<?xml version='1.0'?><rss version="2.0" xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:georss="http://www.georss.org/georss" xmlns:atom="http://www.w3.org/2005/Atom" >
<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/30207?offset=880</link>
	<atom:link href="https://bioinformaticsonline.com/related/30207?offset=880" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	
<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/6559/ai-cadd-project-kerela-university</guid>
  <pubDate>Tue, 19 Nov 2013 17:48:15 -0600</pubDate>
  <link></link>
  <title><![CDATA[Ai-CADD Project @ Kerela University]]></title>
  <description><![CDATA[
<p>Applications are invited for the following Positions in the AiCADD project funded by MHRD Govt of India</p>

<p>Last Date for Submitting Application: 25th November 2013</p>

<p>1. Senior Scientist: (01 position)<br />Pay Scale: Rs.40, 000/-<br />Qualifications:  PhD/ Post Doctoral with Experience in CADD</p>

<p>2. Junior Scientist (10 positions)<br />Pay Scale: Rs. 22,000/-<br />Qualifications: MPhil / Masters Degree in Bioinformatics / Computational Biology / CADD / Ayurveda</p>

<p>3. Technical Assistant (01+01 positions)<br />Pay Scale: Rs.12,000/-<br />Qualifications: 1. BSc Computer Science/ MCA<br />Qualifications: 2. MSc Biotechnology / MSc Microbiology </p>

<p>4. Programmer (01 position)<br />Pay Scale: Rs.20,000/-<br />Qualifications: MSc Computer Science/ MCA / B Tech (Experience in MATLAB, C, C++) Industrial experience is desirable</p>

<p>5. Teaching Assistant (03 positions)<br />Pay Scale: Rs.10,000/-<br />Qualifications: MSc in Bioinformatics </p>

<p>6. Administration Assistant (02 positions)<br />Pay Scale: Rs.8,000/-<br />Qualifications: Degree + PGDCA</p>

<p>The Selection process comprises of written test and interview. Positions are purely temporary (initially for the period of one year) and co-terminus with the project. For more details mail to: cbi.uok [at] gmail.com</p>

<p>More detail @ https://sites.google.com/site/centreforbioinformatics/announcements/applicationsinvitedforapplicationforai-caddproject</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43661/maftools</guid>
	<pubDate>Fri, 17 Dec 2021 03:18:28 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43661/maftools</link>
	<title><![CDATA[maftools]]></title>
	<description><![CDATA[<p>With advances in Cancer Genomics, <a href="https://docs.gdc.cancer.gov/Data/File_Formats/MAF_Format/">Mutation Annotation Format</a> (MAF) is being widely accepted and used to store somatic variants detected. <a href="http://cancergenome.nih.gov">The Cancer Genome Atlas</a> Project has sequenced over 30 different cancers with sample size of each cancer type being over 200. <a href="https://wiki.nci.nih.gov/display/TCGA/TCGA+MAF+Files">Resulting data</a> consisting of somatic variants are stored in the form of <a href="https://docs.gdc.cancer.gov/Data/File_Formats/MAF_Format/">Mutation Annotation Format</a>. This package attempts to summarize, analyze, annotate and visualize MAF files in an efficient manner from either TCGA sources or any in-house studies as long as the data is in MAF format.</p>
<p>https://www.bioconductor.org/packages/devel/bioc/vignettes/maftools/inst/doc/maftools.html</p><p>Address of the bookmark: <a href="https://github.com/PoisonAlien/maftools" rel="nofollow">https://github.com/PoisonAlien/maftools</a></p>]]></description>
	<dc:creator>Surabhi Chaudhary</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/6577/scientist-b-vector-control-research-centre</guid>
  <pubDate>Tue, 19 Nov 2013 21:19:15 -0600</pubDate>
  <link></link>
  <title><![CDATA[Scientist-B @ VECTOR CONTROL RESEARCH CENTRE]]></title>
  <description><![CDATA[
<p>VECTOR CONTROL RESEARCH CENTRE<br />(Indian Council of Medical Research)<br />Indira Nagar Medical Complex<br />Puducherry-605006</p>

<p>WALK-IN-INTERVIEW</p>

<p>The following vacancies shall be filled purely on adhoc basis under Non-Institutional adhoc project “Bioinformatics in ICMR Institutes” funded by Indian Council of Medical Research at Vector Control Research Centre, Puducherry, to be renewed annually and filled through Walk-in-Interview as indicated below. Candidates who wish to appear for the Walk-in-Interview can download the application format given in the website of Vector Control Research Centre (www.vcrc.res.in). Duly filled in application along with attested copies of certificate should be submitted at time of interview.</p>

<p>Date &amp; Time : 05.12.2013 at 9.00 AM – Scientist-C (Non-Medical)</p>

<p>05.12.2013 at 1.30 PM – Scientist-B (Non-Medical)<br />06.12.2013 at 9.00 AM – Technical Assistant (Research Assistant)<br />06.12.2013 at 1.30 PM – Multi Tasking Staff (General)</p>

