<?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/4959?offset=1320</link>
	<atom:link href="https://bioinformaticsonline.com/related/4959?offset=1320" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/33306/ancestral-sequence-reconstruction-asr-or-ancestral-genesequence-reconstructionresurrection-tools-to-study-molecular-evolution</guid>
	<pubDate>Tue, 30 May 2017 04:20:05 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/33306/ancestral-sequence-reconstruction-asr-or-ancestral-genesequence-reconstructionresurrection-tools-to-study-molecular-evolution</link>
	<title><![CDATA[Ancestral sequence reconstruction (ASR) or ancestral gene/sequence reconstruction/resurrection tools to study molecular evolution]]></title>
	<description><![CDATA[<p><span><strong>Ancestral sequence reconstruction</strong><span>&nbsp;(</span><strong>ASR</strong><span>) &ndash; also known as&nbsp;</span><strong>ancestral gene</strong><span>/</span><strong>sequence reconstruction</strong><span>/</span><strong>resurrection</strong><span>&nbsp;&ndash; is a technique used in the study of&nbsp;</span>molecular evolution<span>. The method consists of the synthesis of an ancestral&nbsp;</span>gene<span>&nbsp;and expression of the corresponding ancestral&nbsp;</span>protein<span>.&nbsp;</span><sup id="cite_ref-thornton_1-0"><a href="https://en.wikipedia.org/wiki/Ancestral_sequence_reconstruction#cite_note-thornton-1"></a></sup><span>The idea of protein 'resurrection' was suggested in 1963 by Pauling and Zuckerkandl.</span><sup id="cite_ref-2"><a href="https://en.wikipedia.org/wiki/Ancestral_sequence_reconstruction#cite_note-2"></a></sup><span>&nbsp;Some early efforts were made in the eighties-nineties, led by the laboratory of&nbsp;</span>Steven A. Benner<span>, showing the potential of this technique &ndash; one that only started to be fulfilled in the post-genomic era.</span><sup id="cite_ref-3"><a href="https://en.wikipedia.org/wiki/Ancestral_sequence_reconstruction#cite_note-3"></a></sup><span>&nbsp;Thanks to the improvement of algorithms and of better sequencing and synthesis techniques, the method was developed further in the early 2000s to allow the resurrection of a greater variety of and much more ancient genes.</span><sup id="cite_ref-4"><a href="https://en.wikipedia.org/wiki/Ancestral_sequence_reconstruction#cite_note-4"></a></sup><span>&nbsp;Over the last decade, ancestral protein resurrection has developed as a strategy to reveal the mechanisms and dynamics of protein evolution.&nbsp;</span></span></p><p><img src="https://upload.wikimedia.org/wikipedia/commons/thumb/e/e4/ASR_phylogeny.png/510px-ASR_phylogeny.png" alt="image" width="610" height="435" style="border: 0px; border: 0px;"></p><p><span>Following are the list of&nbsp;</span><strong style="font-size: 12.8px;">Ancestral /sequence/ reconstruction</strong><span>&nbsp;(</span><strong style="font-size: 12.8px;">ASR</strong><span>) tools:&nbsp;</span></p><p><a href="http://www.bx.psu.edu/miller_lab/car/" target="_blank" title="To inferCars official website"><span>inferCars</span></a></p><p><span><span><span><span><span>Reconstructs contiguous regions of an ancestral genome. Given information about adjacencies between conserved segments in each modern species, our goal is to infer segment order in the ancestral genome. To get a clean and precise statement of the problem, we formalize it using graph theory. We develop an algorithm that identifies a most parsimonious scenario for the history of each individual adjacency, although the whole-genome prediction is not guaranteed to optimize traditional measures like the number of breakpoints. We introduce weights to the graph edges to model the reliability of each adjacency.</span></span></span></span></span></p><p><span><span><a href="http://paleogenomics.irmacs.sfu.ca/ANGES/" target="_blank" title="To ANGES official website">ANGES</a>:</span><a href="http://paleogenomics.irmacs.sfu.ca/ANGES/" target="_blank" title="To ANGES official website">reconstructing ANcestral GEnomeS maps</a></span></p><p><span><span><span><span><span><span>A suite of Python programs that allows reconstructing ancestral genome maps from the comparison of the organization of extant-related genomes. ANGES can reconstruct ancestral genome maps for multichromosomal linear genomes and unichromosomal circular genomes. It implements methods inspired from techniques developed to compute physical maps of extant genomes.</span></span></span></span></span></span></p><p><a href="http://virulence.molgen.mpg.de/cocos/" target="_blank" title="To Cocos official website"><span>Cocos</span></a></p><p><span><span><span><span><span><span><span>Constructs phylogenies of multi-domain proteins. With a given species tree and domain phylogenies, the procedure infers the composition of ancestral multi-domain proteins. Cocos implements and extend a suggested algorithmic approach by Behzadi and Vingron in an easy-to-use program. Such method could be applied to reconstruction of partial homologous units such as bacterial operons or protein complexes.