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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/26426?offset=310</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43641/refseq-viraal-genome-sequences</guid>
	<pubDate>Sat, 11 Dec 2021 08:35:18 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43641/refseq-viraal-genome-sequences</link>
	<title><![CDATA[Refseq viraal genome sequences !]]></title>
	<description><![CDATA[<p>List of all viruses on NCBI&nbsp;</p>
<p>https://ftp.ncbi.nlm.nih.gov/refseq/release/viral/</p><p>Address of the bookmark: <a href="https://ftp.ncbi.nlm.nih.gov/refseq/release/viral/" rel="nofollow">https://ftp.ncbi.nlm.nih.gov/refseq/release/viral/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/19087/dcgor</guid>
	<pubDate>Sat, 08 Nov 2014 14:54:28 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/19087/dcgor</link>
	<title><![CDATA[dcGOR]]></title>
	<description><![CDATA[<p>An R package for analysing ontologies and protein domain annotations has been published in PLoS Computational Biology (http://dx.doi.org/10.1371/journal.pcbi.1003929). The package is distributed as part of CRAN (http://cran.r-project.org/package=dcGOR), and also at GitHub for version control.<br /><br />The dedicated website is available in http://supfam.org/dcGOR, from which several demos are also provided:<br /><br />1. Analysing SCOP domains: http://supfam.org/dcGOR/demo-Fang.html<br /><br />2. Analysing Pfam domains: http://supfam.org/dcGOR/demo-Basu.html<br /><br />3. Analysing InterPro domains: http://supfam.org/dcGOR/demo-Customisation.html<br /><br />&nbsp;</p>]]></description>
	<dc:creator>Martin Jones</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43722/crossmap-program-for-genome-coordinates-conversion-between-different-assemblies</guid>
	<pubDate>Tue, 25 Jan 2022 17:59:32 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43722/crossmap-program-for-genome-coordinates-conversion-between-different-assemblies</link>
	<title><![CDATA[CrossMap: program for genome coordinates conversion between different assemblies]]></title>
	<description><![CDATA[<p><span>CrossMap is a program for genome coordinates conversion between&nbsp;</span><em>different assemblies</em><span>&nbsp;(such as&nbsp;</span><a href="http://www.ncbi.nlm.nih.gov/assembly/2928/">hg18 (NCBI36)</a><span>&nbsp;&lt;=&gt;&nbsp;</span><a href="http://www.ncbi.nlm.nih.gov/assembly/2758/">hg19 (GRCh37)</a><span>). It supports commonly used file formats including&nbsp;</span><a href="https://samtools.github.io/hts-specs/SAMv1.pdf">BAM</a><span>,&nbsp;</span><a href="https://en.wikipedia.org/wiki/CRAM_(file_format)">CRAM</a><span>,&nbsp;</span><a href="https://en.wikipedia.org/wiki/SAM_(file_format)">SAM</a><span>,&nbsp;</span><a href="https://genome.ucsc.edu/goldenPath/help/wiggle.html">Wiggle</a><span>,&nbsp;</span><a href="https://genome.ucsc.edu/goldenPath/help/bigWig.html">BigWig</a><span>,&nbsp;</span><a href="https://genome.ucsc.edu/FAQ/FAQformat.html#format1">BED</a><span>,&nbsp;</span><a href="https://genome.ucsc.edu/FAQ/FAQformat.html#format3">GFF</a><span>,&nbsp;</span><a href="https://genome.ucsc.edu/FAQ/FAQformat.html#format4">GTF</a><span>,&nbsp;</span><a href="https://docs.gdc.cancer.gov/Data/File_Formats/MAF_Format/">MAF</a><span>&nbsp;</span><a href="https://samtools.github.io/hts-specs/VCFv4.2.pdf">VCF</a><span>, and&nbsp;</span><a href="https://sites.google.com/site/gvcftools/home/about-gvcf">gVCF</a><span>.</span></p><p>Address of the bookmark: <a href="http://crossmap.sourceforge.net/" rel="nofollow">http://crossmap.sourceforge.net/</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19162/icgeb-bioinformatics-rasrfjrf-vacancies</guid>
  <pubDate>Thu, 13 Nov 2014 13:39:30 -0600</pubDate>
  <link></link>
  <title><![CDATA[ICGEB Bioinformatics RA/SRF/JRF Vacancies]]></title>
  <description><![CDATA[
<p>Research Associate/JRF/SRF position, DBT Sponsored Bioinformatics Infrastructure Facility</p>

