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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/29235?offset=1120</link>
	<atom:link href="https://bioinformaticsonline.com/related/29235?offset=1120" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	
<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/17187/urdip-bioinformatics-rajrf-vacancies</guid>
  <pubDate>Sat, 20 Sep 2014 20:52:56 -0500</pubDate>
  <link></link>
  <title><![CDATA[URDIP Bioinformatics RA/JRF Vacancies]]></title>
  <description><![CDATA[
<p>CSIR - UNIT FOR RESEARCH AND DEVELOPMENT OF INFORMATION PRODUCTS (CSIR- URDIP)</p>

<p>Adv. No. URDIP/ 6/2014</p>

<p>Opportunity for young Bioinformatics Professionals to make a career in the area of Intellectual Property CSIR has set up a Unit for Research and Development of Information Products (CSIR-URDIP) at Pune to work in the area of scientific informatics. One of the major focus areas of research work at CSIR-URDIP is PATENT INFORMATICS. With the increasing applications of Bioinformatics in the areas of life sciences industry such as Agriculture and Health Care (Diagnostics and Drugs), the output of research in these area is being protected by different forms of Intellectual Property rights. Realizing the importance of IP in the Bioinformatics field, Department of Biotechnology (DBT) has sanctioned a project on “Development, Facilitation and Harvesting of Bioinformatics related Intellectual Property” at CSIR-URDIP.</p>

<p>The project will involve application of Patent Informatics tools and techniques to Bioinformatics (including creation of patent landscapes, preparation of techno-legal reports of patentability, freedom to operate studies) to help protect IPRs and develop and conduct training programmes on IPRs related to Bioinformatics.</p>

<p>CSIR-URDIP invites applications from young Bioinformatics professionals to work on this emerging area which offers challenging opportunities and attractive career possibilities in future.</p>

<p>Position I: Research Associate</p>

<p>No of Positions: One</p>

<p>Consolidated amount Payable: Rs. 22,000/- per month + 20% HRA= Rs.26,400</p>

<p>Qualification:  PhD in Bioinformatics. In exceptional cases, candidature of M. Tech. candidates with First class in Bioinformatics with three years of relevant work experience will also be considered.</p>

<p>Age Limit: 35 years. The age should not exceed the limit indicated as on a closing date of receipt of completed application form.</p>

<p>Upper age limit is relaxable for 5 years for SC/ST, OBC, Physically handicapped and female candidates as per CSIR/Government of India rules.</p>

<p>Position II: Junior Research Fellow</p>

<p>No of Positions: one</p>

<p>Consolidated amount Payable: Rs. 16,000/- + 20% HRA = 19,200</p>

<p>Qualification: M.Sc / BE or equivalent in Bioinformatics with minimum of 55% marks in aggregate Job requirement: Scientific literature and patent search, analysis and Report Writing</p>

<p>Preference: Preference will be given to candidates with knowledge of patents and or 1-2 years of experience + Knowledge of Computers (MS Excel + Word Processing)</p>

<p>Age Limit: 28 years. The age should not exceed the limit indicated as on a closing date of receipt of completed application form.</p>

<p>For details please visit our website (www.urdip.res.in/careers) for further details and apply online by 30th September, 2014.</p>

