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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/26571?offset=130</link>
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	<description><![CDATA[]]></description>
	
	
<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/9676/bioinformatics-job-in-genotypic-tech-india</guid>
  <pubDate>Mon, 07 Apr 2014 08:20:54 -0500</pubDate>
  <link></link>
  <title><![CDATA[Bioinformatics job in Genotypic Tech, India]]></title>
  <description><![CDATA[
<p>Genotypic Technology, the first Genomics Company of India is poised to become the next generation life sciences company. We are hiring professionals for our high end Genomics Labs (Molecular Biology/ Microarray/NGS) and Bioinformatics groups.</p>

<p>Apply to Genotypic Technology if you are a PhD in Life Sciences/ Molecular Biology/ Biotechnology/ Human Genetics/ Bioinformatics with minimum 4-5 years post doctoral experience as well as publications in peer reviewed journals.</p>

<p>Source: http://www.genotypic.co.in/Careers/2/Current-Openings.aspx</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/7913/the-genome-factory</guid>
	<pubDate>Thu, 16 Jan 2014 02:09:31 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/7913/the-genome-factory</link>
	<title><![CDATA[The genome factory !!!]]></title>
	<description><![CDATA[<p>Illumina, Inc. announced Tuesday that its new HiSeq X Ten Sequencing System has broken the &ldquo;sound barrier&rdquo; of human genomics by enabling the $1,000 genome. &ldquo;This platform includes dramatic technology breakthroughs that enable researchers to undertake studies of unprecedented scale by providing the throughput to sequence tens of thousands of human whole genomes in a single year in a single lab,&rdquo; Illumina stated.</p><p>Initial customers for the HiSeq X Ten System, which will ship in Q1 2014, include Macrogen, based in Seoul, South Korea and its CLIA laboratory in Rockville, Maryland, the Broad Institute in Cambridge, Massachusetts, and the Garvan Institute of Medical Research in Sydney, Australia.</p><p>&ldquo;For the first time, it looks like it will be possible to deliver the $1,000 genome, which is tremendously exciting,&rdquo; said Eric Lander, founding director of the Broad Institute and a professor of biology at MIT. &ldquo;The HiSeq X Ten should give us the ability to analyze complete genomic information from huge sample populations. Over the next few years, we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine.&rdquo;</p><p>&ldquo;The HiSeq X Ten is an ideal platform for scientists and institutions focused on the discovery of genotypic variation to enable a deeper understanding of human biology and genetic disease,&rdquo; Illumina stated. &ldquo;It can sequence tens of thousands of samples annually with high-quality, high-coverage sequencing, delivering a comprehensive catalog of human variation within and outside coding regions.&rdquo;</p><p>HiSeq X Ten utilizes a number of advanced design features to generate massive throughput. Patterned flow cells, which contain billions of nanowells at fixed locations, combined with a new clustering chemistry deliver a significant increase in data density (6 billion clusters per run). Using state-of-the art optics and faster chemistry, HiSeq X Ten can process sequencing flow cells more quickly than ever before &mdash; generating a 10x increase in daily throughput when compared to current HiSeq 2500 performance.</p><p>The HiSeq X Ten is sold as a set of 10 or more ultra-high throughput sequencing systems, each generating up to 1.8 terabases (Tb) of sequencing data in less than three days or up to 600 gigabases (Gb) per day, per system, providing the throughput to sequence tens of thousands of high-quality, high-coverage genomes per year. Illumina says the $1,000 includes typical instrument depreciation, DNA extraction, library preparation, and estimated labor.</p>]]></description>
	<dc:creator>Madhvan Reddy</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/22891/17-marie-curie-phd-position-available-immediately</guid>
  <pubDate>Tue, 23 Jun 2015 06:52:06 -0500</pubDate>
  <link></link>
  <title><![CDATA[17 Marie Curie PhD position available immediately]]></title>
  <description><![CDATA[
<p>Kindly look into following webpage:<br />http://medhealth.leeds.ac.uk/info/1450/scholarships/1795/marie_curie_phd_training_network</p>

<p>The closing date for application will be 26 June 2015.</p>
]]></description>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/8442/assistant-professor-king-saud-university-riyadh</guid>
  <pubDate>Fri, 21 Feb 2014 05:57:18 -0600</pubDate>
  <link></link>
  <title><![CDATA[Assistant Professor @ King Saud University Riyadh]]></title>
  <description><![CDATA[
<p>Qualifications: Candidates must have a Ph.D. and a strong background in Molecular and Cellular Biology, protein expression, FACS, or computational biology, and ability to work collaboratively.</p>

<p>This position will have a significant focus on providing analytical support for next generation sequencing data analysis – Exome-sequencing, Targetted sequencing as well as high-throughput genotyping on Illumina platform.</p>

<p>Job location:</p>

<p>Genome Research Chair<br />King Saud University, Riyadh-11451<br />KSA</p>

<p>Interested candidate may forward their CV to grcksu@gmail.com</p>
]]></description>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/8970/j-aires-de-sousa-research-group</guid>
  <pubDate>Wed, 12 Mar 2014 09:57:25 -0500</pubDate>
  <link></link>
  <title><![CDATA[J. Aires de Sousa Research Group]]></title>
  <description><![CDATA[
<p>We are involved in the development of methods and software in chemoinformatics. Current main projects are:</p>

<p>1.automatic learning of chemical reactivity and metabolism,<br />2.simulation of NMR spectra,<br />3.modelling of properties of ionic liquids, and<br />4.representation of molecular chirality.</p>