<p>Applicants should hold a PhD or a first class MSc/MTech degree in Bioinformatics of Biotechnology/Life Sciences; experience in using bioinformatics tools, working in Linux and knowledge of computer network administration.</p>

<p>Submit CV and letter of interest by email to: Dr. Dinesh Gupta atdinesh@icgeb.res.in</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43791/comparative-genomics-visualisation-tools</guid>
	<pubDate>Thu, 17 Feb 2022 05:37:55 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43791/comparative-genomics-visualisation-tools</link>
	<title><![CDATA[Comparative genomics visualisation tools !]]></title>
	<description><![CDATA[<p>Comparative genomics visualisation tools !</p><p>Address of the bookmark: <a href="https://cmdcolin.github.io/awesome-genome-visualization/?latest=true&amp;selected=%23BRIG&amp;tag=Comparative" rel="nofollow">https://cmdcolin.github.io/awesome-genome-visualization/?latest=true&amp;selected=%23BRIG&amp;tag=Comparative</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19540/niab-molecular-biologybioinformatics-scientistra-openings</guid>
  <pubDate>Fri, 12 Dec 2014 21:08:47 -0600</pubDate>
  <link></link>
  <title><![CDATA[NIAB Molecular Biology/Bioinformatics Scientist/RA Openings]]></title>
  <description><![CDATA[
<p>D. No. 1-121/1, 4th and 5th Floors, Axis Clinicals Building, Miyapur, Hyderabad, Telangana, India- 500 049</p>

<p>Email: admin@niab.org.in Telephones: +91 40 2304 9403 Telefax: +91 40 2304 2740<br />Advertisement No: 5/2014</p>

<p>About NIAB National Institute of Animal Biotechnology (NIAB), Hyderabad, an autonomous institute under the aegis of Department of Biotechnology, Government of India, is aimed to harness novel and emerging biotechnologies and create knowledge in the cutting edge areas for improving animal health and productivity.</p>

<p>Applications are invited for the following temporary research positions to work in ongoing DBTBBSRC sponsored research project entitled “Transcriptome Analysis in Indian buffalo and the Genetics of Innate Immunity” at the National Institute of Animal Biotechnology, Hyderabad.</p>

<p>(A) Project Scientist – Level B (One Position)</p>

<p>Emoluments: Rs. 15600 + GP Rs. 5400 + 30 % HRA p.m. (Total emoluments will be Rs. 49,770/-p.m. for the duration of the project)</p>

<p>Essential Qualification: Candidates having M.V.Sc. in Veterinary Microbiology / Veterinary Pathology / Veterinary Public Health / Ph.D. degree in Life Sciences, Biotechnology, Molecular Biology or any other related field from the recognized university are eligible to apply.</p>

<p>The candidate should have a good academic record and research experience as evidenced from published in standard referred journals / patents.</p>

<p>Desirable: Candidates having research experience in the area of tissue culture, genomics, Transcriptomics and Advanced Molecular Biology will be given preference.</p>

<p>Age Limit: Not exceeding 30 years as on last date of the submission of the application.</p>

<p>(B) Research Associate in Bioinformatics (One position)</p>

<p>Fellowship: Rs. 22,000 + 30 % HRA</p>

<p>Essential Qualification: Candidates having Ph.D. degree or M.Tech. with three years of<br />experience in Bioinformatics, Computational Biology, Biotechnology, Life Sciences or any other related field are eligible to apply.</p>