<p>Advertisement: http://www.urdip.res.in/download/Advt6_2014.pdf</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43909/human-complete-genome</guid>
	<pubDate>Wed, 06 Jul 2022 06:42:55 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43909/human-complete-genome</link>
	<title><![CDATA[Human Complete Genome]]></title>
	<description><![CDATA[<h1 dir="auto">Telomere-to-telomere consortium</h1>
<p dir="auto">We have sequenced the CHM13hTERT human cell line with a number of technologies. Human genomic DNA was extracted from the cultured cell line. As the DNA is native, modified bases will be preserved. The data includes 30x&nbsp;<a href="https://www.pacb.com/">PacBio</a>&nbsp;<a href="https://www.ncbi.nlm.nih.gov/sra/?term=SRX789768*+CHM13">HiFi</a>, 120x coverage of&nbsp;<a href="https://nanoporetech.com/">Oxford Nanopore</a>, 70x&nbsp;<a href="https://www.pacb.com/">PacBio</a>&nbsp;CLR, 50x&nbsp;<a href="https://www.10xgenomics.com/">10X Genomics</a>, as well as&nbsp;<a href="https://bionanogenomics.com/technology/dls-technology/">BioNano DLS</a>&nbsp;and&nbsp;<a href="https://arimagenomics.com/kit/">Arima Genomics HiC</a>. Most raw data is available from this site, with the exception of the PacBio data which was generated by the University of Washington/PacBio and is available from&nbsp;<a href="https://www.ncbi.nlm.nih.gov/sra?linkname=bioproject_sra_all&amp;from_uid=269593">NCBI SRA</a>.</p>
<p dir="auto">A UCSC browser is available for&nbsp;<a href="https://genome.ucsc.edu/h/GCA_009914755.4">v2.0</a>&nbsp;(as well as legacy&nbsp;<a href="http://genome.ucsc.edu/cgi-bin/hgTracks?genome=t2t-chm13-v1.0&amp;hubUrl=http://t2t.gi.ucsc.edu/chm13/hub/hub.txt">v1.0</a>&nbsp;and&nbsp;<a href="http://genome.ucsc.edu/cgi-bin/hgTracks?genome=t2t-chm13-v1.1&amp;hubUrl=http://t2t.gi.ucsc.edu/chm13/hub/hub.txt">v1.1</a>&nbsp;versions). An interactive dotplot visualization of all genomic repeats is also available from&nbsp;<a href="https://resgen.io/paper-data/T2T-Nurk-et-al-2021/views/t2t-identity-v2">resgen.io</a>. Known issues identified in the assembly are tracked at&nbsp;<a href="https://github.com/marbl/CHM13-issues">CHM13 issues</a>.</p>
<p dir="auto">&nbsp;</p>
<p dir="auto">MORE at&nbsp;https://github.com/marbl/CHM13</p><p>Address of the bookmark: <a href="https://www.science.org/doi/10.1126/science.abj6987" rel="nofollow">https://www.science.org/doi/10.1126/science.abj6987</a></p>]]></description>
	<dc:creator>Shruti Paniwala</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/16682/java-utilities-for-next-generation-sequencing-by-pierre-lindenbaum</guid>
	<pubDate>Mon, 15 Sep 2014 17:24:49 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/16682/java-utilities-for-next-generation-sequencing-by-pierre-lindenbaum</link>
	<title><![CDATA[Java utilities for Next Generation Sequencing  by Pierre Lindenbaum]]></title>
	<description><![CDATA[<div>
<div>
<p>Java utilities for Bioinformatics</p>
</div>
<div>
<p><a href="https://github.com/lindenb/jvarkit">https://github.com/lindenb/jvarkit</a></p>
</div>
</div><p>Address of the bookmark: <a href="https://github.com/lindenb/jvarkit" rel="nofollow">https://github.com/lindenb/jvarkit</a></p>]]></description>
	<dc:creator>Robert M Willioms</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44322/genome-context-viewer-gcv</guid>
	<pubDate>Sun, 21 May 2023 19:33:43 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44322/genome-context-viewer-gcv</link>
	<title><![CDATA[Genome Context Viewer (GCV)]]></title>
	<description><![CDATA[<p><span>The Genome Context Viewer (GCV) is a web-app that visualizes genomic context data provided by third party services. Specifically, it uses functional annotations as a unit of search and comparison. By adopting a common set of annotations, data-store operators can deploy federated instances of GCV, allowing users to compare genomes from different providers in a single interface.</span></p><p>Address of the bookmark: <a href="https://github.com/legumeinfo/gcv" rel="nofollow">https://github.com/legumeinfo/gcv</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/17505/kau-thrissur-biotechbioinformatics-rasrfjrftraineestudentships</guid>
  <pubDate>Fri, 26 Sep 2014 20:07:28 -0500</pubDate>
  <link></link>
  <title><![CDATA[KAU Thrissur Biotech/Bioinformatics RA/SRF/JRF/Trainee/Studentships]]></title>
  <description><![CDATA[
<p>Applications are invited from eligible candidates for the following posts at Bioinformatics Centre (DIC), IT- BT Complex, College of Horticulture, Kerala Agricultural University, Vellanikkara, Thrissur.</p>

