <a href="http://bioinformatics.oxfordjournals.org/cgi/content/abstract/28/2/284?etoc">http://bioinformatics.oxfordjournals.org/cgi/content/abstract/28/2/284?etoc</a></li>
<li><strong>RseqFlow: Workflows for RNA-Seq data analysis</strong>&nbsp; DOI: <a href="http://dx.doi.org/10.1093/bioinformatics/btr441">10.1093/bioinformatics/btr441</a></li>
<li><strong>ngs_backbone: a pipeline for read cleaning, mapping and SNP calling using Next Generation Sequence</strong>&nbsp;&nbsp;<a href="http://dx.doi.org/10.1186/1471-2164-12-285">10.1186/1471-2164-12-285</a></li>
<li><strong>A framework for variation discovery and genotyping using next-generation DNA sequencing data</strong>&nbsp; PubMed: <a href="http://www.ncbi.nlm.nih.gov/pubmed/21478889">21478889</a></li>
<li><strong>SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects</strong>&nbsp; DOI: <a href="http://dx.doi.org/10.1186/1471-2105-12-134">10.1186/1471-2105-12-134</a> Abstract: <a href="http://www.biomedcentral.com/1471-2105/12/134/abstract">http://www.biomedcentral.com/1471-2105/12/134/abstract</a></li>
<li><strong>WEP: a high-performance analysis pipeline for whole-exome data&nbsp;</strong>http://www.biomedcentral.com/1471-2105/14/S7/S11</li>
<li><strong>DDBJ read annotation pipeline: a cloud computing-based pipeline for high-throughput analysis of next-generation sequencing data.&nbsp;</strong>http://www.ncbi.nlm.nih.gov/pubmed/23657089</li>
<li><strong>GATK: a Toolkit for Genome Analysis&nbsp;</strong>http://www.broadinstitute.org/gatk/</li>
<li><strong>Metagenomics</strong>:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsmetagenomics/</li>
<li><strong>RNASeq</strong>:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsrnaseq/</li>
<li><strong>Bioinformatics and Seq courses</strong>:&nbsp;http://www.isb-sib.ch/training/training-activities-schedule/archive-2013.html</li>
<li><strong>Variant Detection (Model organism) Advanced tutorial</strong> https://docs.google.com/document/pub?id=1CuKkKylVDb03tnN7RSWl5EUzleetn0ctjmvaidPKLxM</li>
<li><strong>Variant Detection Introductory tutorial</strong> https://docs.google.com/document/pub?id=1ZRzrjjOCvtAu3m-IKL-rbJ1f4On60dDL_IEwG7oejdI</li>
<li><strong>Microbial de novo Assembly for Illumina Data Introductory tutorial</strong> https://docs.google.com/document/pub?id=1N3AB9ptISUu4zULqe1kXpVF0BDyGb5f5yzxWSJd_WNM</li>
<li><strong>RNAseq Differential Gene Expression Introductory tutorial</strong> https://docs.google.com/document/pub?id=1KbTiBHtvHLfPRZ39AY3uriazrINA8TJzgjjwn1zPP7Y</li>
</ul>
<blockquote>
<p>" Please add your favourite NGS link below in comment section for the benefit of bioinformatics community ".&nbsp;</p>
</blockquote><p>Address of the bookmark: <a href="http://chagall.med.cornell.edu/NGScourse/" rel="nofollow">http://chagall.med.cornell.edu/NGScourse/</a></p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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