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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/32719?offset=1310</link>
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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/opportunity/view/10262/research-fellow-phd-candidate-in-computational-biology-%E2%80%93-2-positions</guid>
  <pubDate>Fri, 25 Apr 2014 20:19:58 -0500</pubDate>
  <link></link>
  <title><![CDATA[Research fellow (PhD candidate) in computational biology – 2 positions]]></title>
  <description><![CDATA[
<p>At the Department of Informatics two 4-year positions as research fellow are available in the field of computational biology connected to the Computational Biology Unit. The positions are linked to the project “Integrated genomics - linking transcriptional and translational regulation over developmental time” supported by the Bergen Research Foundation</p>

<p>The fate of a cell is ultimately the product of the regulation of its genes. Gene regulation is a coordinated process acting at multiple levels of which transcription and translation are the most prominent. The Valen group is dedicated to the fundamental question of how transcription and translation is integrated to obtain the desired protein abundance. The recent development of high-throughput next generation sequencing techniques to monitor both active translation and transcription has made it possible to study this connection at the genome scale.</p>

<p>This project aims to elucidate the links between regulation of translation and transcription. The applicant will analyze next generation sequencing data and model gene regulation on a genome-wide level to identify the features that affect the translational output of transcripts. The work will be done in close collaboration with experimental scientists who will test the predictions of the computational models.</p>

<p>Additional information on the position can be obtained by contacting Eivind Valen (eivind.valen@ii.uib.no).</p>

<p>The research fellow must take part in the University’s approved PhD program leading to the degree within a time limit of 3 years. Application for admission to the PhD program, including a project plan outline for the training module, will be worked out in collaboration with the research group in question.</p>

<p>In total, the fellowship period is 4 years, 25 % of this will be allocated to teaching and/or administrative duties. The fellowship period may be reduced if the successful applicant has held previous employment as a research fellow or similar.</p>

