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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/32154?offset=1090</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/21312/r-for-microsoft-excel</guid>
	<pubDate>Wed, 18 Feb 2015 00:43:27 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/21312/r-for-microsoft-excel</link>
	<title><![CDATA[R for Microsoft Excel]]></title>
	<description><![CDATA[<div><p>If you currently use a spreadsheet like Microsoft Excel for data analysis, you might be interested in taking a look at this <a href="https://districtdatalabs.silvrback.com/intro-to-r-for-microsoft-excel-users" target="_blank">tutorial on how to transition from Excel to R</a>&nbsp;by Tony Ojeda. The tutorial explains how to use R functions in place of Excel formulas, including tools like =AVERAGE and =VLOOKUP. For the most part, it uses modern R packages to keep the R code clear and concise.</p><p>You'll likely still be using Excel as a data source, though, so you'll also want to check out this <a href="http://www.milanor.net/blog/?p=779" target="_blank">guide to importing data from Excel to R</a> from MilanoR.</p></div><p>Reference http://www.r-bloggers.com/an-r-tutorial-for-microsoft-excel-users/</p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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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/pages/view/21367/a-guide-for-complete-r-beginners-r-syntax</guid>
	<pubDate>Fri, 20 Feb 2015 23:41:03 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/21367/a-guide-for-complete-r-beginners-r-syntax</link>
	<title><![CDATA[A guide for complete R beginners :- R Syntax]]></title>
	<description><![CDATA[<p>R is a functional based language, the inputs to a function, including options, are in brackets. Note that all dat and options are separated by a comma</p><ul>
<li>Function(data, options)</li>
</ul><p>Even quit is a function</p><ul>
<li>q()</li>
</ul><p>So is help</p><blockquote><p><strong>help(read.table)</strong></p></blockquote><p>Provides the help page for the FUNCTION &lsquo;read.table&rsquo;</p><blockquote><p><strong>help.search(&ldquo;t test&rdquo;)</strong></p></blockquote><p>Searches for help pages that might relate to the phrase &lsquo;t test&rsquo;</p><p><strong>NOTE</strong>: quotes are needed for search strings, they are not needed when referring to data objects or function names.</p><p>There is a short cut for help,</p><p>? shows the help page on a function name, same as <em>help(function)</em></p><blockquote><p><strong>?read.table</strong></p></blockquote><p>?? searches for help pages on functions, same as <em>help.search(&lsquo;phrase&rsquo;)</em></p><blockquote><p><strong>??&ldquo;t test&rdquo;</strong></p></blockquote><p>Information is usually returned from a function, by default this is printed to screen</p><blockquote><p><strong>read.table(&lsquo;data.tsv&rsquo;)</strong></p></blockquote><p>This can always be stored, we call what it is stored in an &lsquo;object&rsquo;</p><p><strong>mydata </strong></p><p>here <strong>mydata</strong> is an object of type <span style="text-decoration: underline;">dataframe</span></p><p><strong>Reminder:</strong></p><ul>
<li>Vector: a list of numbers, equivalent to a column in a table</li>
<li>Data Frame = a collection of vectors. Equivalent to a table</li>
</ul><p><strong>Hint</strong>:</p><ul>
<li>Up/Down arrow keys can be use to cycle through previous commands</li>
</ul>]]></description>
	<dc:creator>Archana Malhotra</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/view/982</guid>
	<pubDate>Wed, 17 Jul 2013 15:25:09 -0500</pubDate>
	<link>https://bioinformaticsonline.com/view/982</link>
	<title><![CDATA[Is reference genome necessary for gene expression study in transcriptome sequencing or for variant discovery in genome sequencing?]]></title>
	<description><![CDATA[<p><span>Like in case of plant genomes where nature of genome is too complex and huge in size to accomplish complete<em> de novo</em> assembly by current sequencing technology. What would be alternate solution? Can we live in reference free world?</span></p>]]></description>
	<dc:creator>Rahul Agarwal</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/21472/asst-professor-at-central-university-of-jharkhand-cuj</guid>
  <pubDate>Sun, 01 Mar 2015 01:17:52 -0600</pubDate>
  <link></link>
  <title><![CDATA[Asst. Professor at Central University of Jharkhand (CUJ)]]></title>
  <description><![CDATA[
<p>Central University of Jharkhand (CUJ) has issued a recruitment notification for the recruitment of Assistant Professor through recruitment notification – Central University of Jharkhand (CUJ) Recruitment 2015 –  Advt. No.: CUJ/Advt./14-15/15 Date: 26th Feb. 2015. Candidates who have completed M.Sc, Ph.D can apply for the new recruitment notification from Central University of Jharkhand (CUJ)</p>

