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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/45349?offset=1260</link>
	<atom:link href="https://bioinformaticsonline.com/related/45349?offset=1260" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44307/genomenotebook</guid>
	<pubDate>Thu, 20 Apr 2023 13:19:01 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44307/genomenotebook</link>
	<title><![CDATA[genomenotebook]]></title>
	<description><![CDATA[<p><a href="https://dbikard.github.io/genomenotebook/">https://dbikard.github.io/genomenotebook/</a></p>
<h2>Install<a href="https://dbikard.github.io/genomenotebook/#install"></a></h2>
<pre><code>pip install genomenotebook</code></pre>
<h2>How to use<a href="https://dbikard.github.io/genomenotebook/#how-to-use"></a></h2>
<p>Create a simple genome browser with a search bar. The sequence appears when zooming in.</p>
<div>
<div id="cb2">
<pre><code><span><a href="https://dbikard.github.io/genomenotebook/#cb2-1"></a><span>import</span> genomenotebook <span>as</span> gn</span>
<span><a href="https://dbikard.github.io/genomenotebook/#cb2-2"></a></span>
<span><a href="https://dbikard.github.io/genomenotebook/#cb2-3"></a>g<span>=</span>gn.GenomeBrowser(genome_path, gff_path, init_pos<span>=</span><span>10000</span>)</span>
<span><a href="https://dbikard.github.io/genomenotebook/#cb2-4"></a>g.show()</span></code><button title="Copy to Clipboard"></button></pre>
</div>
</div>
<p>Tracks can be added to visualize your favorite genomics data. See&nbsp;<code>Examples</code>&nbsp;for more !!!!</p><p>Address of the bookmark: <a href="https://dbikard.github.io/genomenotebook/" rel="nofollow">https://dbikard.github.io/genomenotebook/</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/44377/mitochondrial-genome-assembly-tools</guid>
	<pubDate>Wed, 06 Sep 2023 00:37:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/44377/mitochondrial-genome-assembly-tools</link>
	<title><![CDATA[Mitochondrial genome assembly tools !]]></title>
	<description><![CDATA[<p>Mitochondrial genome assembly tools are specialized software and algorithms designed to accurately reconstruct the mitochondrial genome (mitogenome) from sequencing data, typically obtained through techniques like next-generation sequencing (NGS). The mitochondrial genome is relatively small compared to the nuclear genome, making it an ideal target for assembly. Here are some commonly used mitochondrial genome assembly tools:</p><p><strong>MitoFinder:</strong> Mitofinder is a pipeline to assemble mitochondrial genomes and annotate mitochondrial genes from trimmed read sequencing data.</p><p><strong>MitoHiFi:</strong> a python pipeline for mitochondrial genome assembly from PacBio high fidelity reads</p><p>MITObim: MITObim is a tool specifically developed for the iterative assembly of mitochondrial genomes. It starts with a reference mitogenome and iteratively refines the assembly using the read data.</p><p><strong>MITOS:</strong> MITOS is a web-based platform that provides a pipeline for annotating mitochondrial genomes. It integrates multiple software tools for assembly, annotation, and visualization of mitogenomes.</p><p><strong>MIRA:</strong> MIRA (Mimicking Intelligent Read Assembly) is a versatile genome assembly tool that can be used for mitochondrial genome assembly. It supports various sequencing technologies and allows for reference-based or de novo assembly.</p><p><strong>NOVOPlasty:</strong> NOVOPlasty is a user-friendly tool designed for de novo assembly of organelle genomes, including mitochondria. It utilizes a seed-and-extend algorithm and is suitable for both short-read and long-read data.</p><p><strong>MITOS2:</strong> MITOS2 is an updated version of the MITOS pipeline, which automates the annotation of mitochondrial genomes. It provides improved accuracy and additional features for mitochondrial genome analysis.</p><p><strong>GetOrganelle:</strong> While primarily designed for chloroplast genome assembly, GetOrganelle can also be used for mitochondrial genome assembly. It is particularly useful for dealing with high-throughput sequencing data.</p><p><strong>SPAdes:</strong> SPAdes (St. Petersburg genome assembler) is a versatile genome assembly tool that can be employed for mitochondrial genome assembly, especially when dealing with complex datasets that may contain nuclear mitochondrial DNA sequences (numts).</p><p><strong>IDBA-UD:</strong> IDBA-UD (Iterative De Bruijn Graph De Novo Assembler) is another de novo assembly tool that can be used for mitochondrial genome assembly, especially in cases with relatively low coverage.</p><p><strong>Velvet:</strong> Velvet is a de novo assembly tool that can be applied to mitochondrial genome assembly, especially when working with short-read data.</p><p>When selecting a mitochondrial genome assembly tool, it's important to consider the specific characteristics of your sequencing data, such as read length and coverage, as well as the complexity of the mitochondrial genome. Additionally, some tools are better suited for specific organisms or research objectives, so choosing the right tool will depend on your particular project requirements.</p>]]></description>
	<dc:creator>Abhi</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19600/studentship-at-nagaland-university</guid>
  <pubDate>Tue, 16 Dec 2014 01:35:00 -0600</pubDate>
  <link></link>
  <title><![CDATA[Studentship at Nagaland University]]></title>
  <description><![CDATA[
<p>Nagaland University<br />(A Central University Estd. By the Act of Parliament No. 35 of 1989)<br />Lumami 798 627, Nagaland<br />DBT Sponsored ‘Bioinformatics Infrastructure Facility’ Centre</p>