</span></span></span></span></span></span></span></p><p><a href="https://github.com/msrosenberg/MySSP" target="_blank" title="To MySSP official website"><span>MySSP</span></a></p><p><span><span><span><span><span><span><span><span>Constructs an initial DNA sequence at the root of the tree and simulates evolution across the tree using a variety of common models of DNA evolution. MySSP is a program for the simulation of DNA sequence evolution across a phylogenetic tree. It is designed for large-scale studies, including simulation of multiple replicates and outputs sequences into NEXUS, MEGA, or FASTA formats. MySSP has a fairly simple graphical user interface (GUI) for basic use, but also has a specialized batch script interpreter to allow for more complicated or large-scale simulations.</span></span></span></span></span></span></span></span></p><p><span><span><a href="http://www.cs.cmu.edu/~ckingsf/software/parana/" target="_blank" title="To PARANA official website">PARANA</a>:&nbsp;</span><a href="http://www.cs.cmu.edu/~ckingsf/software/parana/" target="_blank" title="To PARANA official website">Parsimonious Ancestral Reconstruction And Network Analysis</a></span></p><p><span><span><span><span><span><span><span><span><span>Performs parsimony based inference of ancestral biological networks. Given multiple extant networks and phylogenetic information relating extant nodes, PARANA finds a parsimonious set of ancestral interaction events (edge gains and losses) which explain the extant networks. The framework adopted by PARANA is able to represent network evolution under models that support gene duplication and loss and independent interaction gain and loss. The method works on both directed and undirected networks and can incorporate asymmetric interaction gain and loss costs. In contrast to previous approaches, PARANA does not require knowing the relative ordering of unrelated duplication events and thus, works on phylogenetic trees even where branch lengths are not provided.</span></span></span></span></span></span></span></span></span></p><p><span><span><a href="http://www-labs.iro.umontreal.ca/~mabrouk/" target="_blank" title="To GapAdj official website">GapAdj</a>:&nbsp;</span><a href="http://www-labs.iro.umontreal.ca/~mabrouk/" target="_blank" title="To GapAdj official website">Gapped Adjacencies</a></span></p><p><span><span><span><span><span><span><span><span><span><span>A synteny-based method that is flexible enough to handle a model of evolution involving whole genome duplication events, in addition to rearrangements, gene insertions, and losses. Ancestral relationships between markers are defined in term of Gapped Adjacencies, i.e. pairs of markers separated by up to a given number of markers. It improves on a previous restricted to direct adjacencies, which revealed a high accuracy for adjacency prediction, but with the drawback of being overly conservative, i.e. of generating a large number of contiguous ancestral regions (CARs).</span></span></span></span></span></span></span></span></span></span></p><p><a href="http://ancestors.bioinfo.uqam.ca/"><span><span><span><span><span><span><span><span><span><span>ANCESTOR</span></span></span></span></span></span></span></span></span></span></a></p><p><span><span><span><span><span><span><span><span><span><span><span>A web server allowing one to easily and quickly perform the last three steps of the ancestral genome reconstruction procedure. Ancestors implements several alignment algorithms, an indel maximum likelihood solver and a context-dependent maximum likelihood substitution inference algorithm. The results presented by the server include the posterior probabilities for the last two steps of the ancestral genome reconstruction and the expected error rate of each ancestral base prediction.</span></span></span></span></span></span></span></span></span></span></span></p><p><a href="http://bioinfo.lifl.fr/procars/" target="_blank" title="To ProCARs official website"><span>ProCARs</span></a></p><p>Reconstructs ancestral gene orders as contiguous ancestral regions (CARs) with a progressive homology-based method. ProCARs runs from a phylogeny tree (without branch lengths needed) with a marked ancestor and a block file. This homology-based method is based on iteratively detecting and assembling ancestral adjacencies, while allowing some micro-rearrangements of synteny blocks at the extremities of the progressively assembled CARs. The method starts with a set of blocks as the initial set of CARs, and detects iteratively the potential ancestral adjacencies between extremities of CARs, while building up the CARs progressively by adding, at each step, new non-conflicting adjacencies that induce the less homoplasy phenomenon. The species tree is used, in some additional internal steps, to compute a score for the remaining conflicting adjacencies, and to detect other reliable adjacencies, in order to reach completely assembled ancestral genomes.