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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/14191?offset=1040</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/36373/tools-to-predict-the-impact-of-missense-variants</guid>
	<pubDate>Mon, 23 Apr 2018 12:57:33 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/36373/tools-to-predict-the-impact-of-missense-variants</link>
	<title><![CDATA[Tools to Predict the Impact of Missense Variants !]]></title>
	<description><![CDATA[<p><span>Prioritizing missense variants for further experimental investigation is a key challenge in current sequencing studies for exploring complex and Mendelian diseases. A large number of&nbsp;</span><em>in silico</em><span>&nbsp;tools have been employed for the task of pathogenicity prediction, including PolyPhen‐2, SIFT, FatHMM, MutationTaster‐2, MutationAssessor, Combined Annotation Dependent Depletion, LRT, phyloP, and GERP++, as well as optimized methods of combining tool scores, such as Condel and Logit. Due to the wealth of these methods, an important practical question to answer is which of these tools generalize best, that is, correctly predict the pathogenic character of new variants. </span></p><p><span>Study of 10 tools on five datasets that such a comparative evaluation of these tools is hindered by two types of circularity: they arise due to (1) the same variants or (2) different variants from the same protein occurring both in the datasets used for training and for evaluation of these tools, which may lead to overly optimistic results. Comparative evaluations of predictors that do not address these types of circularity may erroneously conclude that circularity confounded tools are most accurate among all tools, and may even outperform optimized combinations of tools.</span></p><p><span>Following tools are useful for mis sense muation detection ...&nbsp;</span></p><p>PolyPhen‐2 (PP2)<br />&ldquo;Predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations&rdquo;</p><p>MutationTaster‐2 (MT2)<br />&ldquo;Evaluation of the disease‐causing potential of DNA sequence alterations&rdquo;</p><p>MutationAssessor (MASS)<br />&ldquo;Predicts the functional impact of amino acid substitutions in proteins, such as mutations discovered in cancer or missense polymorphisms&rdquo;</p><p>LRT<br />&ldquo;Identify a subset of deleterious mutations that disrupt highly conserved amino acids within protein‐coding sequences, which are likely to be unconditionally deleterious&rdquo;</p><p>SIFT<br />&ldquo;Predicts whether an amino acid substitution affects protein function&rdquo;</p><p>GERP++<br />&ldquo;Identifies constrained elements in multiple alignments by quantifying substitution deficits. These deficits represent substitutions that would have occurred if the element were neutral DNA, but did not occur because the element has been under functional constraint. We refer to these deficits as &ldquo;rejected substitutions.&rdquo; Rejected substitutions are a natural measure of constraint that reflects the strength of past purifying selection on the element&rdquo;</p><p>phyloP<br />&ldquo;Compute conservation or acceleration P values based on an alignment and a model of neutral evolution&rdquo;</p><p>FatHMM unweighted (FatHMM‐U)<br />Predicts &ldquo;functional consequences of both coding variants, that is, nonsynonymous single‐nucleotide variants, and noncoding variants&rdquo;</p><p>FatHMM weighted (FatHMM‐W)<br />Predicts &ldquo;functional consequences of both coding variants, that is, nonsynonymous single‐nucleotide variants, and noncoding variants&rdquo; and its weighting scheme attributes higher tolerance scores to SNVs in proteins, related proteins, or domains that already include a high fraction of pathogenic variantsh</p><p>Combined Annotation Dependent Depletion (CADD)<br />&ldquo;CADD is a tool for scoring the deleteriousness of single‐nucleotide variants as well as insertion/deletions variants in the human genome&rdquo;</p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/19090/deeptools</guid>
	<pubDate>Sat, 08 Nov 2014 15:02:08 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/19090/deeptools</link>
	<title><![CDATA[deepTools]]></title>
	<description><![CDATA[<p>deepTools addresses the challenge of handling the large amounts of data that are now routinely generated from DNA sequencing centers. To do so, deepTools contains useful modules to process the mapped reads data to create coverage files in standard bedGraph and bigWig file formats. By doing so, deepTools allows the creation of normalized coverage files or the comparison between two files (for example, treatment and control). Finally, using such normalized and standardized files, multiple visualizations can be created to identify enrichments with functional annotations of the genome.<br /><br />Publicaton: http://nar.oxfordjournals.org/content/early/2014/05/05/nar.gku365.full<br /><br />Source Code and Wiki: https://github.com/fidelram/deepTools/wiki<br /><br />Galaxy Tool Shed repository: http://toolshed.g2.bx.psu.edu/view/bgruening/deeptools<br /><br />and example Galaxy workflows: http://toolshed.g2.bx.psu.edu/view/bgruening/deeptools_workflows</p>]]></description>
	<dc:creator>Martin Jones</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36806/manta-rapid-detection-of-structural-variants-and-indels-for-germline-and-cancer-sequencing-applications</guid>
	<pubDate>Mon, 28 May 2018 09:41:39 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36806/manta-rapid-detection-of-structural-variants-and-indels-for-germline-and-cancer-sequencing-applications</link>
	<title><![CDATA[Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.]]></title>
	<description><![CDATA[Manta calls structural variants (SVs) and indels from mapped paired-end sequencing reads. It is optimized for analysis of germline variation in small sets of individuals and somatic variation in tumor/normal sample pairs. Manta discovers, assembles and scores large-scale SVs, medium-sized indels and large insertions within a single efficient workflow.<p>Address of the bookmark: <a href="https://github.com/Illumina/manta" rel="nofollow">https://github.com/Illumina/manta</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19161/niab-molecular-biologybioinformatics-scientistra-openings</guid>
  <pubDate>Thu, 13 Nov 2014 13:37:27 -0600</pubDate>
  <link></link>
  <title><![CDATA[NIAB Molecular Biology/Bioinformatics Scientist/RA Openings]]></title>
  <description><![CDATA[
<p>D. No. 1-121/1, 4th and 5th Floors, Axis Clinicals Building, Miyapur, Hyderabad, Telangana, India- 500 049</p>