<p>1. Research Associate <br />Emoluments*: 14880/- + HRA 	<br />Qualification needed: Ph.D/M.Sc in Bioinformatics or Ph.D/M.Sc in Agriculture or Biotechnology with advanced Diploma in Bioinformatics <br />Desirable: 2 year experience in Bioinformatics.</p>

<p>2 Senior Research Fellow <br />Emoluments*: 10230/- 	<br />Qualification needed: M.Sc/ M.tech in Bioinformatics or M.Sc in Agriculture/ Biotechnology with Diploma in Bioinformatics. <br />Desirable: One year experience in Bioinformatics</p>

<p>3 Junior Research Fellow <br />Emoluments*: 9300/- 	<br />Qualification needed: M.Sc/ M.tech in Bioinformatics or M.Sc in Agriculture/Biotechnology/Plant Sciences with Diploma in Bioinformatics.</p>

<p>4 .Trainee/Studentship Bioinformatics <br />Emoluments*: 5000/- 	<br />Qualification needed: M.Sc in Bioinformatics with good knowledge of Bioinformatics softwares and tools.</p>

<p>5 Trainee/ Studentship Biotechnology <br />Emoluments*: 5000/- 	<br />Qualification needed: M.Sc in Biotechnology, with working knowledge in tissue culture, molecular markers and cloning of genes.</p>

<p>Candidates with the required qualifications and experience may give an application in the prescribed format with attested copies of certificates to prove eligibility on or before 30th November 2014. The applications are to be addressed to The Associate Dean, College of Horticulture and send to "Professor &amp; Coordinator, Bioinformatics Centre (DIC), IT-BT Complex, Kerala Agricultural University, Vellanikkara, Thrissur, Kerala 680 656”. The envelope may be superscribed “Application for the post at Bioinformatics Centre”.</p>

<p>*Emoluments are likely to be revised in 2014-2015</p>

<p>More at http://www.kaubic.in/downloads/Notification_bic.pdf<br />http://www.kaubic.in/downloads/Application%20form.pdf</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44491/cgviewjs-is-a-circular-genome-viewing-tool</guid>
	<pubDate>Wed, 27 Mar 2024 11:16:24 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44491/cgviewjs-is-a-circular-genome-viewing-tool</link>
	<title><![CDATA[CGView.js is a Circular Genome Viewing tool]]></title>
	<description><![CDATA[<p>CGView.js is a&nbsp;<span>C</span>ircular&nbsp;<span>G</span>enome&nbsp;<span>View</span>ing tool for visualizing and interacting with small genomes. This software is an adaptation of the Java program&nbsp;<a href="https://paulstothard.github.io/cgview/">CGView</a>.</p>
<div>
<p>CGView.js is the genome viewer of Proksee, an expert system for genome assembly, annotation and visualization.</p>
<a href="https://proksee.ca/"></a></div>
<h1 id="features">Features</h1>
<ul>
<li>
<p>Circular and linear views of genomes</p>
</li>
<li>
<p>Capable of drawing genomes up to 10 Mbp with 1000's of features and 100's contigs</p>
</li>
<li>
<p>Smooth zooming down to the sequence level</p>
</li>
<li>
<p>Easily generate features and plots directly form the sequence (e.g. ORFs, GC-content and GC-Skew)</p>
</li>
<li>
<p>Save high resolution PNG maps up to 8000x8000px</p>
</li>
<li>
<p>Fully documented API for interacting with CGView.js maps</p>
</li>
</ul><p>Address of the bookmark: <a href="https://js.cgview.ca/" rel="nofollow">https://js.cgview.ca/</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/17894/faculty-position-at-national-institute-of-technology-rourkela</guid>
  <pubDate>Sun, 05 Oct 2014 15:45:13 -0500</pubDate>
  <link></link>
  <title><![CDATA[FACULTY POSITION at NATIONAL INSTITUTE OF TECHNOLOGY, ROURKELA]]></title>
  <description><![CDATA[
<p>NIT, Rourkela, an institute of national importance under Ministry of HRD, Govt. of India invites applications from Indian nationals possessing excellent academic background along with commitment to quality teaching and research for faculty positions at the level of Professor, Associate Professor and Assistant Professor in most branches of Engineering, Science, Management and Humanities as per following table:-</p>