</p><p><a href="http://fastml.tau.ac.il/" target="_blank" title="To FastML official website"><span>FastML</span></a></p><p>A user-friendly tool for the reconstruction of ancestral sequences. FastML implements various novel features that differentiate it from existing tools: (i) FastML uses an indel-coding method, in which each gap, possibly spanning multiples sites, is coded as binary data. FastML then reconstructs ancestral indel states assuming a continuous time Markov process. FastML provides the most likely ancestral sequences, integrating both indels and characters; (ii) FastML accounts for uncertainty in ancestral states: it provides not only the posterior probabilities for each character and indel at each sequence position, but also a sample of ancestral sequences from this posterior distribution, and a list of the k-most likely ancestral sequences; (iii) FastML implements a large array of evolutionary models, which makes it generic and applicable for nucleotide, protein and codon sequences; and (iv) a graphical representation of the results is provided, including, for example, a graphical logo of the inferred ancestral sequences.</p><p><a href="http://rth.dk/resources/maxAlike/" target="_blank" title="To maxAlike official website"><span>maxAlike</span></a></p><p>Reconstructs a genomic sequence for a specific taxon based on sequence homologs in other species. The input is a multiple sequence alignment and a phylogenetic tree that also contains the target species. For this target species, the algorithm computes nucleotide probabilities at each sequence position. Consensus sequences are then reconstructed based on a certain confidence level.</p><p><span><span><a href="http://www.geneorder.org/server.php" target="_blank" title="To MLGO official website">MLGO</a>:&nbsp;</span><a href="http://www.geneorder.org/server.php" target="_blank" title="To MLGO official website">Maximum Likelihood for Gene Order Analysis</a></span></p><p>A web tool for the reconstruction of phylogeny and/or ancestral genomes from gene-order data. MLGO was designed for analysis of large-scale genomic changes including not only rearrangements but also gene insertions, deletions and duplications. MLGO can be used to infer a phylogeny from genome rearrangement and gene order data, and can also obtain an estimation of ancestral genomes, given an input tree. MLGO takes the advantage of binary encoding on gene-order data, supports a fairly general model of genomic evolution (rearrangements plus duplications, insertions, and losses of genomic regions), and successfully accommodates itself into the framework of maximized likelihood.</p><p>Image Reference : Wiki</p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12787/integrative-genomics-viewer-igv-tutorial</guid>
	<pubDate>Sat, 12 Jul 2014 15:16:23 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12787/integrative-genomics-viewer-igv-tutorial</link>
	<title><![CDATA[Integrative Genomics Viewer (IGV) tutorial]]></title>
	<description><![CDATA[<p>The <a href="http://www.broadinstitute.org/igv/">Integrative Genomics Viewer (IGV)</a> from the Broad Center allows you to view several types of data files involved in any NGS analysis that employs a reference genome, including how reads from a dataset are mapped, gene annotations, and predicted genetic variants.</p>
<p>http://www.broadinstitute.org/igv/</p><p>Address of the bookmark: <a href="https://wikis.utexas.edu/display/bioiteam/Integrative+Genomics+Viewer+%28IGV%29+tutorial" rel="nofollow">https://wikis.utexas.edu/display/bioiteam/Integrative+Genomics+Viewer+%28IGV%29+tutorial</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/38551/gupta-lab</guid>
  <pubDate>Sat, 29 Dec 2018 13:18:31 -0600</pubDate>
  <link></link>
  <title><![CDATA[Gupta Lab]]></title>
  <description><![CDATA[
<p>Work include (i) understanding the evolutionary relationships among different prokaryotic and eukaryotic organisms; (ii) Understanding the cellular functions of these lineage-specific signature proteins as well as lineage-specific conserved inserts and deletions in important housekeeping proteins by genetic and biochemical studies; (iii) Development of novel diagnostic methods (PCR based and immunological) for identification of different groups of organisms based upon these signature proteins and conserved indels; (iv) The use of these lineage-specific probes with predicitive ability to identify/explore the presence of different groups of organisms in metagenomic sequences from various environments.</p>

