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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/30093?offset=1460</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44775/genomic-architecture-surrounding-the-fusion-site-of-human-chromosome-2</guid>
	<pubDate>Tue, 04 Mar 2025 12:26:29 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44775/genomic-architecture-surrounding-the-fusion-site-of-human-chromosome-2</link>
	<title><![CDATA[Genomic architecture surrounding the fusion site of human chromosome 2]]></title>
	<description><![CDATA[<p>The article <strong>"Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13&ndash;2q14.1 and Paralogous Regions on Other Human Chromosomes (https://pmc.ncbi.nlm.nih.gov/articles/PMC187548/)"</strong> explores the genomic architecture surrounding the fusion site of human chromosome 2. This fusion event is a key evolutionary marker distinguishing humans from other great apes, as humans have 46 chromosomes while chimpanzees, gorillas, and orangutans possess 48. The fusion occurred through an end-to-end joining of two ancestral chromosomes, which remain separate in nonhuman primates.</p><h3><strong>Key Findings:</strong></h3><ol>
<li>
<p><strong>Chromosomal Fusion and Its Molecular Signature:</strong></p>
<ul>
<li>The fusion site is located at <strong>2q13&ndash;2q14.1</strong> and is characterized by <strong>degenerate telomeric sequences</strong> appearing interstitially, indicating the historical head-to-head joining of ancestral chromosomes.</li>
<li>Despite being a signature of a past fusion event, these telomeric repeats are no longer functional and have undergone sequence degradation over time.</li>
</ul>
</li>
<li>
<p><strong>Extensive Duplications in the Surrounding Genomic Region:</strong></p>
<ul>
<li>The study identifies <strong>large-scale segmental duplications</strong> flanking the fusion site, with several of these regions duplicated and scattered across multiple chromosomes.</li>
<li>These duplications are predominantly located in <strong>subtelomeric and pericentromeric regions</strong>, suggesting their role in genomic instability and chromosomal evolution.</li>
</ul>
</li>
<li>
<p><strong>Paralogous Regions and Their Evolutionary Relationships:</strong></p>
<ul>
<li>A <strong>168-kilobase (kb) segment</strong> near the fusion site has <strong>98%&ndash;99% sequence identity</strong> with three regions on <strong>chromosome 9 (9pter, 9p11.2, and 9q13)</strong>.</li>
<li>Another <strong>67-kb region distal to the fusion site</strong> shows a high degree of homology to sequences in <strong>chromosome 22qter</strong>.</li>
<li>Additionally, a <strong>100-kb segment</strong> exhibits <strong>96% sequence identity</strong> with a region in <strong>chromosome 2q11.2</strong>.</li>
</ul>
</li>
<li>
<p><strong>Comparative Genomics and Evolutionary Implications:</strong></p>
<ul>
<li>By comparing the duplicated sequences and their arrangement in primates, the researchers traced the order of duplication events leading to their present distribution.</li>
<li>The presence of specific repetitive elements within these duplicated segments serves as <strong>evolutionary markers</strong> that help infer their historical rearrangements.</li>
<li>Some of these <strong>duplicated regions are associated with chromosomal inversion breakpoints</strong>, potentially contributing to evolutionary changes in primates.</li>
<li>Recurrent <strong>structural rearrangements</strong> in these regions have been linked to human chromosomal disorders.</li>
</ul>
</li>
</ol><h3><strong>Conclusions and Implications:</strong></h3><ul>
<li>The findings provide valuable insights into <strong>the structural evolution of human chromosome 2</strong>, which played a crucial role in human speciation.</li>
<li>Understanding these <strong>segmental duplications</strong> and their evolutionary trajectories sheds light on <strong>genomic instability</strong>, which may contribute to <strong>human genetic diseases</strong>.</li>
<li>The study highlights how large-scale chromosomal rearrangements, such as fusion and duplication, have influenced the <strong>evolutionary divergence of humans</strong> from other primates.</li>
</ul><p>This research advances our understanding of <strong>human genome evolution</strong> and offers a foundation for studying the effects of <strong>structural variants in genetic disorders</strong>.</p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>

