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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/43980?offset=80</link>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/35752/hejnol-group</guid>
  <pubDate>Thu, 22 Feb 2018 16:02:53 -0600</pubDate>
  <link></link>
  <title><![CDATA[Hejnol Group]]></title>
  <description><![CDATA[
<p>The group studies a broad range of animal taxa using morphological and molecular tools to unravel the evolution and development of animal organ systems.</p>

<p>To understand the evolution of the biodiversity seen on planet earth is one of the major goals in biology. How animals explored new habitats from only being confined to the marine environment and the how the forms diversified is still one of the most tremendous questions to be answered.</p>

<p>http://www.sars.no/research/HejnolGrp.php</p>
]]></description>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/38551/gupta-lab</guid>
  <pubDate>Sat, 29 Dec 2018 13:18:31 -0600</pubDate>
  <link></link>
  <title><![CDATA[Gupta Lab]]></title>
  <description><![CDATA[
<p>Work include (i) understanding the evolutionary relationships among different prokaryotic and eukaryotic organisms; (ii) Understanding the cellular functions of these lineage-specific signature proteins as well as lineage-specific conserved inserts and deletions in important housekeeping proteins by genetic and biochemical studies; (iii) Development of novel diagnostic methods (PCR based and immunological) for identification of different groups of organisms based upon these signature proteins and conserved indels; (iv) The use of these lineage-specific probes with predicitive ability to identify/explore the presence of different groups of organisms in metagenomic sequences from various environments.</p>

<p>https://fhs.mcmaster.ca/gupta-lab/index.html</p>
]]></description>
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<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42794/tmrca-calculator</guid>
	<pubDate>Wed, 03 Feb 2021 05:07:30 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42794/tmrca-calculator</link>
	<title><![CDATA[TMRCA Calculator]]></title>
	<description><![CDATA[<p><span>This program calculates the probability that two people have a certain number of generations between them, based on the standard&nbsp;</span><em>infinite alleles</em><span>&nbsp;formula of Walsh. It calculates both the probability of being at an exact number of generations back to the Most Recent Common Ancestor (MRCA) of a certain pair of people and the cumulative probability that the actual number of generations is less than a certain value. Note that the convention using generations is changed from an earlier version of this calculator which used "transmission events". It can list both result types in a table or graph. In either case the horizontal axis stops at the point where the cumulative probability reaches 95% or 10 generations, whichever is longer, or an absolute max of 50,000. Beyond 90% the calculation becomes inaccurate.</span></p>
<p>https://clandonaldusa.org/index.php/tmrca-calculator</p><p>Address of the bookmark: <a href="https://clandonaldusa.org/index.php/tmrca-calculator" rel="nofollow">https://clandonaldusa.org/index.php/tmrca-calculator</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43806/genomicus-genome-browser-that-enables-users-to-navigate-in-genomes-in-several-dimensions</guid>
	<pubDate>Mon, 28 Feb 2022 23:27:37 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43806/genomicus-genome-browser-that-enables-users-to-navigate-in-genomes-in-several-dimensions</link>
	<title><![CDATA[Genomicus: genome browser that enables users to navigate in genomes in several dimensions]]></title>
	<description><![CDATA[<p>Genomicus is a genome browser that enables users to navigate in genomes in several dimensions: linearly along chromosome axes, transversaly across different species, and chronologicaly along evolutionary time.</p>
<p>Once a query gene has been entered, it is displayed in its genomic context in parallel to the genomic context of all its orthologous and paralogous copies in all the other sequenced metazoan genomes. Moreover, Genomicus stores and displays the predicted ancestral genome structure in all the ancestral species within the phylogenetic range of interest.</p>
<p>All the data on extant species displayed in this browser are from&nbsp;<a href="http://www.ensembl.org/">Ensembl</a>.</p>
<p><br><strong>Summary statistics of Genomicus version 105.01:</strong><span>&nbsp;(view species tree in&nbsp;</span><a href="https://www.genomicus.bio.ens.psl.eu/genomicus-105.01/data/SpeciesTree.pdf">pdf</a><span>&nbsp;or&nbsp;</span><a href="https://www.genomicus.bio.ens.psl.eu/genomicus-105.01/data/SpeciesTree.nwk">newick</a><span>)</span><br><br></p>
<table id="introstats">
<tbody>
<tr><th>Number of extant species</th>
<td>200</td>
</tr>
<tr><th>Number of extant genes</th>
<td>4303993</td>
</tr>
<tr><th>&nbsp;</th></tr>
<tr><th>Number of ancestral species</th>
<td>196</td>
</tr>
<tr><th>Number of ancestral genes</th>
<td>4624213</td>
</tr>
<tr><th>Number of ancestral synteny blocks</th>
<td>83342<br><br></td>
</tr>
</tbody>
</table><p>Address of the bookmark: <a href="https://www.genomicus.bio.ens.psl.eu/genomicus-105.01/cgi-bin/search.pl" rel="nofollow">https://www.genomicus.bio.ens.psl.eu/genomicus-105.01/cgi-bin/search.pl</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
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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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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/24464/guest-faculty-job-vacancies-in-pondicherry-university</guid>
  <pubDate>Tue, 22 Sep 2015 23:50:16 -0500</pubDate>
  <link></link>
  <title><![CDATA[Guest Faculty Job vacancies in Pondicherry University]]></title>
  <description><![CDATA[
<p>Guest Faculty Job vacancies in Pondicherry University<br />Qualification : M.Phil. / M.Tech. / M.Sc. in Computer Science / Master of Computer Applications with a minimum of 55% of marks. Candidates with Ph.D. degree and NET/SLET qualification will be given preference as per UGC norms.</p>

<p>Desirable : Research or teaching experience in Bioinformatics and Computational Biology.<br />Honorarium : Rs. 1,000/- per lecture (subject to a maximum of 25,000/- per month)<br />How to apply</p>

<p>Interested eligible candidates may attend the 'walk-in' interview along with all original certificates and testimonials with a copy of their bio-data. Walk-in-interview will be held on 28.09.2015 (Monday), 03:00 P.M. at the office of the Dean, School of Life Sciences, Science Block — I, Pondicherry University, Puducherry — 605 014. Candidates reporting after 03:00 P.M. will not be entertained.</p>

<p>More at http://www.pondiuni.edu.in/news/walk-interview-guest-faculty-centre-bioinformatics</p>
]]></description>
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