<p>https://fhs.mcmaster.ca/gupta-lab/index.html</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12963/cosmos-our-workflow-management-system-for-ngs-data</guid>
	<pubDate>Wed, 23 Jul 2014 07:29:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12963/cosmos-our-workflow-management-system-for-ngs-data</link>
	<title><![CDATA[COSMOS, our workflow management system for NGS data]]></title>
	<description><![CDATA[<p><strong>COSMOS</strong>, our Python-based management system for implementing large-scale parallel workflows focusing on, but not restricted to, large-scale short-read "NGS" sequencing data is open-access published via <a href="http://bioinformatics.oxfordjournals.org/content/early/2014/06/29/bioinformatics.btu385.abstract">Advance Access</a> in <em>Bioinformatics</em> (<a href="http://scholar.harvard.edu/lancaster/publications/cosmos-python-library-massively-parallel-workflows">Gafni et al. 2014</a>).&nbsp; It is also available for download for non-commercial academic and research purposes at:</p>
<p><strong>&nbsp;<a href="http://cosmos.hms.harvard.edu/">http://cosmos.hms.harvard.edu/</a></strong>.</p><p>Address of the bookmark: <a href="https://cosmos.hms.harvard.edu/" rel="nofollow">https://cosmos.hms.harvard.edu/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42794/tmrca-calculator</guid>
	<pubDate>Wed, 03 Feb 2021 05:07:30 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42794/tmrca-calculator</link>
	<title><![CDATA[TMRCA Calculator]]></title>
	<description><![CDATA[<p><span>This program calculates the probability that two people have a certain number of generations between them, based on the standard&nbsp;</span><em>infinite alleles</em><span>&nbsp;formula of Walsh. It calculates both the probability of being at an exact number of generations back to the Most Recent Common Ancestor (MRCA) of a certain pair of people and the cumulative probability that the actual number of generations is less than a certain value. Note that the convention using generations is changed from an earlier version of this calculator which used "transmission events". It can list both result types in a table or graph. In either case the horizontal axis stops at the point where the cumulative probability reaches 95% or 10 generations, whichever is longer, or an absolute max of 50,000. Beyond 90% the calculation becomes inaccurate.</span></p>
<p>https://clandonaldusa.org/index.php/tmrca-calculator</p><p>Address of the bookmark: <a href="https://clandonaldusa.org/index.php/tmrca-calculator" rel="nofollow">https://clandonaldusa.org/index.php/tmrca-calculator</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/43980/useful-link-to-teach-evolution</guid>
	<pubDate>Wed, 05 Oct 2022 18:29:30 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/43980/useful-link-to-teach-evolution</link>
	<title><![CDATA[Useful link to teach evolution !]]></title>
	<description><![CDATA[<pre>Mimicry and other resources
Mimicry games:
Great Heliconius game:
http://heliconius.org/evolving_butterflies/
(See also 
https://royalsocietypublishing.org/doi/10.1098/rspb.2020.0014)
Other one, a bit less friendly:
https://ccl.northwestern.edu/netlogo/models/Mimicry
Camouflage practical
https://alexis-catherine.github.io/publication/natural-selection-and-camouflage/
(NetLogo also has one: 
https://ccl.northwestern.edu/netlogo/models/BugHuntCamouflage)
Peppered moth game:
https://askabiologist.asu.edu/peppered-moths-game/play.html