<p>    1 Asst. Professor (on Pre-Ph.D. Contract)</p>

<p>    2 Asst. Professor (on Contract)</p>

<p>    3 Asst. Professor</p>

<p>    4 Associate Professor</p>

<p>    5 Professor</p>

<p>Life Sciences:-</p>

<p>    i)Biochemistry and Molecular Biology; ii)Cell and Developmental Biology; iii)Immunology and Molecular Medicine; (iv) Microbiology and Ecology (v)Bioinformatics Group; vi)Biophysical Sciences</p>

<p>HOW TO APPLY:-</p>

<p>a. Candidates willing to apply for one or more posts are requested to apply online at “http://www.nitrkl.ac.in/ JOBS &amp; TENDERS /Faculty Position” .<br />b. Persons employed in Government and Semi-Government organizations may apply directly against the standing advertisement. For this the application should be completed online. The printout of the application generated online should be submitted through employer if shortlisted for interview.<br />c. The online application can be filled in multiple sessions.<br />d. Candidates are required to check the Institute website from time to time for latest information, application status call for interview, change of dates and final results.<br />e. Applications shall be received online only. Please do not send application or CV against this advertisement by email or letter mail.</p>

<p>More Info: http://nitrkl.ac.in/Jobs_Tenders/1FacultyPosition/Default.aspx</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44722/step-by-step-guide-to-running-genome-assembly</guid>
	<pubDate>Fri, 13 Dec 2024 11:35:55 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44722/step-by-step-guide-to-running-genome-assembly</link>
	<title><![CDATA[Step-by-Step Guide to Running Genome Assembly]]></title>
	<description><![CDATA[<p>Genome assembly is a critical process in bioinformatics, enabling the reconstruction of an organism's genome from short DNA sequence reads. Whether you&rsquo;re working on a new microbial genome or a complex eukaryotic organism, this guide will walk you through the steps of genome assembly using state-of-the-art tools and best practices.</p><h4><strong>What is Genome Assembly?</strong></h4><p>Genome assembly involves piecing together short DNA sequence reads generated by sequencing platforms (e.g., Illumina, PacBio, Oxford Nanopore) into longer, contiguous sequences called contigs. This can be performed as:</p><ul>
<li><strong>De Novo Assembly</strong>: Without a reference genome.</li>
<li><strong>Reference-Guided Assembly</strong>: Using a reference genome to guide the assembly process.</li>
</ul><h4><strong>Step 1: Preparing Your Data</strong></h4><p>Before starting the assembly, ensure that your raw sequencing data is high quality.</p><ol>
<li>
<p><strong>Input Data</strong></p>
<ul>
<li><strong>Short Reads</strong>: Illumina sequencing generates short, accurate reads ideal for scaffolding.</li>
<li><strong>Long Reads</strong>: PacBio and Nanopore sequencing provide long reads for resolving repetitive regions.</li>
</ul>
</li>
<li>
<p><strong>Quality Control (QC)</strong><br />Use tools like <strong>FastQC</strong> or <strong>MultiQC</strong> to assess the quality of your reads:</p>
<div>
<div dir="ltr"><code>fastqc reads.fastq multiqc . </code></div>
</div>
<p>Look for issues like low-quality bases, adapter contamination, or overrepresented sequences.</p>
</li>
<li>