<p>http://www.jobbnorge.no/en/available-jobs/job/102235/research-fellow-phd-candidate-in-computational-biology-2-positions</p>
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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/bookmarks/view/10415/bioinformatician-stuck-in-wet-lab</guid>
	<pubDate>Tue, 06 May 2014 12:46:56 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/10415/bioinformatician-stuck-in-wet-lab</link>
	<title><![CDATA[Bioinformatician stuck in wet-lab]]></title>
	<description><![CDATA[<p>This guide is aimed at pet bioinformaticians, and is meant to guide them towards better career development.</p>
<p><strong>1. Make friends with local bioinformatics groups</strong><br> <strong>2. Talk to your computing group</strong><br> <strong>3. Obtain clear expectations</strong><br> <strong>4. Rewrite your job description</strong><br> <strong>5. Papers</strong><br> <strong>6. Attend bioinformatics meetings</strong><br> <strong>7. Try first, ask later</strong></p><p>Address of the bookmark: <a href="http://biomickwatson.wordpress.com/2013/04/23/a-guide-for-the-lonely-bioinformatician/" rel="nofollow">http://biomickwatson.wordpress.com/2013/04/23/a-guide-for-the-lonely-bioinformatician/</a></p>]]></description>
	<dc:creator>Rahul Agarwal</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45358/the-variant-everyone-ignored</guid>
	<pubDate>Mon, 05 Oct 2026 12:14:20 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45358/the-variant-everyone-ignored</link>
	<title><![CDATA[The Variant Everyone Ignored]]></title>
	<description><![CDATA[<p>Consider a scenario in which a patient's genome has been sequenced. Among billions of DNA bases, a structural alteration may explain the patient's disease. Multiple advanced algorithms analyze the data, yet only one detects the variant, while the others do not. In standard bioinformatics workflows, such a solitary result is often regarded as unreliable and subsequently discarded. Although the solution exists within the data, prevailing computational protocols may overlook it.</p><p>A recent study published in Genome Biology (https://link.springer.com/article/10.1186/s13059-026-04280-y) addressed this challenge by introducing dicast (https://github.com/burgshrimps/dicast), a machine-learning approach for detecting structural variants in short-read sequencing data. Structural variants, such as large deletions, insertions, duplications, and inversions, can have significant biological and clinical implications, yet they are challenging to identify with short-read technologies. Because different detection methods frequently yield divergent results, researchers commonly employ consensus calling, considering a variant valid only if multiple tools detect it. While this approach reduces false positives, it relies on the potentially flawed assumption that the majority is always correct.</p><p>The researchers explored the impact of evaluating the supporting evidence for each variant, rather than simply tallying the number of algorithms that identified it. To establish a ground truth, they analyzed nine genomes using multiple sequencing technologies and 15 detection methods, initially identifying approximately 35 million potential variants. Through extensive filtering, evidence integration, and manual review of over 11,500 variants, they developed a robust benchmark comprising more than 236,000 structural variants. The findings underscored the complexity of the problem: short-read methods detected fewer than half of deletions and less than 10 percent of insertions, with performance declining markedly in repetitive genomic regions. In contrast, long-read technologies demonstrated superior detection capabilities. However, replacing the substantial volume of existing short-read data in clinical and research settings is not immediately feasible. Consequently, the researchers questioned whether short-read data might harbor more information than conventional analytical pipelines currently extract.</p><p>This line of inquiry led to the development of dicast. Rather than merely confirming agreement among multiple tools, dicast identifies patterns in sequencing data, including split and clipped reads, discordant read pairs, alignment characteristics, and the surrounding genomic context. An XGBoost machine-learning model evaluates which combinations of these signals are indicative of genuine structural variants. Thus, the approach shifts from tallying algorithmic consensus to interpreting the underlying evidence.</p><p>The researchers subsequently conducted a targeted evaluation by examining structural variants detected by only a single short-read tool, which are typically missed by consensus-based approaches. dicast successfully recovered approximately 81% of these single-caller deletions, insertions, and duplications. The signals for these variants were present in the data, but conventional filtering methods failed to integrate them effectively.</p><p>The utility of dicast was further demonstrated in cohorts with rare diseases, including congenital limb malformations, atrial fibrillation, and neuromuscular disorders. In one instance, dicast achieved a deletion recall rate of approximately 0.96, compared to 0.74 using consensus calling. The median number of variants requiring manual review was 29 per sample. Among 31 experimentally validated variants that standard filters would have missed, dicast identified 12, whereas consensus calling detected only one.</p><p>Overall, dicast identified approximately 20 percent more potential disease-causing deletions than consensus-based methods. While a 20 percent increase may appear modest, in clinical genomics such improvements can have significant practical implications. Missing a deletion may leave a case unresolved, whereas detecting a structural variant can provide critical diagnostic insights.</p><p>The study does not claim that machine learning has rendered short-read sequencing superior to long-read approaches. Instead, the results underscore the effectiveness of long-read sequencing for structural variant detection. However, dicast highlights a more nuanced perspective: substantial biological information may still be recoverable from the extensive short-read datasets already available.</p><p>The principal lesson extends beyond the detection of structural variants. For many years, bioinformatics pipelines have relied on threshold-based criteria, such as minimum coverage, quality scores, or support from multiple tools. While these rules are useful, biological phenomena do not always conform to rigid checklists; multiple weak signals, when considered collectively, can provide compelling evidence.</p><p>This perspective prompts consideration of the solitary variant: one algorithm identifies it, while several others do not. Traditional consensus techniques might have dismissed it, yet machine learning approaches evaluate the available evidence to determine whether the variant is plausible.</p><p>Occasionally, the most significant variant within a genome is the one that is almost universally overlooked.</p><p>Read more at&nbsp;https://link.springer.com/article/10.1186/s13059-026-04280-y</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/10881/special-project-scientist-%E2%80%93-sorghum-genomics</guid>
  <pubDate>Tue, 20 May 2014 00:34:39 -0500</pubDate>
  <link></link>
  <title><![CDATA[Special Project Scientist – Sorghum Genomics]]></title>
  <description><![CDATA[
<p>ICRISAT is seeking applications from Indian Nationals for a Special Project Scientist to work on a sorghum genomics activities related to sequencing/re-sequencing projects utilizing New Generation Sequencing platforms.</p>

