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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/19555?offset=150</link>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/2054/postdoc-positions-mammalian-transcriptome-evolution-at-sib</guid>
  <pubDate>Mon, 12 Aug 2013 19:58:33 -0500</pubDate>
  <link></link>
  <title><![CDATA[Postdoc Positions - Mammalian Transcriptome Evolution at SIB]]></title>
  <description><![CDATA[
<p>BIOINFORMATICS POSTDOC IN FUNCTIONAL EVOLUTIONARY GENOMICS</p>

<p>Center for Integrative Genomics, University of Lausanne, Switzerland</p>

<p>Two postdoctoral positions (2 years with possible extensions up to 5 years) are available immediately in the evolutionary genomics group of Henrik Kaessmann.</p>

<p>We are seeking highly qualified and enthusiastic applicants with strong skills in computational biology/bioinformatics, preferably also with experience in data mining and comparative or evolutionary genome analysis.</p>

<p>We have been interested in a range of topics related to the functional evolution of genomes from primates (e.g., the emergence of new genes and their functions) and other mammals (e.g., the origin and evolution of mammalian sex chromosomes). In the framework of a recently launched series of projects, a large amount of transcriptome and genome (e.g., epigenome) data are being produced by the wet lab unit of the group using next generation sequencing technologies for a unique collection of tissues from representative mammals and outgroup species (e.g., birds). Topics of current projects based on these data include the origins and/or evolution of protein-coding genes, alternative splicing, microRNAs, long noncoding RNAs, and dosage compensation.</p>

<p>The postdoctoral fellow will perform integrated evolutionary/bioinformatics analyses based on data produced in the lab and available genomic data. The specific project will be developed together with the candidate.</p>

<p>The language of the institute is English, and its members form an international group that is rapidly expanding. The institute is located in Lausanne, a beautiful city at Lake Geneva.</p>

<p>For more information on the group and our institute more generally, please refer to our website: http://www.unil.ch/cig/page7858_en.html</p>

<p>Please submit a CV, statement of research interest, and names of three references to: Henrik Kaessmann (Henrik.Kaessmann@unil.ch).</p>

<p>Webpage : http://www.unil.ch/cig/page7858.html</p>
]]></description>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/7088/gabi</guid>
  <pubDate>Fri, 06 Dec 2013 16:43:01 -0600</pubDate>
  <link></link>
  <title><![CDATA[GABi]]></title>
  <description><![CDATA[
<p>GABi Research<br />The major researching fields defined as the GABi scope are described next:<br />    Sequence Analysis<br />    Protein Structure Prediction<br />    Comparative Genomics<br />    Functional Analysis of Residues on Protein Families<br />    Gene/Protein Networks<br />    Genome structure &amp; base composition<br />    Highthroughput data analysis from NGS</p>

<p>Lab Page http://gabi.cidbio.org/index/</p>
]]></description>
</item>
<item>
	<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>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/19633/vital-it</guid>
	<pubDate>Thu, 18 Dec 2014 10:46:59 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/19633/vital-it</link>
	<title><![CDATA[Vital-IT]]></title>
	<description><![CDATA[<p>Vital-IT is a <strong>bioinformatics competence center</strong> that supports and collaborates with life scientists in Switzerland and beyond. The <a href="http://www.vital-it.ch/about/team.php">multi-disciplinary team</a> provides expertise, training and maintains a high-performance computing (HPC) and storage infrastructure, so as to help develop, maintain and extend life science and medical research (<a href="http://www.vital-it.ch/about/activities.php">activities</a>).</p><p>Address of the bookmark: <a href="http://www.vital-it.ch/" rel="nofollow">http://www.vital-it.ch/</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/22410/nicolas-corradi-lab</guid>
  <pubDate>Tue, 26 May 2015 16:19:02 -0500</pubDate>
  <link></link>
  <title><![CDATA[Nicolas Corradi Lab]]></title>
  <description><![CDATA[
<p>The goal of our research is to better understand the biology of microbial organisms of significant ecological, veterinary and medical importance.<br />To achieve this goal, our team combines the power of next generation DNA sequencing and  bioinformatics with molecular biology and experimental procedures.</p>

<p>Main research topics:<br />- Comparative and Population Genomics of Plant Symbionts<br />- Parasite Genome Evolution<br />- Experimental Evolution of Microbial Symbionts and Parasites<br />- Phylogenomics of Early Branching Fungi</p>

<p>More at http://corradilab.weebly.com/</p>
]]></description>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/26250/research-fellow-bioinformatics-at-central-university-of-rajasthan</guid>
  <pubDate>Tue, 02 Feb 2016 00:04:50 -0600</pubDate>
  <link></link>
  <title><![CDATA[Research Fellow Bioinformatics at Central University of Rajasthan]]></title>
  <description><![CDATA[
<p>Research Fellow Bioinformatics</p>