<p>Applications in plain paper are invited for the posts of (1) Traineeship (2 Nos.) and (2) Studentship – (2 Nos.) in the DBT funded-Bioinformatics Infrastructure Facility (BIF), Nagaland University, Lumami-798627, Nagaland. Details are given below. Interested candidates may submit the application along with self attested copies of certificates in support of the candidature to Prof. Chitta Ranjan Deb, Coordinator or Dr. L. N. Kakati, Deputy Coordinator, BIF Centre, Nagaland University, Lumami-798627, Nagaland on or before 15th January 2015.</p>

<p>The scanned application with relevant documents may be sent by email attachment to bifnulumami@gmail.com. Shortlisted candidates will be informed by email if called for interview. No TA/DA is admissible for attending the interview.</p>

<p>Traineeship (Two nos.)</p>

<p>    Post Graduate degree in any branch of Life Sciences from UGC recognized Universities</p>

<p>    Knowledge of computers and bioinformatics</p>

<p>    Rs.8000/- p.m. fixed.</p>

<p>    6 months</p>

<p>Studentship (Two nos.)</p>

<p>    Pursuing Post Graduate degree in any branch of Life Sciences from UGC recognized Universities</p>

<p>    Knowledge of computers and bioinformatics</p>

<p>    Rs.8000/- p.m. fixed.</p>

<p>    6 months</p>

<p>Terms and Conditions:</p>

<p>i) Applicants need to produce all original documents if call for interview.<br />ii) The posts are purely temporary and the appointment does not confer any entitlement or right over the job and will not be considered as formal service.<br />iii) No TA &amp; DA will be paid for appearing in the walk-in-interview.<br />iv) The stipend/salary amount is subject to the sanction of DBT, New Delhi.</p>

<p>Advertisement: http://www.nagauniv.org.in/files/BIF%20Advt.pdf</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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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19729/senior-scientist-agricultural-bio-informatics-one-post</guid>
  <pubDate>Wed, 24 Dec 2014 05:01:02 -0600</pubDate>
  <link></link>
  <title><![CDATA[Senior Scientist (Agricultural Bio-informatics) (One post)]]></title>
  <description><![CDATA[
<p>Agricultural Scientists Recruitment Board</p>

<p>Qualifications Essential:<br />Doctoral degree in Bio-informatics/ Biotechnology/Molecular Biology and Biotechnology/Life Sciences/ Computer Sciences with specialization in Bio-informatics including relevant basic sciences with 8 years’ experience in the relevant subject as Scientist/Lecturer or in an equivalent position in the Pay Band- 3 of 15600-39100 with Grade Pay of 5400/6000/7000/8000 having made contribution to research/teachin/extension education as evidenced by published work/innovations and impact. </p>

<p>OR </p>

<p>Doctoral degree in the above subject(s) including relevant basic sciences with minimum 8 years’ experience of high quality post-doctoral research in an institution/organization as evidenced by at least 6 publications in journals with NAAS rating of 7.5 or above.</p>