<p>The Job detail</p>

<p>    Advancing the SNP-discovery and polymorphism assessment work across several germplasm panels representing global genetic diversity<br />    Population genetic and genomic analyses, testing the hypothesis related to adaptation in multiple geographic regions<br />    Develop SNP assays from large scale GBS and other re-sequencing data for several target traits utilizing available phenotyping data<br />    Combined analyses of genotypic and phenotypic data for discovery of marker-trait associations, and conducting GWAS<br />    Processing, analyzing, and archiving large-scale genomic data sets, assessing data quality, conducting analyses, interpreting findings, and communicating findings to others including preparation of reports, presentations, posters and journal articles<br />    Providing support to MSc and PhD students on topic related to its major core of research<br />    Any other work assigned by the supervisor</p>

<p>The Person:</p>

<p>    PhD in bioinformatics, genetics, computational biology preferably with 1 to 2 years of experience;<br />    familiar with standard bioinformatics tools and scripting languages and emerging and evolving software platforms relevant to bioinformatics and computational biology;<br />    ability to create new analytical pipelines; experience with handling large data sets;<br />    ability to program in at least two of the following: C++, PERL, Python, R, Java.<br />    will use next-generation sequencing technologies to generate marker data for genetic mapping and transcriptome data for expression QTL mapping, and will be responsible for data generation as well as data analysis.</p>

<p>Period and Remuneration: The assignment is for a period of two years, and can be extended for another year depending on performance. ICRISAT pays a very attractive all inclusive lump sum assignment fee payable in Indian Rupees.</p>

<p>How to Apply: Please send your application by email to icrisatjobs@cgiar.org, stating the job title (Special project Scientist-Sorghum Genomics) clearly in the subject column, addressed to the Director, Human Resources and Operations, ICRISAT, Patancheru, Andhra Pradesh 502 324, India, latest by 10 June 2014. The application should include an up-to-date Curriculum Vitae, a short statement of competencies and experience for the position, and the names and addresses (including phone/e-mail) of three referees. Only short-listed candidates will be contacted.</p>

<p>More at: http://www.icrisat.org/careers/Special-Project-Scientist-Sorghum-Genomics.htm</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/5887/pubmed-opens-for-comment</guid>
	<pubDate>Thu, 24 Oct 2013 12:40:17 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/5887/pubmed-opens-for-comment</link>
	<title><![CDATA[PubMed opens for comment]]></title>
	<description><![CDATA[<p>The informal conversations that researchers have at scientific meetings look set to move online, if a new initiative by the US National Center for Biotechnology Information (NCBI) has its way. On 22 October, the NCBI of Bethesda, Maryland, launched the pilot phase of a programme called PubMed Commons. This will allow users to comment on published abstracts on the PubMed website, which indexes some 22 million papers.<br /><br />For now, only a select group of researchers and their invited guests can use the system. But the NCBI's director David Lipman, who helped to develop the programme, says that soon any PubMed author will be allowed to comment under his or her real name and anyone will be able to read the comments.</p><p>More @ <a href="http://www.nature.com/news/pubmed-opens-for-comment-1.14023">http://www.nature.com/news/pubmed-opens-for-comment-1.14023</a></p><p>News source Nature.</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/10739/science-for-life-laboratory-scilifelab-sweden</guid>
  <pubDate>Sat, 10 May 2014 06:22:30 -0500</pubDate>
  <link></link>
  <title><![CDATA[Science for Life Laboratory (SciLifeLab)-Sweden]]></title>
  <description><![CDATA[
<p>Science for Life Laboratory (SciLifeLab) is a national center for molecular biosciences with focus on health and environmental research. The center combines frontline technical expertise with advanced knowledge of translational medicine and molecular bioscience. SciLifeLab is a national resource and a collaboration between four universities: Karolinska Institutet, KTH Royal Institute of Technology, Stockholm University and Uppsala University.</p>