<p>More at http://joao.airesdesousa.com/</p>
]]></description>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/9341/gerstein-lab</guid>
  <pubDate>Wed, 19 Mar 2014 12:48:20 -0500</pubDate>
  <link></link>
  <title><![CDATA[Gerstein Lab]]></title>
  <description><![CDATA[
<p>The focus of the Gerstein Lab is interpreting personal genomes, particularly in relation to disorders, such as cancer. This endeavor has a number of related aspects described below. Moreover, the approaches we take have broad connections to a variety of data-intensive fields, within the emerging discipline of data science. </p>

<p>Personal Genome Variation: SVs<br />Human Genome Annotation: Processing Next-Gen Sequencing Data<br />Comparative Genomics: Pseudogenes as Molecular Fossils<br />Protein Structure and Function: Macromolecular Motions<br />Analysis of Diverse Networks<br />Genomics at the Forefront of Data Science</p>

<p>Lab page: http://www.gersteinlab.org/</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/9666/phylogenomicsphylogenetic-website</guid>
	<pubDate>Mon, 07 Apr 2014 02:17:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/9666/phylogenomicsphylogenetic-website</link>
	<title><![CDATA[Phylogenomics/Phylogenetic website]]></title>
	<description><![CDATA[<div>
<p>Welcome to phylobabble.org, a discussion forum for phylogenetic theory and applications. The primary goal of this forum is to discuss best practice and new developments in phylogenetics. Although we do have a Troubleshooting category for getting feedback on analyses, this is not a help site for running phylogenetics programs.</p>
<p>A great place to chat about phylogenetics for researchers and the broader community of students and science-interested citizens. </p>
</div><p>Address of the bookmark: <a href="http://phylobabble.org/" rel="nofollow">http://phylobabble.org/</a></p>]]></description>
	<dc:creator>Aaryan Lokwani</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43042/bioinformatics-in-thailand</guid>
	<pubDate>Wed, 28 Apr 2021 02:04:56 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43042/bioinformatics-in-thailand</link>
	<title><![CDATA[Bioinformatics in Thailand !]]></title>
	<description><![CDATA[<p>Our international PhD and master programs are designed for students who desire focused training in the elements of biology, computer science, and information technology needed for a successful career in the exciting new discipline of Bioinformatics &amp; Systems Biology. Students in our program will receive comprehensive training in omics analysis, database design and management, software engineering and programming (including web-based development), simulation techniques and modeling, and data integration. Each student will apply their skills to a practical project, where they will design and implement a solution to a real-world problem under the guidance of an experienced mentor in industry or academia.</p>
<p><strong>https://bioinformatics.kmutt.ac.th/about.html</strong></p>
<p>Duangrudee Tanramluk (Ajarn Wi) uses computational biology and machine learning to tackle the key to drug design problems via MANORAA webserver.</p>
<p><strong>https://mb.mahidol.ac.th/en/bioinformatics/</strong></p>
<p><strong>https://graduate.mahidol.ac.th/inter/</strong></p>
<p>This&nbsp;international&nbsp;Doctorate programme is designed to further broaden students&rsquo; knowledge in Bioinformatics and Molecular Biology to their maximum capability.&nbsp;</p>
<p><strong>http://www.mbb.psu.ac.th/programmes/phd</strong></p>
<p>Ph.D. program in Bioinformatics and Computational Biology is a joint effort of the Faculty of Science and Faculty of Medicine, Chulalongkorn University. The program has study plans for both applicants who hold a bachelor&rsquo;s degree and applicants who hold a master&rsquo;s degree in any related fields of study.</p>
<p><strong>http://www.bioinfo.sc.chula.ac.th/ph-d-program-specialization/</strong></p>
<p>Additional detail&nbsp;</p>
<p><strong>https://www.biotec.or.th/en/index.php/research/research-units/genome-technology-research-unit</strong></p>
<p><strong>https://tbrcnetwork.org/labtbrc/index.php/bioinformatics-and-chemoinformatics/</strong></p>
<p><strong>https://genomicsthailand.com/Genomic/home</strong></p><p>Address of the bookmark: <a href="https://bioinformatics.kmutt.ac.th/" rel="nofollow">https://bioinformatics.kmutt.ac.th/</a></p>]]></description>
	<dc:creator>Shruti Paniwala</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41485/chromosight-computer-vision-based-program-for-pattern-recognition-in-chromosome-hi-c-contact-maps</guid>
	<pubDate>Mon, 23 Mar 2020 06:20:04 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41485/chromosight-computer-vision-based-program-for-pattern-recognition-in-chromosome-hi-c-contact-maps</link>
	<title><![CDATA[chromosight: Computer vision based program for pattern recognition in chromosome (Hi-C) contact maps]]></title>
	<description><![CDATA[<p>Python package to detect chromatin loops (and other patterns) in Hi-C contact maps.</p>
<p>Stable version with pip:</p>
<div>
<pre>pip3 install --user chromosight</pre>
</div>
<p>Stable version with conda:</p>
<div>
<pre>conda install -c bioconda -c conda-forge chromosight</pre>
</div>
<p>or, if you want to get the latest development version:</p>
<pre><code>pip3 install --user -e git+https://github.com/koszullab/chromosight.git@master#egg=chromosight</code></pre><p>Address of the bookmark: <a href="https://github.com/koszullab/Chromosight" rel="nofollow">https://github.com/koszullab/Chromosight</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</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>
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