<p>Email: admin@niab.org.in Telephones: +91 40 2304 9403 Telefax: +91 40 2304 2740<br />Advertisement No: 5/2014</p>

<p>About NIAB National Institute of Animal Biotechnology (NIAB), Hyderabad, an autonomous institute under the aegis of Department of Biotechnology, Government of India, is aimed to harness novel and emerging biotechnologies and create knowledge in the cutting edge areas for improving animal health and productivity.</p>

<p>Applications are invited for the following temporary research positions to work in ongoing DBTBBSRC sponsored research project entitled “Transcriptome Analysis in Indian buffalo and the Genetics of Innate Immunity” at the National Institute of Animal Biotechnology, Hyderabad.</p>

<p>(A) Project Scientist – Level B (One Position)</p>

<p>Emoluments: Rs. 15600 + GP Rs. 5400 + 30 % HRA p.m. (Total emoluments will be Rs. 49,770/-p.m. for the duration of the project)</p>

<p>Essential Qualification: Candidates having M.V.Sc. in Veterinary Microbiology / Veterinary Pathology / Veterinary Public Health / Ph.D. degree in Life Sciences, Biotechnology, Molecular Biology or any other related field from the recognized university are eligible to apply.</p>

<p>The candidate should have a good academic record and research experience as evidenced from published in standard referred journals / patents.</p>

<p>Desirable: Candidates having research experience in the area of tissue culture, genomics, Transcriptomics and Advanced Molecular Biology will be given preference.</p>

<p>Age Limit: Not exceeding 30 years as on last date of the submission of the application.</p>

<p>(B) Research Associate in Bioinformatics (One position)</p>

<p>Fellowship: Rs. 22,000 + 30 % HRA</p>

<p>Essential Qualification: Candidates having Ph.D. degree or M.Tech. with three years of<br />experience in Bioinformatics, Computational Biology, Biotechnology, Life Sciences or any other related field are eligible to apply.</p>

<p>Desirable: Candidate having research experience in the area of next generation sequencing (NGS) data analysis, Genome wide association studies, Genomic selection, advance genomic data analysis etc., will be given preference. The candidate should have a good academic record and research experience as evidenced from published papers in standard journals / patents.</p>

