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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/43110?offset=480</link>
	<atom:link href="https://bioinformaticsonline.com/related/43110?offset=480" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/40957/multiple-phd-positions</guid>
  <pubDate>Sun, 09 Feb 2020 03:10:28 -0600</pubDate>
  <link></link>
  <title><![CDATA[Multiple PhD positions]]></title>
  <description><![CDATA[
<p>14 PhD positions in the EU Horizon 2020 Marie Skłodowska-Curie Project PRECODE:<br />International training network which sets a joint research programme to train a new generation of leading scientists in model systems and methods for the development of new therapies for pancreatic cancer (PaCa)</p>

<p>http://precode-project.eu/jobs-board/#1572451761376-39d75f63-c6fb</p>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/2518/genome-browsers</guid>
	<pubDate>Fri, 16 Aug 2013 19:04:47 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/2518/genome-browsers</link>
	<title><![CDATA[Genome Browsers]]></title>
	<description><![CDATA[<p>Genome Browser is the platform/database used for searching and retreiving sequences and annotation of genomes belong to various eukaryotes, prokaryotes, etc.</p><p>Following are the weblink for different available browsers:</p><p><a href="http://www.ensembl.org/index.html">http://www.ensembl.org/index.html</a></p><p><a href="http://ensemblgenomes.org/">http://ensemblgenomes.org/</a></p><p><a href="http://genome.ucsc.edu/">http://genome.ucsc.edu/</a></p><p><a href="http://www.ncbi.nlm.nih.gov/genome">http://www.ncbi.nlm.nih.gov/genome</a></p><p><a href="http://www.ebi.ac.uk/genomes/">http://www.ebi.ac.uk/genomes/</a></p><p><a href="http://flybase.org/">http://flybase.org/</a></p><p><a href="http://cmr.jcvi.org/tigr-scripts/CMR/CmrHomePage.cgi">http://cmr.jcvi.org/tigr-scripts/CMR/CmrHomePage.cgi</a></p><p><a href="http://www.sanger.ac.uk/resources/databases/">http://www.sanger.ac.uk/resources/databases/</a></p>]]></description>
	<dc:creator>Rahul Agarwal</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/26432/summer-2016</guid>
  <pubDate>Sun, 21 Feb 2016 06:17:55 -0600</pubDate>
  <link></link>
  <title><![CDATA[Summer 2016]]></title>
  <description><![CDATA[
<p>REU at Fordham University- Summer 2016</p>

<p>An NSF-funded REU to study Y-chromosome diversity and sex-biased dispersal in wild brown rats (Rattus norvegicus) is available in the Munshi-South Lab at Fordham University. Our lab is currently investigating rat evolution at scales ranging from landscape genetics of individual cities to global patterns of diversity. Development of resources for investigating Y-chromosome diversity will support many of these studies. The REU student will work with the lab to bioinformatically identify Y-chromosome SNPs, design SNPtype assays,<br />extract DNA, genotype samples, and analyze data.</p>

<p>We seek applicants interested in bioinformatics, evolutionary biology, and related disciplines.  Applicants must have taken a college-level genetics course.  This REU will require attention to detail, reliability, independence, and critical thinking.</p>

<p>This position is based at Fordham University's field station, the Louis Calder Center, in Armonk, NY. The Calder Center is located approximately 25 miles north of New York City in a protected woodland area. Housing<br />will be provided at the Calder Center for the duration of the REU (May 23 to Aug 12, 2016). Additionally, the student will receive a $6,000 stipend. The selected student will participate in professional development activities through the Calder Centers REU program, including presentation of results at a research colloquium at the end of the summer.</p>

<p>To apply, please send a one page personal statement about your scientific interests and how this REU will support your professional goals, unofficial transcripts including a list of Spring 2016 courses, and names of two professional references (including title, address, phone number, and email address) as a single pdf (with your last name in the file name) to Dr. Jason Munshi-South (jmunshisouth@fordham.edu).</p>

<p>Applications are due March 4th, 2016.</p>

<p>Jason Munshi-South</p>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44865/snp-analysis-unlocking-the-secrets-in-our-dna</guid>
