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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/31345?offset=530</link>
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	<description><![CDATA[]]></description>
	
	
<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/6561/mathomics-lab</guid>
  <pubDate>Tue, 19 Nov 2013 18:17:32 -0600</pubDate>
  <link></link>
  <title><![CDATA[MATHomics Lab]]></title>
  <description><![CDATA[
<p>Mathomics is a collaborative research group of the Center for Mathematical Modeling and the Center for Genome Regulation at University of Chile, created to play a central role in the development of biotechnological projects, providing state of the art bioinformatics and mathematical modeling tools,  allowing to face these problems from the point of view of Systems Biology. </p>

<p>Lab page @ http://www.mathomics.cl/</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43846/the-complete-sequence-of-a-human-genome</guid>
	<pubDate>Thu, 31 Mar 2022 23:58:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43846/the-complete-sequence-of-a-human-genome</link>
	<title><![CDATA[The complete sequence of a human genome]]></title>
	<description><![CDATA[<p><span>The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.</span></p><p>Address of the bookmark: <a href="https://www.science.org/doi/10.1126/science.abj6987" rel="nofollow">https://www.science.org/doi/10.1126/science.abj6987</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/6817/research-assistant-university-of-hyderabad</guid>
  <pubDate>Mon, 25 Nov 2013 10:21:26 -0600</pubDate>
  <link></link>
  <title><![CDATA[Research Assistant @ University of Hyderabad]]></title>
  <description><![CDATA[
<p>University of Hyderabad<br />Repository for Tomato Genomic Resources<br />Department of Plant Sciences<br />Bioinformatics Position in Tomato Functional Genomics </p>

<p>At the Repository for Tomato Genomics Resources, we are working on Tomato Functional Genomics, using TILLING, Insertional Mutagenesis, proteomics, metabolomics approaches to study fruit ripening in tomato. The current aims of the group include using reverse and forward genetics strategies to isolate tomato mutants delayed in ripening, having high lycopene and folate content in tomato fruits and analysis of light and hormonal signal transduction pathways. For recent publications of the group see (Plant Physiol 161: 2085–2101, Plant Physiol 156: 1424-1438; Molecular Plant 3: 854-869; Plant Methods 6: 3; Plant Methods 5:18; Plant Signaling and Behavior 5:11.).</p>

<p>Currently we have one position available in the projects awarded to Prof. R.P. Sharma funded by Dept of Biotechnology. The qualification for this Position is as follows:</p>

<p>Research Assistant: Applicants should have experience in networking using R language and should be able to develop networks using the transcriptome, proteome and metabolite data sets. M.Tech. in Bioinformatics is required. The selected candidate would be paid Rs. 13,000/-pm- consolidated.</p>

<p>Candidates interested in above positions should send a one page statement clearly explaining how their skills are relevant to the position. The candidates should also enclose detailed CV and the name/email id for three referees. The candidates can send their application by email at rameshwar.sharma@uohyd.ac.in and y.sreelakshmi@uohyd.ac.in on or before December 10th, 2013. The position is purely temporary in nature. Shortlisted candidates would be called for interview. No TA/DA would be provided for attending the interview. We also have openings for CSIR-NET JRF candidates for pursuing PhD in above research areas.</p>

<p>Interested candidates with CSIR-NET JRF can send their CV to the above email<br />addresses.</p>