<p>Desirable:<br />(i) Specialization and experience: Knowledge of software development and its application in crop bioinformatics, experience in handling ‘omies’data. <br />(ii) Teaching experience in relevant subject</p>

<p>The Secretary, Agricultural Scientists Recruitment Board, Indian Council of Agricultural Research Krishi Anusandhan Bhavan-I, Pusa New Delhi –110 012, India</p>

<p>Detailed eligibility criteria with how to apply information can be had at:<br />http://www.indiastudychannel.com/jobs/333467-Indian-Council-of-Agricultural-Research-looking-for-Assistant-Director-General.aspx</p>

<p>More at http://asrb.org.in/administrator/uploads_dir/1418978057english.pdf</p>
]]></description>
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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/bookmarks/view/19820/rstudio</guid>
	<pubDate>Sat, 27 Dec 2014 06:50:58 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/19820/rstudio</link>
	<title><![CDATA[RStudio]]></title>
	<description><![CDATA[<p>RStudio IDE is a powerful and productive user interface for R. It&rsquo;s free and open source, and works great on Windows, Mac, and Linux.</p>
<p>The developers and expert trainers are the authors of several popular R packages, including ggplot2, plyr, lubridate, and others.</p>
<p>More at http://www.rstudio.com/</p>
<p>http://www.rstudio.com/products/RStudio/</p><p>Address of the bookmark: <a href="http://www.rstudio.com/" rel="nofollow">http://www.rstudio.com/</a></p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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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/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/opportunity/view/20271/research-associate-tata-memorial-centre-advanced-centre-for-treatment-research-and-education-in-cancer-kharghar-navi-mumbai</guid>
  <pubDate>Thu, 08 Jan 2015 20:53:57 -0600</pubDate>
  <link></link>
  <title><![CDATA[Research Associate	@ TATA MEMORIAL CENTRE ADVANCED CENTRE FOR TREATMENT, RESEARCH AND EDUCATION IN CANCER KHARGHAR, NAVI MUMBAI]]></title>
  <description><![CDATA[
<p>TATA MEMORIAL CENTRE ADVANCED CENTRE FOR TREATMENT, RESEARCH AND EDUCATION IN CANCER KHARGHAR, NAVI MUMBAI – 410210</p>

<p>Website: www.actrec.gov.in; Ph: 27405000</p>

<p>No. ACTREC/Advt./ 66 /2014 23rd December, 2014<br />Research Associate	</p>

<p>International Cancer Genome Consortium (ICGC) - India Project (IRB Project No. 3 A/c. No. 2408)</p>

<p>Dr. Rajiv Sarin</p>

<p>Duration of the Project: One year Extendable up to Three years.</p>

<p>Consolidated Salary: Rs. 42,000/- p.m.</p>

<p>Application last date: 8th January, 2015.</p>

<p>Interview Date &amp; Time: 21st January, 2015, at 11.00 a.m.</p>

<p>Venue: Conference Room, 3rd floor, Khanolkar Shodhika, ACTREC.</p>

<p>Essential Qualifications and Experience:</p>

<p>Ph.D (any branch of Life Sciences)</p>

<p>The candidate must have at least one year experience after Ph.D., preferably in Genomics and Molecular Biology.</p>

<p>Candidates fulfilling these requirements should pre register themselves by sending their application in the prescribed format with recent CV and contact details of 2 referees by e-mail to icgc@actrec.gov.in latest 8th January, 2015 by 10.00 a.m.</p>

<p>Candidates shortlisted for the interview will be intimated by email on or before 9th January, 2015.</p>

<p>The interviews would be held on 21st January 2015 and will be only for the pre registered candidates who have been shortlisted.<br />No T.A./D.A. will be admissible for attending the interview.</p>

<p>At the time of Interview the candidate should bring original certificates along with CV with contact details of 2 referees and submit the photocopies (attested) of the certificates, with a recent passport size photograph.</p>

<p>Advertisement: www.actrec.gov.in/data%20files/2014/Walk-in-Research-Fellow-26-12-14.doc</p>
]]></description>
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