	<pubDate>Wed, 16 Jul 2025 01:31:45 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44865/snp-analysis-unlocking-the-secrets-in-our-dna</link>
	<title><![CDATA[SNP Analysis: Unlocking the Secrets in Our DNA]]></title>
	<description><![CDATA[<p>Single Nucleotide Polymorphisms (SNPs) are the most common type of genetic variation in humans&mdash;and many other organisms. A single base change in the DNA sequence (for example, an A instead of a G) can influence everything from our eye color to our risk of developing diseases. Analyzing these tiny changes has become central to modern genetics, medicine, agriculture, and evolutionary biology.</p><p><strong>What are SNPs?</strong><br />SNPs (pronounced "snips") are positions in the genome where individuals differ by a single nucleotide. For example:</p><p>Reference: ...A T G C A T G A...<br />Variant:&nbsp; &nbsp; &nbsp;...A T G T A T G A...</p><p>Here, the C in the reference genome has been replaced by a T in the variant.</p><p>SNPs occur roughly every 300&ndash;1,000 bases in the human genome, meaning there are millions of them scattered throughout our DNA. Most SNPs have no effect on health, but some are linked to disease susceptibility, drug response, and other traits.</p><p><strong>Why Do We Analyze SNPs?</strong><br />1. Medical Genetics</p><p>Identify disease-associated variants (e.g., BRCA1/2 in breast cancer).</p><p>Predict drug response (pharmacogenomics).</p><p>Enable precision medicine by tailoring treatments.</p><p>2. Population Genetics &amp; Ancestry</p><p>Trace human migration and ancestry.</p><p>Study genetic diversity within and between populations.</p><p>3. Agriculture &amp; Animal Breeding</p><p>Select for desirable traits (drought resistance, yield, disease resistance).</p><p>Improve breeding efficiency in livestock.</p><p>4. Evolutionary Biology</p><p>Track natural selection.</p><p>Study adaptation in wild populations.</p><p><strong>How is SNP Analysis Performed?</strong><br />SNP analysis can be broadly divided into three steps:</p><p>SNP Detection<br />Genotyping arrays: Chips that test hundreds of thousands of known SNP positions simultaneously. Fast and affordable, widely used in consumer ancestry testing.</p><p>Whole-genome or whole-exome sequencing: Can detect known and novel SNPs across the genome.</p><p>Targeted sequencing or PCR: For focused analysis of specific regions.</p><p>Variant Calling<br />Sequencing data is aligned to a reference genome. Bioinformatics tools (e.g., GATK, bcftools) identify positions where the sequenced sample differs from the reference.</p><p>Annotation and Interpretation<br />Tools (e.g., SnpEff, VEP) predict the functional impact of SNPs.</p><p>Are the SNPs in coding regions? Do they cause amino acid changes? Are they known to be pathogenic?</p><p>Databases like dbSNP, ClinVar, and GWAS Catalog provide information on known associations.</p><p>Common Tools for SNP Analysis<br />Alignment: BWA, Bowtie2</p><p>Variant Calling: GATK, FreeBayes</p><p>Visualization: IGV, UCSC Genome Browser</p><p>Annotation: SnpEff, VEP</p><p>Statistical Analysis: PLINK, SNPTEST</p><p><strong>Challenges in SNP Analysis</strong><br />False positives/negatives: Sequencing errors, alignment issues.</p><p>Population stratification: Confounding in association studies.</p><p>Interpretation: Many SNPs have unknown or complex effects.</p><p>Researchers address these with rigorous quality control, large datasets, and increasingly sophisticated statistical models.</p><p><strong>The Future of SNP Analysis</strong><br />With advances in sequencing technology and AI-driven analysis, SNP studies are expanding:</p><p>Polygenic risk scores predict disease risk based on thousands of SNPs.</p><p>Large-scale biobanks (e.g., UK Biobank, All of Us) enable powerful genome-wide association studies (GWAS).</p><p>CRISPR and functional assays help validate SNP effects in the lab.</p><p>SNP analysis is at the heart of the genomic revolution, promising insights into biology, health, and evolution at unprecedented scale.</p><p><strong>Conclusion</strong><br />From diagnosing rare diseases to designing better crops, SNP analysis is a foundational tool in modern science. As our ability to sequence and interpret genomes improves, so will our understanding of these tiny&mdash;but mighty&mdash;variations in DNA.</p><p>&nbsp;</p>]]></description>