<p>Advertisement:</p>

<p>http://www.uohyd.ac.in/images/recruitment/tomanet_positions_221113.pdf</p>
]]></description>
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<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44311/jbrowse-2-a-modular-genome-browser-with-views-of-synteny-and-structural-variation</guid>
	<pubDate>Tue, 25 Apr 2023 20:58:52 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44311/jbrowse-2-a-modular-genome-browser-with-views-of-synteny-and-structural-variation</link>
	<title><![CDATA[JBrowse 2: a modular genome browser with views of synteny and structural variation]]></title>
	<description><![CDATA[<ul dir="auto">
<li>igvjs - a create-react-app with igv package from npm installed. the igv.js is instrumented to output "DONE" to the console when finished, and to have an increased fetchSizeLimit (which is otherwise git in CRAM longread tests)</li>
<li>jb2-web - stock instance of jbrowse-web v1.7.5</li>
<li>jb1 - stock instance of jbrowse 1 v1.16.11</li>
<li>jb2 embedded - a create-react-app with @jbrowse/react-linear-genome-view</li>
</ul><p>Address of the bookmark: <a href="https://github.com/GMOD/jb2profile" rel="nofollow">https://github.com/GMOD/jb2profile</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/7816/boku-lab</guid>
  <pubDate>Wed, 08 Jan 2014 19:33:12 -0600</pubDate>
  <link></link>
  <title><![CDATA[BOKU Lab]]></title>
  <description><![CDATA[
<p>We are interested in the study of complex systems in living organisms. Novel views augmenting the classical gene by gene approaches are required to overcome the engineered redundancies and combinatorial effects prevalent in higher eukaryotes. We therefore combine work to establish improved quantitative experimental assays, such as microarrays or differential in-gel electrophoresis, and development of modern computational methods, such as hierarchical probabilistic models or integration of heterogeneous data sources, focussed by biological studies in our laboratory and collaborations.</p>

<p>Highlights of our research include:</p>

<p>    Optimization of microarray design, probe signal interpretation <br />    Advanced models and tools for expression profiling<br />    State-of-the-art applications and integrated analyses </p>