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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/10380/ra-at-alagappa-university</guid>
  <pubDate>Sun, 04 May 2014 23:33:15 -0500</pubDate>
  <link></link>
  <title><![CDATA[RA at ALAGAPPA UNIVERSITY]]></title>
  <description><![CDATA[
<p>DEPARTMENT OF BIOTECHNOLOGY<br />(UGC SAP and DST-FIST &amp; PURSE Sponsored Department)<br />ALAGAPPA UNIVERSITY<br />(A State University Accredited by NAAC with „A‟ Grade)<br />Karaikudi - 630 004, India</p>

<p>WALK IN INTERVIEW</p>

<p>A walk-in Interview for the following position tenable at the Bioinformatics Infrastructure Facility (BIF), Department of Biotechnology, Alagappa University will be held at the Department of Biotechnology, Alagappa University, Karaikudi 630 003 on 15.05.2014 (Thursday) at 01:00 PM. This national facility is funded by the Department of Biotechnology, Ministry of Science and Technology, Government of India, New Delhi. The main objectives of the Centre involve teaching and research activities in bioinformatics/biotechnology.</p>

<p>RA (One Post):</p>

<p>Salary : Rs. 11000 p.m. plus admissible HRA</p>

<p>Qualification: M.Sc., in Bioinformatics/Biotechnology/Biophysics/Biochemistry/ Life Sciences</p>

<p>Interested candidates are encouraged to send their Curriculum Vitae by email to “sk_pandian@rediffmail.com” in advance. On the day of interview, the candidates must produce original certificates in proof of their educational qualification and experience and a recommendation letter from the Head of the Department/Institution where last studied/worked. Candidates who have already passed the required Degree alone are eligible to appear for interview. No TA&amp;DA will be given for attending the interview.</p>

<p>Advertisement: http://www.alagappabiotech.org/Walk%20in%20interview.pdf</p>
]]></description>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/10459/associate-professor-bio-informatics-at-university-of-allahabad-in-allahabad</guid>
  <pubDate>Wed, 07 May 2014 00:26:53 -0500</pubDate>
  <link></link>
  <title><![CDATA[Associate Professor - Bio-Informatics at University of Allahabad in Allahabad]]></title>
  <description><![CDATA[
<p>No of vacancies: 01</p>

<p>Pay scale: Pay Band of Rs. 37400-67000 with AGP of Rs. 9000.</p>

<p>i. Educational Qualification: Good academic record with a Ph.D. Degree in the concerned/allied/relevant disciplines.</p>

<p>ii. A Master's Degree with at least 55% marks (or an equivalent grade in a point scale wherever grading system is followed).</p>

<p>iii. A minimum of eight years of experience of teaching and/or research in an academic/research position equivalent to that of Assistant Professor in a University, College or Accredited Research Institution/industry excluding the period of Ph.D. research with evidence of published work and a minimum of 5 publications as books and/or research/policy papers.</p>

<p>iv. Contribution to educational innovation, design of new curricula and courses, and technology - mediated teaching learning process with evidence of having guided doctoral candidates and research students.</p>

<p>v. A minimum score as stipulated in the Academic Performance Indicator (API) based Performance Based Appraisal System (PBAS), set out in UGC Regulation.</p>

<p>Download application form from website: http://www.allduniv.ac.in/</p>

<p>Send your application to the Registrar, University of Allahabad, Allahabad-211002 (U.P.) on or before 30th April 2014</p>

<p>For more details: http://www.allduniv.ac.in/images/adv/backlog/advt-details.pdf OR http://www.allduniv.ac.in/images/news/extension-notice.pdf</p>