<p>Place : Vector Control Research Centre, Puducherry</p>

<p>Project entitled : Biomedical Informatics Centres of ICMR</p>

<p>1. Scientist - C (Non-Medical) Number of post – ONE</p>

<p>Essential qualification</p>

<p>B.E./ B. Tech. Degree in Bioinformatics/ Computational Biology from a recognized University with 6 years experience in the relevant field  OR</p>

<p>First class Master’s Degree and Ph.D. Degree in Bioinformatics/ Computational Biology from a recognized University OR</p>

<p>First class Master’s Degree in Bioinformatics/ Computational Biology from a recognized University with 4 years R &amp; D experience in the related subjects as mentioned above OR</p>

<p>Second class Master’s Degree + Ph.D. in Bioinformatics/ Computational Biology from a recognized University with 4 years research experience in bio-medical subjects</p>

<p>Age: Not exceeding 40 years Consolidated Salary – Rs.39,960/- p.m. + HRA as<br />admissible </p>

<p>Desirable qualification (i) Post-doctorate in Bioinformatics/ Computational Biology or M.E. / M. Tech. Degree in Bioinformatics/ Computational Biology from a recognized University for candidates with First Class relevant degree.</p>

<p>(ii) Additional post-doctoral research / teaching experience in Bioinformatics/Computational Biology in recognized Institute(s).</p>

<p>(iii) Knowledge of computer applications or data management</p>

<p>Job requirements i) To apply Bioinformatics / Computational Biology tools in understanding interactions between vectors and parasites/ pathogens and target based development of drug / insecticides.</p>

<p>ii) To assist the investigators to carry out genomic studies on parasites/pathogens/vectors of vector borne diseases</p>

<p>Advertisement: http://vcrc.res.in/Adv_Bio13.pdf</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43770/chromeister-an-ultra-fast-heuristic-approach-to-detect-conserved-signals-in-extremely-large-pairwise-genome-comparisons</guid>
	<pubDate>Thu, 03 Feb 2022 04:01:55 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43770/chromeister-an-ultra-fast-heuristic-approach-to-detect-conserved-signals-in-extremely-large-pairwise-genome-comparisons</link>
	<title><![CDATA[chromeister: An ultra fast, heuristic approach to detect conserved signals in extremely large pairwise genome comparisons.]]></title>
	<description><![CDATA[<p>chromeister: An ultra fast, heuristic approach to detect conserved signals in extremely large pairwise genome comparisons.</p>
<p dir="auto">USAGE:</p>
<ul dir="auto">
<li>-query: sequence A in fasta format</li>
<li>-db: sequence B in fasta format</li>
<li>-out: output matrix</li>
<li>-kmer Integer: k&gt;1 (default 32) Use 32 for chromosomes and genomes and 16 for small bacteria</li>
<li>-diffuse Integer: z&gt;0 (default 4) Use 4 for everything - if using large plant genomes you can try using 1</li>
<li>-dimension Size of the output matrix and plot. Integer: d&gt;0 (default 1000) Use 1000 for everything that is not full genome size, where 2000 is recommended</li>
</ul><p>Address of the bookmark: <a href="https://github.com/estebanpw/chromeister" rel="nofollow">https://github.com/estebanpw/chromeister</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/6835/roslin-bioinformatics-group</guid>
  <pubDate>Mon, 25 Nov 2013 23:55:25 -0600</pubDate>
  <link></link>
  <title><![CDATA[Roslin Bioinformatics Group]]></title>
  <description><![CDATA[
<p>Roslin Bioinformatics Group</p>

<p>The Law group provides internal Institute-specific development, training and support roles for data manipulation, sequence analysis and any other aspect of the analysis of biological data using computer systems. Additionally we provide databases and applications supporting the international animal science community, particularly tools and resources for genome mapping.</p>

<p>Head: Andy Law. Members: John Bowman (animal facility database applications), Zen Lu (bioinformatics support), Trevor Paterson (software development)</p>

<p>More @ http://www.bioinformatics.ed.ac.uk/groups/roslin-bioinformatics-group</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43846/the-complete-sequence-of-a-human-genome</guid>
	<pubDate>Thu, 31 Mar 2022 23:58:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43846/the-complete-sequence-of-a-human-genome</link>
	<title><![CDATA[The complete sequence of a human genome]]></title>
	<description><![CDATA[<p><span>The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.</span></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>Neel</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/7569/phd-at-university-of-calgary</guid>
  <pubDate>Fri, 27 Dec 2013 20:24:39 -0600</pubDate>
  <link></link>
  <title><![CDATA[PhD at University of Calgary]]></title>
  <description><![CDATA[
<p>Institution/Company: <br />University of Calgary<br />Location: <br />Calgary, AB<br />Job Description: </p>