<p>Central University of Jharkhand has been granted funds by the Department of Biotechnology (DBT), Govt. of India to establish “DBT-Boost to CUJ Interdisciplinary Life Sciences Departments for Education and Research” Applications are invited for the Assistant Professor on purely temporary basis. The appointments shall be initially for a period of one year, renewable every year depending on the satisfactory performance, till the end of project.</p>

<p>Position: ASSISTANT PROFESSOR (Total 03)<br />Salary: 45,000/- (fixed) per month<br />Essential Qualifications: i. Good academic record with at least 55% marks (or an equivalent grade in a point scale wherever grading system is followed) at the master’s degree level with specialization in Biodiversity and Systematic/ Systems Biology/ Biophysics/ Bioinformatics from an Indian  University, or an equivalent degree from an accredited foreign university. ii. Besides fulfilling the above qualifications, the candidates must have cleared the National Eligibility Test (NET) conducted by the UGC, CSIR or similar test accredited by the UGC like SLET/SET. iii. Notwithstanding anything contained in i. and ii. candidates, who are or have been awarded Ph.D Degree in accordance with the University Grants Commission (Minimum Standards and Procedure for Award of Ph.D. Degree) Regulation, 2009, shall be exempted from therequirement of the minimum eligibility condition of NET/SLET/SET for recruitment and appointment of Assistant Professor. iv. NET/SLET/SET shall also not be required for such disciplines for which NET/SLET/SET in not conducted.<br />Desirable: Preference will be given to candidates having Ph.D in any of the above mentioned areas with NET</p>

<p>IMPORTANT DATES TO REMEMBER  :</p>

<p>Last Date to Apply for this job 24/3/2015</p>

<p>REFERENCE:</p>

<p>Central University of Jharkhand (CUJ) Recruitment 2015 –  Advt. No.: CUJ/Advt./14-15/15 Date: 26th Feb. 2015.</p>

<p>More at http://cuj.ac.in/careers.php</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/4158/sorghum-genome-sequenced</guid>
	<pubDate>Sun, 01 Sep 2013 19:46:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/4158/sorghum-genome-sequenced</link>
	<title><![CDATA[Sorghum genome Sequenced!!]]></title>
	<description><![CDATA[<p>Sorghum, a staple food for 500 million resource-poor people in marginal environments and a model for other important crops, sorghum holds vital genetic resources as humanity confronts the nexus of food crisis and climate change. The recent research provides an unmatched resource to respond to these challenges by identifying a large high-quality SNP and indel data set in diverse sorghum genotypes.</p><p>In addition to providing a broad sample of the diversity in S. bicolor, the genotypes included in this study are known to display agronomically important traits including stay-green drought resistance, insect resistance, grain size and grain quality.</p><p>Find more at&nbsp;http://www.nature.com/ncomms/2013/130827/ncomms3320/full/ncomms3320.html</p><p>&nbsp;</p>]]></description>
	<dc:creator>Jit</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/21624/ra-bioinformatics-at-ch-charan-singh-university-meerut</guid>
  <pubDate>Wed, 11 Mar 2015 09:07:07 -0500</pubDate>
  <link></link>
  <title><![CDATA[RA Bioinformatics at Ch. Charan Singh University, Meerut]]></title>
  <description><![CDATA[
<p>Ch. Charan Singh University, Meerut</p>