<p>Last Apply Date: 30 May 2014</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/23174/scaffolding-of-a-bacterial-genome-using-minion-nanopore-sequencing</guid>
	<pubDate>Tue, 07 Jul 2015 16:59:25 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/23174/scaffolding-of-a-bacterial-genome-using-minion-nanopore-sequencing</link>
	<title><![CDATA[Scaffolding of a bacterial genome using MinION nanopore sequencing]]></title>
	<description><![CDATA[<p><span>Second generation sequencing has revolutionized genomic studies. However, most genomes contain repeated DNA elements that are longer than the read lengths achievable with typical sequencers, so the genomic order of several generated contigs cannot be easily resolved. A new generation of sequencers offering substantially longer reads is emerging, notably the Pacific Biosciences (PacBio) RS II system and the MinION system, released in early 2014 by Oxford Nanopore Technologies through an early access program.</span></p><p>Address of the bookmark: <a href="http://www.nature.com/srep/2015/150707/srep11996/full/srep11996.html" rel="nofollow">http://www.nature.com/srep/2015/150707/srep11996/full/srep11996.html</a></p>]]></description>
	<dc:creator>Rahul Agarwal</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/10664/dna-replication-process-3d-animation</guid>
	<pubDate>Sat, 10 May 2014 04:41:22 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/10664/dna-replication-process-3d-animation</link>
	<title><![CDATA[DNA Replication Process [3D Animation]]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/27TxKoFU2Nw" frameborder="0" allowfullscreen></iframe>See an organised list of all the animations: http://doctorprodigious.wordpress.com/hd-animations/]]></description>
	
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/32862/gam-ngs-genomic-assemblies-merger-for-next-generation-sequencing</guid>
	<pubDate>Fri, 19 May 2017 07:44:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/32862/gam-ngs-genomic-assemblies-merger-for-next-generation-sequencing</link>
	<title><![CDATA[GAM-NGS: genomic assemblies merger for next generation sequencing]]></title>
	<description><![CDATA[<p><span>GAM-NGS is a tool able to merge two or more assemblies in order to improve contiguity and correctness. It can be used on all NGS-based assembly projects and it shows its full potential with multi-library Illumina-based projects. With more than 20 available assemblers it is hard to select the best tool. In this context we propose a tool that improves assemblies (and, as a by-product, perhaps even assemblers) by merging them and selecting the generating that is most likely to be correct.</span></p><p>Address of the bookmark: <a href="https://github.com/vice87/gam-ngs" rel="nofollow">https://github.com/vice87/gam-ngs</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/10748/bioinformatics-phd-at-cuk-kerala</guid>
  <pubDate>Sat, 10 May 2014 20:21:22 -0500</pubDate>
  <link></link>
  <title><![CDATA[Bioinformatics PhD at CUK Kerala]]></title>
  <description><![CDATA[
<p>Applications are invited from highly motivated students (UGC-CSIR-JRF) with a background in Genomics/ Biotechnology/ Molecular Microbiology/ Biochemistry and Bioinformatics to pursue research leading to Ph.D. in the following areas;</p>