<p>Age Limit: Not exceeding 30 years as on last date of the submission of the application.</p>

<p>Project Duration: The duration of the project is Three years and the positions are co- terminus with the duration of the project. (Initial appointment will be for one year and further extension will be granted based on annual review).</p>

<p>Mode of submission of application: Only online applications are to be submitted through<br />www.niab.org.in on or before 08 December, 2014. Link for online submission of applications will be available from 10 November 2014.</p>

<p>Advertisement: www.niab.org.in/Notifications/Advt_5_2014/Advt_5_2014.pdf</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39236/causel-an-epigenome-and-genome-editing-pipeline-for-establishing-function-of-noncoding-gwas-variants</guid>
	<pubDate>Tue, 09 Apr 2019 07:23:37 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39236/causel-an-epigenome-and-genome-editing-pipeline-for-establishing-function-of-noncoding-gwas-variants</link>
	<title><![CDATA[CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants]]></title>
	<description><![CDATA[<p><span>Validated a widely accessible approach that can be used to establish functional causality for noncoding sequence variants identified by GWASs.</span></p>
<p><a href="https://www.nature.com/articles/nm.3975">https://www.nature.com/articles/nm.3975</a></p><p>Address of the bookmark: <a href="https://www.nature.com/articles/nm.3975" rel="nofollow">https://www.nature.com/articles/nm.3975</a></p>]]></description>
	<dc:creator>BioJoker</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19249/bioinformatics-jrfrasrf-position-at-panjab-university</guid>
  <pubDate>Wed, 19 Nov 2014 20:19:49 -0600</pubDate>
  <link></link>
  <title><![CDATA[Bioinformatics JRF/RA/SRF position at PANJAB UNIVERSITY]]></title>
  <description><![CDATA[
<p>CENTRE FOR SYSTEMS BIOLOGY &amp; BIOINFORMATICS<br />UIEAST, PANJAB UNIVERSITY, CHANDIGARH</p>

<p>Applications are invited along with complete bio-data and attested copies of certificates of qualifications, experience etc. for the one post of Research Fellow and one post of Program Assistant under PURSE Grant of the University in Centre for Systems Biology &amp; Bioinformatics, UIEAST, Panjab University, Chandigarh which is tenable till the period of<br />the project.</p>

<p>Essential Qualification</p>

<p>For Research Fellow:-</p>

<p>M.Sc. in Systems Biology and Bioinformatics / Life Sciences with minimum 55% marks.</p>

<p>Preference will be given to NET/GATE/ICMR qualified candidates without fellowship however, candidates who have cleared the Panjab University Ph.D. entrance test in Systems Biology &amp; Bioinformatics will also be eligible.</p>

<p>For Program Assistant:-</p>

<p>The candidate must have M.Sc./M.Tech/MCA/PGDCA in Computer Science and must be able to handle LAN, Linex. Preference will be given to the candidate having experience in<br />System Administration.</p>

<p>Emoluments</p>

<p>For Research Fellow Rs. 12,500/- per month (Fixed)<br />For Program Assistant Rs. 12,500/- per month (Fixed)</p>

<p>Applications should be reach on or before 19-11-2014 in the office of the undersigned.</p>

<p>Interview will be held on 21-11-2014 in the office of the Coordinator, Centre for Systems Biology &amp; Bioinformatics, South Campus, Block-3, Sector-25, Panjab University, Chandigarh. No TA/DA will be paid.</p>