	<dc:creator>Abhi</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40705/malva-genotyping-by-mapping-free-allele-detection-of-known-variants</guid>
	<pubDate>Tue, 28 Jan 2020 03:39:22 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40705/malva-genotyping-by-mapping-free-allele-detection-of-known-variants</link>
	<title><![CDATA[MALVA: Genotyping by Mapping-free ALlele Detection of Known VAriants]]></title>
	<description><![CDATA[<p id="p0010">MALVA is able to genotype multi-allelic SNPs and indels without mapping reads</p>
<p id="p0015">MALVA calls correctly more indels than the most widely adopted genotyping pipelines</p>
<p id="p0020">Mapping-free approaches are as accurate as alignment-based ones, while being faster</p>
<p>More at&nbsp;<a href="https://www.sciencedirect.com/science/article/pii/S2589004219302366">https://www.sciencedirect.com/science/article/pii/S2589004219302366</a></p>
<p><a href="https://www.sciencedirect.com/science/article/pii/S2589004219302366">https://www.sciencedirect.com/science/article/pii/S2589004219302366</a></p><p>Address of the bookmark: <a href="https://github.com/AlgoLab/malva" rel="nofollow">https://github.com/AlgoLab/malva</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41222/best-practices-for-variant-calling-with-the-gatk</guid>
	<pubDate>Sat, 22 Feb 2020 03:07:31 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41222/best-practices-for-variant-calling-with-the-gatk</link>
	<title><![CDATA[Best Practices for Variant Calling with the GATK]]></title>
	<description><![CDATA[<p>The presentations below were filmed during the March 2015 GATK Workshop, part of the BroadE Workshop series. At the time of this workshop, the current version of Broad&rsquo;s Genome Analysis Toolkit (GATK) was version 3.3.</p>
<div>
<div>
<div>
<div>
<div>
<div>
<div>
<div>
<div>
<ul>
<li><a href="https://software.broadinstitute.org/gatk/">Genome Analysis Toolkit</a></li>
</ul>
</div>
</div>
</div>
</div>
</div>
</div>
</div>
</div>
</div>
<table>
<tbody style="vertical-align: top;">
<tr>
<td>03/19/15</td>
<td>Introduction to High-Throughput Sequencing data formats and methods</td>
<td>Joel Thibault</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeY3g1M1ZjVjFrZ2s/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6696">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Introduction to the GATK</td>
<td>Geraldine Van der Auwera</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeVEJ1Z1pXUF9Ib3M/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6707">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Mapping, processing, and duplicate marking with Picard tools</td>
<td>Matt Sooknah</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeaGVrbE1GVV9SQkE/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6706">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Mapping and processing RNAseq</td>
<td>Ami Levy-Moonshine</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeLUkwUm5vTGl4bG8/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6705">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Indel realignment</td>
<td>Mark Fleharty</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeLTFzNndsNDBuVms/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6704">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Base quality score recalibration</td>
<td>David Roazen</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeZk1rMXpTYmZzTXc/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6703">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Introduction to variant discovery: calling cohorts</td>
<td>Louis Bergelson</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeQUFYUFRmM1hhRUE/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6702">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Variant calling and joint genotyping</td>
<td>Sheila Chandran</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeYzVTUGs0bjM3M1E/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6701">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Variant quality score recalibration</td>
<td>Bertrand Haas</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeSEpwRkNVQm4wdkE/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6700">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Introduction to working with variants</td>