<p>    1. Cancer Genomics</p>

<p>    2. Microbial Genetics and Metagenomics</p>

<p>    3. Human Infective Diseases</p>

<p>    4. Computational Drug Design</p>

<p>Interested candidates may apply to Dr. Ranjith N. Kumavath, Assistant Professor &amp; Head, Department of Genomic Science, School of Biological Sciences, Central University of Kerala, Padannakad (PO), Nileshwar, Kasaragod-671328,Kerala. Email: RNkumavath@gmail.com</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/33506/bedops-v2426-high-performance-genomic-feature-operations</guid>
	<pubDate>Mon, 12 Jun 2017 10:11:01 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/33506/bedops-v2426-high-performance-genomic-feature-operations</link>
	<title><![CDATA[BEDOPS v2.4.26: high-performance genomic feature operations]]></title>
	<description><![CDATA[<p><strong>BEDOPS v2.4.26</strong> is a suite of tools to address common questions raised in genomic studies &mdash; mostly with regard to overlap and proximity relationships between data sets. It aims to be scalable and flexible, facilitating the efficient and accurate analysis and management of large-scale genomic data.</p>
<p>The <a href="https://bedops.readthedocs.io/en/latest/content/overview.html#overview">overview</a> section of the <strong>BEDOPS v2.4.26</strong> documentation summarizes the toolkit, functionality and performance enhancements. The <a href="https://bedops.readthedocs.io/en/latest/index.html#reference">reference</a> table offers documentation for all applications and scripts.</p><p>Address of the bookmark: <a href="https://github.com/bedops/bedops" rel="nofollow">https://github.com/bedops/bedops</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36758/pbalign-maps-pacbio-reads-to-reference-sequences-and-saves-alignments-to-a-bam-file</guid>
	<pubDate>Thu, 24 May 2018 10:06:52 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36758/pbalign-maps-pacbio-reads-to-reference-sequences-and-saves-alignments-to-a-bam-file</link>
	<title><![CDATA[pbalign: maps PacBio reads to reference sequences and saves alignments to a BAM file]]></title>
	<description><![CDATA[pbalign aligns PacBio reads to reference sequences, filters aligned reads according to user-specific filtering criteria, and converts the output to either the SAM format or PacBio Compare HDF5 (e.g., .cmp.h5) format. The output Compare HDF5 file will be compatible with Quiver if --forQuiver option is specified.<p>Address of the bookmark: <a href="https://github.com/PacificBiosciences/pbalign" rel="nofollow">https://github.com/PacificBiosciences/pbalign</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/11035/bioinformatics-jrfsrf-position-at-nii</guid>
  <pubDate>Sun, 25 May 2014 16:54:04 -0500</pubDate>
  <link></link>
  <title><![CDATA[Bioinformatics JRF/SRF position at NII]]></title>
  <description><![CDATA[
<p>NATIONAL INSTITUTE OF IMMUNOLOGY, NEW DELHI-110067</p>

<p>Applications are invited for the position of Senior Research Fellow for the following time-bound sponsored project as per the details given below:</p>

<p>1. BTIS project on, “Bioinformatics Center-National Infrastructural Facility in the Area of Immunology” funded by DBT</p>

<p>Senior Research Fellow (P) (One Position only)</p>

<p>Dr. Debasisa Mohanty<br />Staff Scientist-VI<br />deb@nii.res.in</p>

<p>Qualifications: M.Sc in Biological Sciences or Biotechnology with at least 04 years of Research experience in Bioinformatics or computational Biology after the master’s degree is essential.</p>

<p>Emoluments: The selected candidates will draw consolidated emoluments as per Institute Rules, depending upon qualifications &amp; experience</p>

<p>Rs. 18,000/- per month consolidated plus 30% HRA if Leading to Ph.D/NET/GATE Qualified otherwise Rs. 14,000/- per month + 30% HRA.</p>

<p>Job description: The candidate should be well versed in programming in PERL/C++/HTML/CGI, web server and portal development, computational analysis of<br />protein structure &amp; function, molecular dynamics simulations and use of high performance computing systems.</p>

<p>GENERAL TERMS AND CONDITIONS:-</p>

<p>1. The candidates selected for the above posts will be on contract for one year or duration of the project whichever is shorter, at a time.<br />2. No hostel/ housing facility will be provided.<br />3. Number of posts may vary and shall be need based. Advertisement is no commitment.<br />4. Applicants may clearly mention the category they belong to i.e. SC/ST/OBC/PH and attach documentary proof of the same.<br />5. No TA/DA will be paid for attending the interview, if called for.<br />6. Apart from sending application in the prescribed format given below, candidates should send complete Curriculum Vitae along with the names of three referees. Curriculum Vitae should contain details of the experimental expertise.</p>

<p>HOW TO APPLY Interested candidates may apply directly, STRICTLY IN THE PRESCRIBED FORMAT GIVEN BELOW, through e-mail, to the Investigator of the project, clearly indicating the name of the project along with their complete C.V., e-mail id, fax numbers, telephone numbers. Only Short listed candidates will be called for interview and they required to submit attested copies of all their certificates and a Demand Draft of Rs 100/- drawn on Canara Bank or Indian Bank payable at Delhi/New Delhi in favour of the Director, NII (SC / ST and PH candidates are exempted subject to submission of documentary proof), at the time of interview.</p>

<p>LAST DATE OF RECEIPT OF APPLICATIONS: 06th June, 2014</p>

<p>Advertisement</p>

<p>www1.nii.res.in/sites/default/files/projectappointment-Dr.Mohanty-6June2014.pdf</p>
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