<p>Advertisement:</p>

<p>http://jobs.puchd.ac.in/includes/jobs/2014/20141110143634-Advertisement.pdf</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43904/jasmine-jointly-accurate-sv-merging-with-intersample-network-edges</guid>
	<pubDate>Sat, 02 Jul 2022 11:41:53 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43904/jasmine-jointly-accurate-sv-merging-with-intersample-network-edges</link>
	<title><![CDATA[JASMINE: Jointly Accurate Sv Merging with Intersample Network Edges]]></title>
	<description><![CDATA[<p><span>This tool is used to merge structural variants (SVs) across samples. Each sample has a number of SV calls, consisting of position information (chromosome, start, end, length), type and strand information, and a number of other values. Jasmine represents the set of all SVs across samples as a network, and uses a modified minimum spanning forest algorithm to determine the best way of merging the variants such that each merged variants represents a set of analogous variants occurring in different samples.</span></p><p>Address of the bookmark: <a href="https://github.com/mkirsche/Jasmine" rel="nofollow">https://github.com/mkirsche/Jasmine</a></p>]]></description>
	<dc:creator>Shruti Paniwala</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19541/bioinformatics-sub-dic-dic</guid>
  <pubDate>Fri, 12 Dec 2014 21:14:57 -0600</pubDate>
  <link></link>
  <title><![CDATA[Bioinformatics SUB DIC (DIC)]]></title>
  <description><![CDATA[
<p>Project Title BIOINFORMATICS SUB DIC (DIC)</p>

<p>Reference Number IIT/SRIC/R/DIC/2014/314, DATED 28thNovember, 2014</p>

<p>Temporary Position(s)</p>

<p>i) Junior/ Senior Project Officer (1)<br />ii) Junior Project Assistant (2)</p>

<p>Consolidated Compensation</p>

<p>i) Rs.16,000/- to Rs.18,000/- p.m. (depending on qualification &amp; experience)<br />ii) Rs.8,000/- to Rs.10,000/- p.m. (depending on qualification &amp; experience)</p>

<p>Coordinator / PI Dr. Sudip K. Ghosh, Dept of Biotechnology.</p>

<p>Department / Centre / School Dept of Biotechnology </p>

<p>Qualifications &amp; Experience</p>

<p>(i) M. Sc in any branch of Life Sciences with experience in Molecular  Biology/Genetics/Biochemistry preferably a Post Graduate diploma in Bioinformatics or two years working experience in bioinformatics (Minimum 60% marks starting from matriculation examination).</p>

<p>(ii) B. Sc. /B.A. /B. Com/Diploma in Management or Computer Science. Knowledge in computer software will be preferred (minimum 50% marks starting from matriculation examination).</p>

<p>More Information</p>

<p>Interested eligible persons may apply on plain paper, giving full bio-data along with attested copies of testimonials to the undersigned on or before 11thDecember, 2014. </p>

<p>Sponsor DBT, NEW DELHI</p>

<p>Last Date 11 Dec 2014</p>

<p>Application Fee Demand Draft for Rs.50/- (Not for female candidates) drawn in favour of IIT Kharagpur payable at Kharagpur</p>

<p>Advertisement: www.iitkgp.ac.in/topfiles/sric_job_details.php?serial=2826</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/19631/rosalind-bioinformatics-problems</guid>
	<pubDate>Thu, 18 Dec 2014 10:32:48 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/19631/rosalind-bioinformatics-problems</link>
	<title><![CDATA[Rosalind Bioinformatics problems !!!]]></title>
	<description><![CDATA[<p>Rosalind is a platform for learning bioinformatics and programming through problem solving. <a href="http://rosalind.info/problems/list-view/">Take a tour</a> to get the hang of how Rosalind works.</p>
<p>http://rosalind.info/problems/list-view/</p><p>Address of the bookmark: <a href="http://rosalind.info/problems/list-view/" rel="nofollow">http://rosalind.info/problems/list-view/</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19580/internship-program-for-bioinformatics-biotechnology-mba-mca-no-of-vacancy-5</guid>
  <pubDate>Mon, 15 Dec 2014 08:11:02 -0600</pubDate>
  <link></link>
  <title><![CDATA[Internship Program for Bioinformatics / Biotechnology / MBA / MCA (No. Of Vacancy: 5)]]></title>
  <description><![CDATA[
<p>ArrayGen is offering an Internship Program for Post graduate Bioinformatics / Biotechnology / MBA / MCA students and professionals. ArrayGen Technologies provide an excellent opportunity to gain research experience and explore if a scientific career is right for you. Currently we offer positions to outstanding students interested in Next Generation Sequencing (NGS) data analysis or marketing or software development. Applications are accepted throughout the year. Accepted students will be notified through email.</p>
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