<p>Webpage : https://www.scilifelab.se/about-us/<br />Opportunity: https://www.scilifelab.se/about-us/career/</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/16686/sequence-viewer-download-transcripts-exons-and-proteins</guid>
	<pubDate>Mon, 15 Sep 2014 17:30:36 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/16686/sequence-viewer-download-transcripts-exons-and-proteins</link>
	<title><![CDATA[Sequence Viewer: Download Transcripts, Exons and Proteins]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/ZWnLyYKozaI" frameborder="0" allowfullscreen></iframe>How to download FASTA sequence for certain gene features while in the NCBI's Sequence Viewer.

Sequence Viewer homepage:
www.ncbi.nlm.nih.gov/projects/sviewer/

Sequence Viewer playlist:
https://www.youtube.com/playlist?list=PL76D7EE6A6A8AC1C3]]></description>
	
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/10841/ra-at-iisr-kozhikode</guid>
  <pubDate>Thu, 15 May 2014 10:08:09 -0500</pubDate>
  <link></link>
  <title><![CDATA[RA at IISR Kozhikode]]></title>
  <description><![CDATA[
<p>INDIAN INSTITUTE OF SPICES RESEARCH<br />(Indian Council of Agricultural Research)<br />Marikunnu P.O., Kozhikode – 673 012, Kerala</p>

<p>Walk- in- Test cum Interview (based on test) for the selection of Research Associate</p>

<p>under the scheme “Distributed Information Sub Centre –DISC” &amp; Research Assistant under scheme “Phytophthora, Fusarium and Ralstonia diseases of Horticultural and Field Crops” will be held at this Institute as per details indicated below.</p>

<p>WALK -IN- TEST CUM INTERVIEW</p>

<p>Name of the post : Research Associate</p>

<p>Date of Interview : 21-05-2014 at 10.00 AM</p>

<p>No. of posts : One</p>

<p>Qualifications : a)Essential</p>

<p>Ph.D Degree in Bioinformatics OR :  Masters degree in Bioinformatics with a minimum of<br />60% marks or equivalent OGPA with at least two years research experience as evidenced from fellowship/ associateship/training/published papers etc.</p>

<p>b)Desirable: Experience in NGS data analysis.</p>

<p>Emoluments : Rs. 23,000/- per month + HRA (Masters Degree Holders)</p>

<p>Rs. 24,000/- per month + HRA (Ph.D Degree Holders)</p>

<p>Upper age limit : 40 years for Men &amp; 45 years for Women as on date of Interview (Upper Age limits are relaxable for SC, ST and OBC candidates as per Govt. of India norms (at present 5 years for SC/ST and 3 years for OBC)</p>

<p>Duration of Project : Till 31-03-2017.</p>

<p>Title of Assigment : Research Assistant (on contract basis)</p>

<p>No. of vacancy : One</p>

<p>Qualification : Essential : Post Graduation in Bioinformatics and  Minimum one year experience in NGS data analysis</p>

<p>Desirable : Experience in Perl/Python/R</p>

<p>Remuneration : Rs. 20,000/- per month (consolidated)</p>

<p>Scope of work :</p>

<p>1. Analysis of different file formats and their conversions.</p>

<p>2. Assessing the quality of data and filtering of raw reads.<br />3. Assembling the raw reads-de novo as well as reference  mapping.<br />4. Compression of aligned reads using Jam tools<br />5. RNA-seq. Analysis<br />6. Differential expression testing involving Normalization,  Statistical testing, heat map generation &amp; hierarchical  clustering<br />7. Annotating the assembled genome and geneet testing  and their validation<br />8. Metabolic pathway analysis<br />9. Comparative genomics<br />10. Setting up of genome browsers.</p>

<p>Period of Assigment : Initially for six months.</p>

<p>Date &amp; Venue of Interview : 21-05-2014 at IISR, Kozhikode at 10.00 AM</p>

<p>More at http://www.spices.res.in/pdf/disc-advtmnt.pdf</p>
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