General resources
The always popular Populus:
https://cbs.umn.edu/populus/overview
Drift &amp; Gene Flow 
https://cartwrig.ht/apps/genie/
(Cock van Oosterhout has a great ppt to lead students through this)
See also https://cartwrig.ht/apps/redlynx/
https://demonstrations.wolfram.com/ReplicatorMutatorDynamicsWithThreeStrategies/
NetLogo:
http://ccl.northwestern.edu/netlogo/models/index.cgi
Population Genetics:
https://www.radford.edu/~rsheehy/Gen_flash/popgen/
Evolution in general
https://evolution.berkeley.edu/evolibrary/home.php
Mitochondrial Eve:
https://projects.ncsu.edu/cals/gn/ex/mit-eve.html
Y chromosomes:
https://projects.ncsu.edu/cals/gn/ex/y-chrom.html
A professional online package from Michael Kasumovic:
https://arludo.com/
a compilation of resources:
https://planted.botany.org/index.php?P=Home
Finally, Donald Forsdyke has some great on-line videos explaining
evolutionary principles (occasionally in a fake Scottish accent):
http://post.queensu.ca/~forsdyke/videolectures.htm</pre>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/13276/senior-research-fellow-at-nit-rourkela</guid>
  <pubDate>Wed, 30 Jul 2014 00:53:13 -0500</pubDate>
  <link></link>
  <title><![CDATA[Senior Research Fellow at NIT, Rourkela]]></title>
  <description><![CDATA[
<p>NATIONAL INSTITUTE OF TECHNOLOGY, ROURKELA – 769 008(ORISSA)<br />SPONSORED RESEARCH, INDUSTRIAL CONSULTANCY &amp; CONTINUING EDUCATION</p>