<p>Lab page @ http://bioinf.boku.ac.at/</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44783/when-chromosomes-shift-understanding-chromosome-rearrangement-and-human-disease</guid>
	<pubDate>Fri, 11 Apr 2025 01:07:17 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44783/when-chromosomes-shift-understanding-chromosome-rearrangement-and-human-disease</link>
	<title><![CDATA[When Chromosomes Shift: Understanding Chromosome Rearrangement and Human Disease]]></title>
	<description><![CDATA[<p>In the vast and complex world of genetics, our chromosomes are like carefully arranged bookshelves &mdash; each holding critical information that defines who we are. But what happens when those books are shuffled, inverted, or swapped? The answer lies in a phenomenon known as <strong>chromosome rearrangement</strong>, a powerful force behind many human diseases, from developmental disorders to cancer.</p><h2>What Are Chromosome Rearrangements?</h2><p><strong>Chromosome rearrangements</strong> are structural changes that alter the normal configuration of chromosomes. These changes can involve large segments of DNA &mdash; from thousands to millions of base pairs &mdash; and can occur <strong>spontaneously</strong>, be <strong>inherited</strong>, or result from <strong>exposure to mutagens</strong> (like radiation or chemicals).</p><h3>Common Types of Rearrangements:</h3><ol>
<li>
<p><strong>Deletions</strong> &ndash; Loss of a chromosome segment</p>
</li>
<li>
<p><strong>Duplications</strong> &ndash; Repetition of a segment</p>
</li>
<li>
<p><strong>Inversions</strong> &ndash; A segment breaks off, flips, and reattaches</p>
</li>
<li>
<p><strong>Translocations</strong> &ndash; Segments exchange places between non-homologous chromosomes</p>
</li>
<li>
<p><strong>Insertions</strong> &ndash; A segment is inserted into another part of the genome</p>
</li>
</ol><p>These changes can disrupt genes directly or affect gene regulation, leading to disease.</p><h2>How Do Chromosome Rearrangements Cause Disease?</h2><p>The impact of a rearrangement depends on <strong>which genes are involved</strong>, <strong>how much DNA is affected</strong>, and <strong>when the rearrangement occurs</strong> (in development vs. adulthood). Here are some key mechanisms:</p><ul>
<li>
<p><strong>Gene disruption</strong>: Breaking a gene can lead to loss of function or the creation of a non-functional protein.</p>
</li>
<li>
<p><strong>Gene fusion</strong>: Joining parts of two genes may form a novel hybrid gene with new functions (common in cancer).</p>
</li>
<li>
<p><strong>Dosage effects</strong>: Extra or missing gene copies can disturb the balance of gene expression.</p>
</li>
<li>
<p><strong>Position effects</strong>: Moving a gene to a new regulatory environment may silence or over-activate it.</p>
</li>
</ul><h2>Chromosome Rearrangements in Human Disease</h2><h3>1. <strong>Developmental Disorders</strong></h3><ul>
<li>
<p><strong>Cri-du-chat syndrome</strong>: Caused by a deletion on chromosome 5p. Affected infants often have a high-pitched cry and intellectual disability.</p>
</li>
<li>
<p><strong>Williams syndrome</strong>: Results from a microdeletion on chromosome 7q, affecting genes related to cardiovascular and cognitive function.</p>
</li>
</ul><h3>2. <strong>Cancer</strong></h3><p>Cancer is perhaps the most striking example of disease caused by chromosome rearrangements.</p><ul>
<li>
<p><strong>Chronic Myeloid Leukemia (CML)</strong>: Caused by a translocation between chromosomes 9 and 22, forming the <em>Philadelphia chromosome</em>. This creates the <strong>BCR-ABL fusion gene</strong>, which drives uncontrolled cell growth.</p>
</li>
<li>
<p><strong>Burkitt lymphoma</strong>: Involves translocation of the <strong>MYC</strong> gene, leading to excessive cell division.</p>
</li>
<li>
<p><strong>Ewing sarcoma</strong>: A fusion of EWSR1 and FLI1 genes through translocation promotes tumor development.</p>
</li>
</ul><h3>3. <strong>Infertility and Miscarriages</strong></h3><p>Balanced rearrangements (like inversions or translocations) in carriers may not cause disease directly but can result in:</p><ul>
<li>
<p><strong>Recurrent miscarriages</strong></p>
</li>
<li>
<p><strong>Infertility</strong></p>
</li>
<li>
<p><strong>Birth defects in offspring</strong></p>
</li>
</ul><h2>Detecting Rearrangements</h2><p>Thanks to modern genomics, chromosome rearrangements can now be detected with high precision using:</p><ul>
<li>
<p><strong>Karyotyping</strong> &ndash; Classic method for detecting large rearrangements</p>
</li>
<li>
<p><strong>FISH (Fluorescence In Situ Hybridization)</strong> &ndash; Uses fluorescent probes to target specific DNA sequences</p>
</li>
<li>
<p><strong>Array CGH (Comparative Genomic Hybridization)</strong> &ndash; Detects copy number changes across the genome</p>
</li>
<li>
<p><strong>Whole Genome Sequencing (WGS)</strong> &ndash; Identifies even small or complex rearrangements at base-pair resolution</p>
</li>
</ul><h2>Looking Forward: The Future of Chromosome Medicine</h2><p>Understanding chromosome rearrangements is now central to:</p><ul>
<li>
<p><strong>Personalized medicine</strong></p>
</li>
<li>
<p><strong>Genetic counseling</strong></p>
</li>
<li>
<p><strong>Targeted therapies</strong>, especially in cancer (e.g., tyrosine kinase inhibitors for BCR-ABL fusion)</p>
</li>
</ul><p>With the rise of long-read sequencing and single-cell genomics, even previously &ldquo;invisible&rdquo; rearrangements are being uncovered, offering new insights into both rare diseases and common conditions.</p><h2>Final Thoughts</h2><p>Chromosome rearrangements remind us that genetics isn't just about which genes we have &mdash; but where they are, how they're arranged, and when they're active. As our tools grow sharper, so does our ability to diagnose, understand, and treat diseases rooted in genomic architecture.</p><p>In a way, the genome is like a book not just defined by its words, but also by how the chapters are ordered. Rearranging them can create a new story &mdash; sometimes harmful, sometimes insightful &mdash; and understanding these changes is key to writing a healthier future.</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/7213/postdoctoral-position-bioinformaticscomputational-biology</guid>
  <pubDate>Thu, 12 Dec 2013 17:58:00 -0600</pubDate>
  <link></link>
  <title><![CDATA[Postdoctoral Position (Bioinformatics/Computational Biology)]]></title>
  <description><![CDATA[
<p>University College Cork<br />LAPTI<br />Cork-Co Cork-Ireland</p>