<p>Eligibility : MSc(Bio-Chemistry, Bio-Informatics, Bio-Tech)<br />Location : Ajmer<br />Last Date : 13 Feb 2016<br />Hiring Process : Face to Face Interview<br />Central University of Rajasthan</p>

<p>Research Fellow Job vacancies in Central University of Rajasthan</p>

<p>Project Title : “Development of natural product derived febrifugine ananlogues as a novel therapeutics against visceral leishmaniasis”</p>

<p>No. of Post : 01</p>

<p>Qualification : Master of Biochemistry, Biotechnology, Bioinformatics and related biological sciences with minimum 55%, Age limit as per government rule.</p>

<p>Desirable Experience : Candidates with experience in cell culture, Chemoinformatics, and Parasitology will be preferred.    </p>

<p>Fellowship : Rs. 25,000/- p.m. consolidated for NET qualified (14,000/- p.m. consolidated for Non-NET)<br />How to apply</p>

<p>The candidates may apply on a plain paper, along with their curriculum vitae (including name, date of birth, academic qualification starting from 10th class, summary of research experience, email id, phone number and passport size photograph) and email to vkprajapati@curaj.ac.in or post the hard copy to the Dr. Vijay Kumar Prajapati PI, DST-SERB Project (YSS/2015/000716), Department of Biochemistry, School of Life Sciences, Central University of Rajasthan, Bandarsindri, Dist- Ajmer, Rajasthan, 305 817 on or before 13th February 2016.</p>

<p>More at http://www.curaj.ac.in/Default.aspx?PageId=241</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/26537/destruct</guid>
	<pubDate>Mon, 29 Feb 2016 17:34:59 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/26537/destruct</link>
	<title><![CDATA[destruct]]></title>
	<description><![CDATA[<p>Destruct is a tool for joint prediction of rearrangement breakpoints from single or multiple tumour samples.</p>
<p>More at&nbsp;https://bitbucket.org/dranew/destruct</p><p>Address of the bookmark: <a href="https://bitbucket.org/dranew/destruct" rel="nofollow">https://bitbucket.org/dranew/destruct</a></p>]]></description>
	<dc:creator>Jitendra Prajapati</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/26571/pattern-searching-in-a-single-genome</guid>
	<pubDate>Mon, 07 Mar 2016 05:02:51 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/26571/pattern-searching-in-a-single-genome</link>
	<title><![CDATA[Pattern Searching in a Single Genome]]></title>
	<description><![CDATA[<p>Pattern searching holds much importance for biologists , for the understanding of DNA ( and its functionality) can be more than a matter of satisfying curiosity , but also give answers to many issuess uchas medical conditions . However,there are a number of ways of searching with in a single chromosome.</p><p>Address of the bookmark: <a href="https://www.stats.ox.ac.uk/__data/assets/pdf_file/0018/5373/LintonFinalReport.pdf" rel="nofollow">https://www.stats.ox.ac.uk/__data/assets/pdf_file/0018/5373/LintonFinalReport.pdf</a></p>]]></description>
	<dc:creator>Aasha</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/27110/easyfig</guid>
	<pubDate>Fri, 29 Apr 2016 05:49:39 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/27110/easyfig</link>
	<title><![CDATA[Easyfig]]></title>
	<description><![CDATA[<p>Easyfig has moved to github, for newer releases of Easyfig please visit our new webpage - https://mjsull.github.io/Easyfig.&nbsp; Easyfig is a Python application for creating linear comparison figures of multiple genomic loci with an easy-to-use graphical user interface (GUI).</p>
<p>More at http://easyfig.sourceforge.net/</p><p>Address of the bookmark: <a href="http://easyfig.sourceforge.net/" rel="nofollow">http://easyfig.sourceforge.net/</a></p>]]></description>
	<dc:creator>Poonam Mahapatra</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/26911/raca-reference-assisted-chromosome-assembly</guid>
	<pubDate>Wed, 06 Apr 2016 09:29:50 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/26911/raca-reference-assisted-chromosome-assembly</link>
	<title><![CDATA[RACA: Reference-Assisted Chromosome Assembly]]></title>
	<description><![CDATA[<p>Rreference-Assisted Chromosome Assembly (RACA), an algorithm to reliably order and orient sequence scaffolds generated by NGS and assemblers into longer chromosomal fragments using comparative genome information and paired-end reads.</p>
<p>http://www.ncbi.nlm.nih.gov/pubmed/23307812</p>
<p>http://bioen-compbio.bioen.illinois.edu/RACA/</p><p>Address of the bookmark: <a href="http://bioen-compbio.bioen.illinois.edu/RACA/" rel="nofollow">http://bioen-compbio.bioen.illinois.edu/RACA/</a></p>]]></description>
	<dc:creator>Priya Singh</dc:creator>
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