<p>Desirable: Candidate having research experience in the area of next generation sequencing (NGS) data analysis, Genome wide association studies, Genomic selection, advance genomic data analysis etc., will be given preference. The candidate should have a good academic record and research experience as evidenced from published papers in standard journals / patents.</p>

<p>Age Limit: Not exceeding 30 years as on last date of the submission of the application.</p>

<p>Project Duration: The duration of the project is Three years and the positions are co- terminus with the duration of the project. (Initial appointment will be for one year and further extension will be granted based on annual review).</p>

<p>Mode of submission of application: Only online applications are to be submitted through<br />www.niab.org.in on or before 08 December, 2014. Link for online submission of applications will be available from 10 November 2014.</p>

<p>Advertisement: www.niab.org.in/Notifications/Advt_5_2014/Advt_5_2014.pdf</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43923/monkeypox-virus-isolate-mpxv-usa-2022-ma001-complete-genome</guid>
	<pubDate>Tue, 26 Jul 2022 06:21:07 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43923/monkeypox-virus-isolate-mpxv-usa-2022-ma001-complete-genome</link>
	<title><![CDATA[Monkeypox virus isolate MPXV_USA_2022_MA001, complete genome]]></title>
	<description><![CDATA[<pre>LOCUS       ON563414              197205 bp    DNA     linear   VRL 30-MAY-2022
DEFINITION  Monkeypox virus isolate MPXV_USA_2022_MA001, complete genome.
ACCESSION   ON563414
VERSION     ON563414.3
KEYWORDS    .
SOURCE      Monkeypox virus (monkeypox)
  ORGANISM  <a href="https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=10244">Monkeypox virus</a>
            Viruses; Varidnaviria; Bamfordvirae; Nucleocytoviricota;
            Pokkesviricetes; Chitovirales; Poxviridae; Chordopoxvirinae;
            Orthopoxvirus.</pre><p>Address of the bookmark: <a href="https://www.ncbi.nlm.nih.gov/nuccore/ON563414" rel="nofollow">https://www.ncbi.nlm.nih.gov/nuccore/ON563414</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19542/bic-pgi-bioinformatics-project-dissertation-program</guid>
  <pubDate>Fri, 12 Dec 2014 21:17:30 -0600</pubDate>
  <link></link>
  <title><![CDATA[BIC-PGI Bioinformatics Project Dissertation Program]]></title>
  <description><![CDATA[
<p>Biomedical Informatics Centre, PGIMER, Chandigarh invites application for a project dissertation program for students who have completed their first year of M.Sc. in Bioinformatics.</p>

<p>This is an exciting opportunity for Master's students to train in modern methods in Bioinformatics. The duration of the training will be four to six months, starting from January 2015.</p>

<p>Education: Pursuing M.Sc. Bioinformatics</p>

<p>Essential: Post graduate applicants should have completed their first year and should be in the third semester or first half of the second year.</p>

<p>Only students who are willing to spend a minimum period of 4 months to a maximum of six months, without any break, would be eligible for the program.</p>

<p>How to Apply: Candidates interested in the above project dissertation program should apply online.</p>

<p>Send your CV, Scanned copy of letter of recommendation from Head of Institution along with Registration form in the given format should be sent to: info@bicpgi.org</p>

<p>Please mention clearly “Project dissertation &amp; your Name” in the Subject.</p>

<p>The last date for application is December 31, 2014</p>

<p>Note: Selected candidates may please note that the program is free of cost and would not provide any financial aid for transport and stay.</p>

<p>Name of the selected candidates would be posted on the centre website by December 31, 2014. Incomplete applications will be rejected.</p>

<p>For more information visit our website: http://www.bic-pgi.org/project_dissertation.pdf</p>
]]></description>
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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/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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