<td>Yossi Farjoun</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWec0NqUTN2WTRuWWs/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6699">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Genotype refinement</td>
<td>Laura Gauthier</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeMzFldVF5SUp4dWM/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6698">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Annotation and variant evaluation</td>
<td>David Benjamin</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeWi1YMm42bWdpRE0/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6697">Video</a></td>
</tr>
</tbody>
</table><p>Address of the bookmark: <a href="https://www.broadinstitute.org/partnerships/education/broade/best-practices-variant-calling-gatk-1" rel="nofollow">https://www.broadinstitute.org/partnerships/education/broade/best-practices-variant-calling-gatk-1</a></p>]]></description>
	<dc:creator>biogeek</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38004/vcfr-a-package-to-manipulate-and-visualize-vcf-data-in-r</guid>
	<pubDate>Thu, 25 Oct 2018 09:05:59 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38004/vcfr-a-package-to-manipulate-and-visualize-vcf-data-in-r</link>
	<title><![CDATA[vcfR:  a package to manipulate and visualize VCF data in R]]></title>
	<description><![CDATA[<p><span>VcfR is an R package intended to allow easy manipulation and visualization of variant call format (VCF) data. Functions are provided to rapidly read from and write to VCF files. Once VCF data is read into R a parser function extracts matrices from the VCF data for use with typical R functions. This information can then be used for quality control or other purposes. Additional functions provide visualization of genomic data. Once processing is complete data may be written to a VCF file or converted into other popular R objects (e.g., genlight, DNAbin). VcfR provides a link between VCF data and the R environment connecting familiar software with genomic data.</span></p><p>Address of the bookmark: <a href="https://github.com/knausb/vcfR" rel="nofollow">https://github.com/knausb/vcfR</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41730/parliament2-runs-a-combination-of-tools-to-generate-structural-variant-calls-on-whole-genome-sequencing-data</guid>
	<pubDate>Thu, 28 May 2020 21:57:03 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41730/parliament2-runs-a-combination-of-tools-to-generate-structural-variant-calls-on-whole-genome-sequencing-data</link>
	<title><![CDATA[Parliament2: Runs a combination of tools to generate structural variant calls on whole-genome sequencing data]]></title>
	<description><![CDATA[<p>Parliament2 identifies structural variants in a given sample relative to a reference genome. These structural variants cover large deletion events that are called as Deletions of a region, Insertions of a sequence into a region, Duplications of a region, Inversions of a region, or Translocations between two regions in the genome.</p>
<p>Parliament2 runs a combination of tools to generate structural variant calls on whole-genome sequencing data. It can run the following callers: Breakdancer, Breakseq2, CNVnator, Delly2, Manta, and Lumpy. Because of synergies in how the programs use computational resources, these are all run in parallel. Parliament2 will produce the outputs of each of the tools for subsequent investigation.</p><p>Address of the bookmark: <a href="https://github.com/dnanexus/parliament2" rel="nofollow">https://github.com/dnanexus/parliament2</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/1471/24-mb-genome-size-for-worlds-biggest-virus</guid>
	<pubDate>Thu, 08 Aug 2013 10:05:37 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/1471/24-mb-genome-size-for-worlds-biggest-virus</link>
	<title><![CDATA[2.4 Mb Genome Size for World's Biggest Virus]]></title>
	<description><![CDATA[<p>The genome size of new discovered Pandoraviruses have roughly twice the size of the record-holding Megavirus genomic code. Interestingly only 6 percent of its genes resembled the genes other organisms. It is assume that it may come from a different origin.</p><p>For detail : http://www.sciencemag.org/content/341/6143/281</p><p>http://www.npr.org/blogs/health/2013/07/18/203298244/worlds-biggest-virus-may-have-ancient-roots</p><p>&nbsp;</p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/13852/ebola-virus-disease-evdor-ebola-haemorrhagic-fever</guid>