<p>ADVERTISEMENT NO: NITR/SR/CH-BIF/2014/30</p>

<p>Applications are invited on prescribed format for the following assignment in a purely time bound research project undertaken in the Department of Biotechnology &amp; Medical Engineering of the Institute.</p>

<p>1. Name of the Temporary Post : Senior Research Fellow-01<br />2. Name of the Research Project: “ Bioinformatics Infrastructure Facility (BIF)”<br />3. Name of the Sponsoring Agency: DBT, Government of India, 4 Tenure of the Project : 12th Five year Plan<br />5 Tenure of the Assignment : 01 year [Likely to be extended for 04 more years]<br />6 Job Description : BIF Maintenance and Active Research in Bioinformatics<br />7. Consolidated monthly compensation / Fellowship: Rs.18,000/- P.M.</p>

<p>8. Essential Qualifications and experience: B.Tech with valid GATE Score or M.Tech degree in Biotechnology/Bioinformatics/Computer Science/Computational Biology<br />9. Desirable Qualifications/ Experiences: Experience of Programming in PERL,R, Python, Unix and Visual Studio + Knowledge in NGS data analysis work flows ,WGS and statistical packages such as CRAN-R,MATLAB etc.</p>

<p>10. Accommodation : Bachelor accommodation in the Institute may be provided subject to availability.<br />11. For technical information on the project, the candidate may contact the Principal Investigator at the following address:</p>

<p>Name : Prof. Mukesh K Gupta<br />Address : Dept. of Biotechnology &amp; Medical Engineering,<br />N.I.T.Rourkela-769 008<br />Telephone No : 0661-2462294<br />E-mail : guptam@nitrkl.ac.in</p>

<p>Eligible persons may apply in the prescribed format (available in the Institute Website)affixed with coloured photographs to be submitted in duplicate along with photo copies of relevant certificates, grade/ mark sheets, publications etc., to Asst. Registrar, SRICCE,<br />National Institute of Technology, Rourkela–769 008 before 22.08.2014. The cover should be super- scribed clearly the post applied for &amp; Name of the Project.</p>

<p>Mere possession of minimum qualification does not guarantee invitation to the interview.<br />Candidates will be short listed based on merit and need of the project.</p>

<p>Advertisement:</p>

<p>http://www.nitrkl.ac.in/IntraWeb/Jobs_Tenders/Jobs/ProjectFellowship/2014/141707192838_1.pdf</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>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/13510/studentship-and-traineeship-in-bioinformatics-at-barkatullah-university-bhopal</guid>
  <pubDate>Thu, 07 Aug 2014 16:57:00 -0500</pubDate>
  <link></link>
  <title><![CDATA[Studentship and Traineeship in Bioinformatics at Barkatullah University, Bhopal]]></title>
  <description><![CDATA[
<p>Department of Biotechnology &amp; Bioinformatics Center<br />Barkatullah University, Bhopal – 462 026</p>

<p>Studentship and Traineeship in Bioinformatics</p>

<p>Applications are invited on plain paper from suitable candidates for Studentship and Traineeship (One each) at Bioinformatics Sub-Center as detailed below:</p>

<p>1. Studentship: Studentship is for those who have completed M. Sc. Degrees in Life Science.</p>

<p>Number of seats : One</p>

<p>Duration : Six months</p>

<p>Eligibility : Passed M.Sc. degree in Life Sciences.</p>

<p>Fellowship : Rs. 5000/- (Five thousand only) per month</p>

<p>2. Traineeship: Traineeship is for those who have completed M. Sc. Degrees in Life Science/Registered Ph. D. student in Life Sciences.</p>

<p>Number of seats : One</p>

<p>Duration : Six months</p>

<p>Eligibility : Passed M.Sc. degree in Life Sciences/ Registered Ph. D. student in Life Sciences</p>

<p>Fellowship : Rs. 5000/- (Five thousand only) per month</p>

<p>Preferences will be given to person who has experience in Bioinformatics and Computer<br />sciences. The application along with detailed bio-data should reach the undersigned, on or before 25th August 2014. Both, the studentship and the traineeship are temporary, will be discontinued after the six months from the date of Joining. It may be discontinued in-between without any notice, if the work is not found satisfactory.</p>

<p>Advertisement www.bioinfobubpl.nic.in/Advertisement_st.pdf</p>
]]></description>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/857/smyth-lab</guid>
  <pubDate>Sun, 14 Jul 2013 12:26:18 -0500</pubDate>
  <link></link>
  <title><![CDATA[Smyth Lab]]></title>
  <description><![CDATA[
<p>Statistical functional genomics in experimental medicine<br />The genome projects and the accelerated development of high-throughput genomic technologies such as microarrays have revolutionised biology. Making the most of this revolution requires the marriage of researchers from mathematical and biological backgrounds.</p>

<p>Research Area:<br />Linear models for microarray data<br />Digital gene expression technologies<br />Detection of molecular pathways<br />Bioinformatics resources for medical research</p>

<p>Link @ http://www.wehi.edu.au/faculty_members/professor_gordon_smyth/</p>
]]></description>
</item>

</channel>
</rss>