<p>Postdoctoral position is available for three years to work on development of Bioinformatics resources for the analysis and visualization of ribosome profiling data. Ribosome profiling (ribo-seq) is a technology that allows mapping positions of the ribosomes on the whole transcriptome level with a nucleotide precision. The technology allows obtaining high resolution digital snapshots of gene expression in cells. The position is available starting on the 1st of October, 2013.</p>

<p>Candidate is expected to have Ph.D. in Bioinformatics or Computational Biology. Candidates with the degree in non-Biological disciplines such as Computer Science, Statistics, Applied Mathematics, Physics or Electrical Engineering will also be considered.</p>

<p>The position is available at LAPTI (http://lapti.ucc.ie) that is located in the Western Gate Building (http://www.stwarchitects.com/project-information.php?c=1&amp;p=09993) at University College Cork. Western Gate Building Research Complex hosts several UCC departments and provides ideal environment for interdisciplinary research. Cork (sometimes referenced as “Venice of Ireland”) is the second most populous city in the Republic. It has friendly cosmopolitan atmosphere and vibrant culture. A number of American industrial giants such as Apple , EMC and Pfizer have chosen Cork as a home for their European headquarters.</p>

<p>The details of the application process are given at http://lapti.ucc.ie/jobs.html. To ensure prompt processing of your application use the subject line: ‘Postdoc computational’. All applications received prior to August the 1st are guaranteed equal consideration. However, applications at the later dates will also be considered until the position is filled.</p>

<p>For more info visit http://lapti.ucc.ie</p>
]]></description>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/42958/claus-peter-stelzer-lab</guid>
  <pubDate>Mon, 15 Mar 2021 15:24:41 -0500</pubDate>
  <link></link>
  <title><![CDATA[Claus-Peter Stelzer Lab]]></title>
  <description><![CDATA[
<p>Interested in various topics at the intersection of ecology and evolution. In my research I use rotifers as model organisms for experimental studies at the individual and population level. Rotifers are ideally suited for this, because populations of thousands can be kept in small containers in the lab, while single individuals can still be handled conveniently. </p>

<p>More at https://www.uibk.ac.at/limno/personnel/stelzer/index.html.en#research</p>
]]></description>
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<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/7288/critical-to-discoveries-in-bioinformatics</guid>
	<pubDate>Mon, 16 Dec 2013 17:13:24 -0600</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/7288/critical-to-discoveries-in-bioinformatics</link>
	<title><![CDATA[Critical to discoveries in bioinformatics]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/MnKvMP8CeSQ" frameborder="0" allowfullscreen></iframe>EMBL-EBI distributes datasets worldwide using the Janet network. This biological data enables the discovery of new drugs, new diagnostics and increasingly new agro-chemicals.  Their work, which includes the 1000-genome project, has generated petabytes of data and this growth is showing no signs of abating.  On-demand bandwidth over Janet will therefore be critical to their ongoing work.]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/6700/tedmed-great-challenges-genomics-and-medicine-where-promise-meets-clinical-practice</guid>
	<pubDate>Fri, 22 Nov 2013 12:05:32 -0600</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/6700/tedmed-great-challenges-genomics-and-medicine-where-promise-meets-clinical-practice</link>
	<title><![CDATA[TEDMED Great Challenges: Genomics and Medicine: Where promise meets clinical practice]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/-VdRMFuB5vo" frameborder="0" allowfullscreen></iframe>November 21, 2013 - NHGRI Director Eric Green, M.D., Ph.D, hosted the TEDMED Google+ Hangout to discuss genomic medicine with an all-star cast that includes Carlos Bustamante, James Evans, Amy McGuire and Sharon Terry.

More: http://www.tedmed.com/greatchallenges]]></description>
	
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