<p>Novel diagnostic platform for detection of Osteoarthritis</p>

<p>I invite applications from highly motivated individuals to join my laboratory as a PhD student in Systems Biology at the University of Calgary McCaig Institute for Bone and Joint Health. This project is aimed at characterizing the networks of physical (protein-protein) interactions underlying inflammatory processes in patients with Osteoarthritis and how this differs from patients with Rheumatoid Arthritis and normal individuals. This work will eventually lead to the development of a novel diagnostic platform for the non-invasive and accurate detection of early Osteoarthritis. The selected candidate will use state-of-the-art computational methodologies to systematically analyze proteomic data, and develop /implement new algorithms to identify protein and functional interaction networks from high throughput experimental data. The individual will also benefit by working closely with experts at the UofC and UofA through an AIHS Alberta Osteoarthritis Team Grant which includes experts from all pillars of health research. The candidate will also be supported to attend bioinformatics workshops and conferences to advance and disseminate their research.<br />Qualifications: The ideal candidate will have a Master’s degree in Computational Biology, Bioinformatics, or equivalent with strong background knowledge of the Biological Sciences, Biochemistry, and Microbiology. The individual should additionally have experience in handling high-throughput data sets as well as programming skills. The candidate will be registered as a PhD student in Dr. Krawetz’s laboratory, located in the new state-of-the-art Health Research Innovation Centre at the UofC. The individual will have strong verbal and written skills and the ability to work efficiently in a team environment.</p>

<p>In addition to the outstanding research opportunities available in this setting, students also enjoy the many cultural and sporting amenities provided in the city of Calgary, and can take advantage of the unparalleled skiing and hiking in the Rocky Mountains that are less than an hour away.</p>

<p>Candidates must be academically competitive and will be expected to apply for external funding. The stipend is $25,000/yr. For outstanding PhD students, internal top-up award opportunities are available on a competitive basis. If interested in joining the lab, please contact Dr. Krawetz directly at rkrawetz@ucalgary.ca and provide the following information:</p>

<p>- Short cover letter explaining your interest in the lab<br />- Resume<br />- Scanned copy of transcript or listing of course grades<br />- Names and contact information for two individuals who will be willing to provide letters of reference</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44311/jbrowse-2-a-modular-genome-browser-with-views-of-synteny-and-structural-variation</guid>
	<pubDate>Tue, 25 Apr 2023 20:58:52 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44311/jbrowse-2-a-modular-genome-browser-with-views-of-synteny-and-structural-variation</link>
	<title><![CDATA[JBrowse 2: a modular genome browser with views of synteny and structural variation]]></title>
	<description><![CDATA[<ul dir="auto">
<li>igvjs - a create-react-app with igv package from npm installed. the igv.js is instrumented to output "DONE" to the console when finished, and to have an increased fetchSizeLimit (which is otherwise git in CRAM longread tests)</li>
<li>jb2-web - stock instance of jbrowse-web v1.7.5</li>
<li>jb1 - stock instance of jbrowse 1 v1.16.11</li>
<li>jb2 embedded - a create-react-app with @jbrowse/react-linear-genome-view</li>
</ul><p>Address of the bookmark: <a href="https://github.com/GMOD/jb2profile" rel="nofollow">https://github.com/GMOD/jb2profile</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/7215/postdoc-positions-in-computational-biology-center-for-genomic-science-milan-italy</guid>
  <pubDate>Thu, 12 Dec 2013 18:34:47 -0600</pubDate>
  <link></link>
  <title><![CDATA[Postdoc positions in computational biology - Center for Genomic Science - Milan, Italy]]></title>
  <description><![CDATA[
<p>Job Description: three postdoc positions in computational biology are available at the Center for Genomic Science in Milan (Italy):</p>

<p>- Development of computational methods to investigate the interplay between epigenetic and genetic layers and their role in tumor progression, by integrating genomic, epigenomic and transcriptional data. PI: Mattia Pelizzola (http://tiny.cc/comEpi)<br />- Epigenome and transcriptome analysis in mouse models of Hepatocellular Carcinoma. PI: Bruno Amati - Small and long non-coding RNAs in cancer stem cells. PI: Francesco Nicassio</p>

<p>All projects will benefit from the availability of both in-house and publicly available next-generation sequencing datasets. Familiarity with Linux environment, programming skills (especially in R) and a background in either computational biology, or physics/engineering/math will be advantageous.</p>

<p>Deadline for the application January 6th, to apply: http://genomics.iit.it/resources.html</p>

<p>Start date: March 1st, 2014</p>

<p>Duration: 1+2 years</p>

<p>Contact Person (Referent): Mattia Pelizzola</p>

<p>Ref. E-Mail: mattia.pelizzola@iit.it</p>

<p>Tel: 0039-02-94375058<br />Group Web Page: http://genomics.iit.it</p>
]]></description>
</item>
<item>
	<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>
</item>

</channel>
</rss>