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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/28915?offset=1180</link>
	<atom:link href="https://bioinformaticsonline.com/related/28915?offset=1180" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42917/fings-filters-for-next-generation-sequencing</guid>
	<pubDate>Sat, 27 Feb 2021 01:18:35 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42917/fings-filters-for-next-generation-sequencing</link>
	<title><![CDATA[FiNGS: Filters for Next Generation Sequencing]]></title>
	<description><![CDATA[<h2>Key features</h2>
<ul>
<li><strong>Filters SNVs from any variant caller to remove false positives</strong></li>
<li><strong>Calculates metrics based on BAM files and provides filtering not possible with other tools</strong></li>
<li><strong>Fully user-configurable filtering (including which filters to use and their thresholds)</strong></li>
<li><strong>Option to use filters identical to ICGC recommendations</strong></li>
</ul>
<p>FiNGS provides researchers with a tool to reproducibly filter somatic variants that is simple to both deploy and use, with filters and thresholds that are fully configurable by the user. It ingests and emits standard variant call format (VCF) files and will slot into existing sequencing pipelines. It allows users to develop and implement their own filtering strategies and simple sharing of these with others.</p>
<p>FiNGS reliably improves upon the precision of default variant caller outputs and performs better than other tools designed for the same task.</p><p>Address of the bookmark: <a href="https://github.com/cpwardell/FiNGS" rel="nofollow">https://github.com/cpwardell/FiNGS</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/21241/pacman</guid>
	<pubDate>Mon, 16 Feb 2015 12:15:17 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/21241/pacman</link>
	<title><![CDATA[Pacman]]></title>
	<description><![CDATA[<p><span>The pacman package is an R package management tool that combines the functionality of base library related functions into intuitively named functions. This package is ideally added to .Rprofile to increase workflow by reducing time recalling obscurely named functions, reducing code and integrating functionality of base functions to simultaneously perform multiple actions.<br /><br />Function names in the pacman package follow the format of p_xxx where &lsquo;xxx&rsquo; is the task the function performs. For instance the p_load function allows the user to load one or more packages as a more generic substitute for the library or require functions and if the package isn&rsquo;t available locally it will install it for you.<br /><br /></span></p><p><strong>Installation</strong></p><p><span>To download the development version of pacman:</span></p><p><span>Download the </span><a href="https://github.com/trinker/pacman/zipball/master">zip ball</a><span> or </span><a href="https://github.com/trinker/pacman/tarball/master">tar ball</a><span>, decompress and run </span><code>R CMD INSTALL</code><span> on it, or use th</span><span>e </span><strong>devtools</strong><span> package to install the development version:</span></p><pre title="">## Make sure your current packages are up to date
update.packages()
## devtools is required
devtools::install_github("trinker/pacman")
</pre><p>Note: Windows users need <a href="http://www.murdoch-sutherland.com/Rtools/">Rtools</a> and <a href="http://CRAN.R-project.org/package=devtools">devtools</a> to install this way.</p><p>More at https://github.com/trinker/pacman</p><p>&nbsp;</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/21435/ra-walk-in-interview-nbfgr-lucknow</guid>
  <pubDate>Tue, 24 Feb 2015 08:23:48 -0600</pubDate>
  <link></link>
  <title><![CDATA[RA WALK-IN-INTERVIEW @ NBFGR, Lucknow]]></title>
  <description><![CDATA[
<p>F.No. 1(122)/2015-Admn. (CABin Project)<br />Research Associate/Young Professional/SRF Zoology job vacancies in National Bureau of Fish Genetic Resources (NBFGR)<br />Post Name: Research Associate (Computer Science/ Applications)                <br />Qualification: Ph.D. In Computer Science/Computer Applications or equivalent. Or Post-Graduation in Computer Science/ Computer Applications with 1st Division or 60% marks or equivalent overall grade point average with at least two years of research experience. Desirable: 1. Expertise and experience of working/ handling High Performance Computing (H PC) and genomic resource data. 2. Expertise on database management, data mining technologies/ softwares/tools. 3. Published Research papers	<br />No.of Post: 1<br />Pay Scale: Consolidated Rs.24,000/- p.m. + HRA (as admissible) for Ph.D. holders and consolidated `23,000/- + HRA (as admissible) for Master degree holder.	<br />Age:40 years</p>

<p>Young Professional II (Computer Science/Applications)	<br />Master degree in Computer Science/Computer Applications/B.Tech (Computer Science) or equivalent. <br />Desirable: 1. Knowledge of Statistical and Computational Genomics/ Proteomics/ Bioinformatics/Data mining tools. 2. Experience in handling HPC, programming languages and database management packages.	<br />A consolidated salary of Rs.25,000/- per month.	<br />21 to 45 year</p>