<p><strong>Read Trimming and Filtering</strong><br />Trim low-quality bases and adapters using <strong>Trimmomatic</strong> or <strong>Cutadapt</strong>:</p>
<div>
<div dir="ltr"><code>trimmomatic PE reads_R1.fastq reads_R2.fastq trimmed_R1.fastq trimmed_R2.fastq \ ILLUMINACLIP:adapters.fa:2:30:10 LEADING:3 TRAILING:3 SLIDINGWINDOW:4:20 MINLEN:36 </code></div>
</div>
</li>
</ol><h4><strong>Step 2: Choosing an Assembly Strategy</strong></h4><p>Select an assembly strategy based on your data type:</p><ul>
<li>
<p><strong>Short-Read Assemblers</strong>:</p>
<ul>
<li>SPAdes: Popular for microbial genomes.</li>
<li>Velvet: Fast for smaller genomes.</li>
</ul>
</li>
<li>
<p><strong>Long-Read Assemblers</strong>:</p>
<ul>
<li>Canu: Ideal for long-read datasets.</li>
<li>Flye: Versatile for small and large genomes.</li>
</ul>
</li>
<li>
<p><strong>Hybrid Assemblers</strong>:</p>
<ul>
<li>MaSuRCA: Combines short and long reads.</li>
<li>Unicycler: Optimized for bacterial genomes.</li>
</ul>
</li>
</ul><h4><strong>Step 3: Running the Assembly</strong></h4><h5><strong>3.1. SPAdes (Short-Read Assembly)</strong></h5><p>SPAdes is an excellent choice for small genomes, such as bacteria.</p><div><div dir="ltr"><code>spades.py -1 trimmed_R1.fastq -2 trimmed_R2.fastq -o spades_output </code></div></div><p>The output includes assembled contigs (<code>contigs.fasta</code>) and scaffolds (<code>scaffolds.fasta</code>).</p><h5><strong>3.2. Canu (Long-Read Assembly)</strong></h5><p>Canu is designed for high-error long reads from PacBio or Nanopore.</p><div><div dir="ltr"><code>canu -p genome -d canu_output genomeSize=4.7m -nanopore-raw reads.fastq </code></div></div><p>The output will be in <code>canu_output/genome.contigs.fasta</code>.</p><h5><strong>3.3. Hybrid Assembly with Unicycler</strong></h5><p>Unicycler combines short and long reads for improved assemblies.</p><div><div dir="ltr"><code>unicycler -1 trimmed_R1.fastq -2 trimmed_R2.fastq -l long_reads.fastq -o unicycler_output </code></div></div><h4><strong>Step 4: Assessing Assembly Quality</strong></h4><p>After assembly, evaluate its quality using the following tools:</p><ol>
<li>
<p><strong>QUAST</strong><br />QUAST generates assembly statistics, such as N50, genome size, and GC content:</p>
<div>
<div dir="ltr"><code>quast contigs.fasta -o quast_output </code></div>
</div>
</li>
<li>
<p><strong>BUSCO</strong><br />BUSCO checks genome completeness by identifying conserved genes:</p>
<div>
<div dir="ltr"><code>busco -i contigs.fasta -o busco_output -l fungi_odb10 -m genome </code></div>
</div>
</li>
<li>
<p><strong>Assembly Graph Visualization</strong><br />Visualize assembly graphs with <strong>Bandage</strong>:</p>
<div>
<div dir="ltr"><code>Bandage load assembly_graph.gfa </code></div>
</div>
</li>
</ol><hr><h4><strong>Step 5: Post-Assembly Steps</strong></h4><ol>
<li>
<p><strong>Polishing</strong><br />Improve assembly accuracy using tools like <strong>Pilon</strong> (for short reads) or <strong>Racon</strong> (for long reads).</p>
<div>
<div dir="ltr"><code>racon long_reads.fasta mapped_reads.sam contigs.fasta &gt; polished_contigs.fasta </code></div>
</div>
</li>
<li>
<p><strong>Scaffolding</strong><br />Link contigs into scaffolds using tools like <strong>SSPACE</strong> or <strong>Opera-LG</strong> if required.</p>
</li>
<li>