<p>http://molbiolabccsumrt.webs.com/</p>

<p>Applications are invited for one post of RA in a DBT funded research project “Creation of Bioinformatics Infrastructure Facility (BIF) for the promotion of Biology Teaching through Bioinformatics (BTBI) Scheme of BTISet”.</p>

<p>Candidate should have a Ph.D. degree in Bioinformatics/Biotechnology/Genetics and Plant Breeding with adequate experience in the area of Bioinformatics. If a suitable candidate for the post of RA is not available, a JRF/SRF may be appointed.</p>

<p>Candidate for the post of JRF/SRF should have Master’s degree in relevant subject with adequate experience in the area of Bioinformatics and should be NET/DBT-BINC qualified</p>

<p>Interested candidates may send their bio-data to Prof. H. S. Balyan (hsbalyan@gmail.com) (in exceptional case, bio-data may also be submitted at the time of interview) and attend the interview on Monday, March 30, 2015 at 11:00 AM in the Department of Genetics &amp; Plant Breeding, Ch. Charan Singh University, Meerut. Candidates shall bring their original documents at the time of interview for verification. No interview letters will be issued and no TA/DA will be paid.</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/4961/genetics-epigenetics-and-disease</guid>
	<pubDate>Fri, 27 Sep 2013 11:32:55 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/4961/genetics-epigenetics-and-disease</link>
	<title><![CDATA[Genetics, epigenetics and disease]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/SHpfkNRscOc" frameborder="0" allowfullscreen></iframe>Royal Society GlaxoSmithKline Prize Lecture given by Professor Adrian Bird CBE FMedSci FRS on Tuesday 22 January 2013.

Adrian Bird CBE FMedSci FRS is the Buchanan Chair of Genetics at the University of Edinburgh.

The human genome sequence has been available for more than a decade, but its significance is still not fully understood. While most human genes have been identified, there is much to learn about the DNA signals that control them. This lecture described an unusually short DNA sequence, just two base pairs long, CG, which occurs in several chemically different forms. Defects in signalling by CG are implicated in disease. For example, the autism spectrum disorder Rett syndrome is caused by loss of a protein that reads methylated CG and affects the activity of genes.

The Royal Society GlaxoSmithKline Prize Lecture is awarded for original contributions to medical and veterinary sciences published within ten years from the date of the award.]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/21703/coding-ground</guid>
	<pubDate>Tue, 17 Mar 2015 00:47:20 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/21703/coding-ground</link>
	<title><![CDATA[Coding Ground]]></title>
	<description><![CDATA[<p>Online coding group for most of the programming languages.</p>
<p>Code in almost all popular languages using Coding Ground.&nbsp;Edit, compile, execute and share your projects, 100% cloud.</p>
<p>http://www.tutorialspoint.com/codingground.htm</p><p>Address of the bookmark: <a href="http://www.tutorialspoint.com/codingground.htm" rel="nofollow">http://www.tutorialspoint.com/codingground.htm</a></p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/file/view/19560/alien-genome</guid>
	<pubDate>Sat, 13 Dec 2014 00:24:32 -0600</pubDate>
	<link>https://bioinformaticsonline.com/file/view/19560/alien-genome</link>
	<title><![CDATA[Alien Genome !!!]]></title>
	<description><![CDATA[<p>Genome sequencing, analysis and expression of Alien genome.</p><p>Note: This image/cartoon is create only for fun. It has nothing to do with any scientific findings.</p>]]></description>
	<dc:creator>Jit</dc:creator>
	<enclosure url="https://bioinformaticsonline.com/file/download/19560" length="40389" type="image/jpeg" />
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