	<pubDate>Sun, 10 Aug 2014 13:08:13 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/13852/ebola-virus-disease-evdor-ebola-haemorrhagic-fever</link>
	<title><![CDATA[Ebola virus disease (EVD)or Ebola haemorrhagic fever !!!]]></title>
	<description><![CDATA[<p>Ebola virus disease (EVD)or Ebola haemorrhagic fever is a severe and often deadly illness in humans, caused by the Ebola virus. The disease has high mortality rate, killing upto 90% of people who are infected.</p><p><img src="http://s4.reutersmedia.net/resources/r/?m=02&amp;d=20140808&amp;t=2&amp;i=959839176&amp;w=580&amp;fh=&amp;fw=&amp;ll=&amp;pl=&amp;r=LYNXMPEA770BX" width="580" height="452" alt="image" style="border: 0px;"></p><p><br />The ongoing 2014 West Africa Ebola outbreak is considered to be the largest and longest outbreak ever recorded of Ebola, killing at least 932 people and infecting more than 1,700 till date since March in Sierra Leone, Guinea, Nigeria and Liberia.<br /><br />Hence, the World Health Organisation (WHO) on 8 August, 2014 declared the killer Ebola epidemic ravaging parts of West Africa an international health emergency.<br /><br />Causes<br /><br />EVD is caused by infection with a virus of the family Filoviridae, genus Ebolavirus. While there are five identified sub-species of Ebolavirus, four viruses cause disease in humans. They are Bundibugyo virus (BDBV), Ebola virus (EBOV), Sudan virus (SUDV), Ta&iuml; Forest virus (TAFV).<br /><br />The fifth virus, Reston virus (RESTV), is not considered to be disease-causing in humans.<br /><br />According to WHO, EVD first appeared in 1976 in two simultaneous outbreaks, in Nzara, Sudan, and in Yambuku, Democratic Republic of Congo. The latter was in a village situated near the Ebola River from which the disease takes its name.</p><p>How does it spread?<br /><br />It is still unclear how Ebola spreads. However, it is believed that the first pateint becomes infected through contact with an infected animal's body fluids.<br /><br />Human-to-human transmission can occur through direct contact with blood, organs or other body fluids of infected people or exposure to objects such as needles and syringes that have been contaminated with infected secretions.<br /><br />Ebola can also be transmitted from men who have recovered from the disease through semen as it is infectious for up to 7 weeks.<br /><br />Infected dead bodies can spread Ebola as they are still infectious. So mourners who have direct contact with the body of deceased person can also get the disease.<br /><br />Who is most at risk?<br /><br />Health-care workers who do not wear appropriate protective clothing and family members who are in close contact with infected people or deceased patients.<br /><br />Signs and symptoms:<br /><br />Symptoms may occur between 2 and 21 days after contracting the infection. Common signs of Ebola include:</p><p><img src="https://scontent-b-sin.xx.fbcdn.net/hphotos-xap1/t1.0-9/p720x720/10494629_873450929332827_3274653669306581755_n.jpg" width="720" height="720" alt="image" style="border: 0px;"></p><p>Fever<br /><br />Headache<br /><br />Muscle, abdominal and joint pain<br /><br />Sore throat<br /><br />Weakness<br /><br />Diarrhea<br /><br />Vomit or cough up blood<br /><br />Chest pain<br /><br />Difficulty in breathing and swallowing<br /><br />Rash<br /><br />Hiccups<br /><br />Bleeding inside and outside the body<br /><br />Prevention<br /><br />Currently there is no vaccine available for humans. But the infection can be controlled through the use of recommended protective measures such as:<br /><br />Avoid contacting infected blood or secretions, including from those who are dead .<br /><br />Using standard precautions for all patients in the healthcare setting.<br /><br />Sterilizing equipment, and wearing protective clothing including masks, gloves, gowns and goggles.<br /><br />Washing your hands with soaps or detergents.<br /><br />Disinfecting your surroundings.<br /><br />Isolate people who have Ebola symptoms.<br /><br />Culling of infected animals, with close supervision of burial or incineration of carcasses.<br /><br />Yet, not travelling to the areas or countries where the virus is found is the best way to avoid Ebola.</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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