<p><strong>Annotation</strong><br />Annotate the assembled genome using <strong>Prokka</strong> for prokaryotes or <strong>Maker</strong> for eukaryotes.</p>
<div>
<div dir="ltr"><code>prokka --outdir annotation_output --prefix genome contigs.fasta </code></div>
</div>
</li>
</ol><h4><strong>Step 6: Sharing and Archiving</strong></h4><ol>
<li>
<p><strong>Submit to Public Repositories</strong><br />Share your assembly in databases like <strong>NCBI GenBank</strong>, <strong>ENA</strong>, or <strong>DDBJ</strong>.</p>
</li>
<li>
<p><strong>Metadata Preparation</strong><br />Include detailed metadata for your submission, such as organism name, sequencing platform, and coverage.</p>
</li>
</ol><h4><strong>Best Practices</strong></h4><ul>
<li>Always perform quality checks at each stage to ensure data integrity.</li>
<li>Use multiple tools to cross-validate results when working with complex genomes.</li>
<li>Document parameters and software versions for reproducibility.</li>
</ul><h4><strong>Conclusion</strong></h4><p>Genome assembly is a powerful process that transforms raw sequencing data into a coherent representation of an organism&rsquo;s genome. By following this step-by-step guide, you can successfully assemble genomes and uncover valuable biological insights. Whether you&rsquo;re assembling a microbial genome or tackling the complexities of a eukaryotic genome, these tools and strategies will set you on the path to success.</p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/17924/software-developed-in-pevsner-lab</guid>
	<pubDate>Mon, 06 Oct 2014 12:41:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/17924/software-developed-in-pevsner-lab</link>
	<title><![CDATA[Software developed in pevsner lab]]></title>
	<description><![CDATA[<div>
<div id="block-system-main">
<div>
<div id="node-7">
<div>
<div>
<div>
<div>
<p><a href="http://pevsnerlab.kennedykrieger.org/dragon.htm">DRAGON</a>: Database Referencing of Array Genes Online</p>
<p><a href="http://pevsnerlab.kennedykrieger.org/php/node/96">SNOMAD</a>: Standardization and Normalization of Microarray Data</p>
<p><a href="http://pevsnerlab.kennedykrieger.org/php/node/70">SNPduo</a>: SNP Analysis Between Two Individuals</p>
<p><a href="http://pevsnerlab.kennedykrieger.org/php/node/71">SNPtrio</a>: Analyzing and Visualizing and Inheritance Patterns in Trios</p>
<p><a href="http://pevsnerlab.kennedykrieger.org/php/node/64">SNPscan</a>: Data Analysis and Visualization of SNP Data</p>
<p><a href="http://pevsnerlab.kennedykrieger.org/php/node/64">pediSNP</a>: Analyze SNP Data From a Pedigree of Two Generations</p>
<p><a href="http://pevsnerlab.kennedykrieger.org/php/node/73">kcoeff</a>: Calculate Cotterman Coefficients of SNP Genotype Data</p>
<p><a href="http://pevsnerlab.kennedykrieger.org/php/node/113">triPOD:</a> Detects chromosomal abnormalities in parent-child trio-based microarray data</p>
</div>
</div>
</div>
</div>
</div>
</div>
</div>
</div><p>Address of the bookmark: <a href="http://pevsnerlab.kennedykrieger.org/php/?q=software" rel="nofollow">http://pevsnerlab.kennedykrieger.org/php/?q=software</a></p>]]></description>
	<dc:creator>Robert M Willioms</dc:creator>
</item>
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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>
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