<p>Young Professional II (Biotechnology/ Bioinformatics)	<br />Master degree in Bioinformatics/ Biotechnology/ B. Tech(Biotech) or equivalent. Desirable: 1. Knowledge of Computational Genomics/Proteomics/Bioinformatics. 2. Expertise in NGS data analysis and knowledge of allied software and tools.	<br />A consolidated salary of Rs.25,000/- per month.	</p>

<p>Senior Research Fellow	<br />1. Bachelors degree with Zoology, Fisheries and 2. Master's degree in Fishery science/ Zoology with Fisheries/ Biotechnology/ Life Sciences with specialization in Fisheries/ Molecular Biology. 3. 1 st Division or 60% marks or equivalent overall grade point average. <br />Desirable: Work experience in Fisheries, molecular research techniques, bioinformatics and Computer skills. NET qualified <br />Note: The project involves extensive exploration tours and sampling from water bodies all over India	<br />Rs.16,000/- p.m. for 1st &amp; 2nd year and `18,000/- p.m. for 3rd and subsequent years +HRA (as per rules)	35 years for male and 40 years for female candidate</p>

<p>How to apply</p>

<p>A walk-in-interview will be held on 04th March, 2015 at 10:00 hrs at National Bureau of Fish Genetic Resources, Lucknow. Eligible and desirous candidates fulfilling all the requirements may appear for the interview with duly filled in application giving full details of academic records and experience(s) along with attested photocopy as well as original copy of the relevant documents and a passport size photograph on the attached proforma.</p>

<p>http://www.nbfgr.res.in/</p>
]]></description>
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<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37674/qualimap2-evaluating-next-generation-sequencing-alignment-data</guid>
	<pubDate>Tue, 11 Sep 2018 04:44:29 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37674/qualimap2-evaluating-next-generation-sequencing-alignment-data</link>
	<title><![CDATA[Qualimap2: Evaluating next generation sequencing alignment data]]></title>
	<description><![CDATA[<p><strong>Qualimap 2</strong><span>&nbsp;is a platform-independent application written in Java and R that provides both a Graphical User Inteface (GUI) and a command-line interface to facilitate the quality control of alignment sequencing data and its derivatives like feature counts.&nbsp;</span><br><br><span>Supported types of experiments include:</span></p>
<ul>
<li>Whole-genome sequencing</li>
<li>Whole-exome sequencing</li>
<li>RNA-seq (speical mode available)</li>
<li>ChIP-seq</li>
</ul><p>Address of the bookmark: <a href="http://qualimap.bioinfo.cipf.es/" rel="nofollow">http://qualimap.bioinfo.cipf.es/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/21443/a-guide-for-complete-r-beginners-getting-data-into-r</guid>
	<pubDate>Tue, 24 Feb 2015 20:15:08 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/21443/a-guide-for-complete-r-beginners-getting-data-into-r</link>
	<title><![CDATA[A guide for complete R beginners :- Getting data into R]]></title>
	<description><![CDATA[<p>For a beginner this can be is the hardest part, it is also the most important to get right.</p><p>It is possible to create a vector by typing data directly into R using the combine function &lsquo;c&rsquo;</p><blockquote><p><strong>x </strong></p></blockquote><p>same as</p><blockquote><p><strong>x </strong></p></blockquote><p>creates the vector x with the numbers between 1 and 5.</p><p>You can see what is in an object at any time by typing its name;</p><blockquote><p><strong>x</strong></p></blockquote><p>will produce the output<strong> &lsquo;[1] 1 2 3 4 5&prime;</strong></p><p>Note that names need to be quoted</p><blockquote><p><strong>daysofweek </strong><strong>&larr; c(&lsquo;Monday&rsquo;, &lsquo;Tuesday&rsquo;, &lsquo;Wednesday&rsquo;, &lsquo;Thursday&rsquo;, &lsquo;Friday&rsquo;);</strong></p></blockquote><p>Usually however you want to input from a file. We have touched on the &lsquo;read.table&rsquo; function already.</p><blockquote><p><strong>mydata </strong></p></blockquote><p>Now <strong>mydata</strong> is a data frame with multiple vectors</p><p>each vector can be identified by the default syntax</p><p>#if any of these are typed it will print to screen</p><blockquote><p><strong>mydata$V1 mydata$V2 mydata$V3 </strong></p></blockquote><p>By default the function assumes certain things from the file</p><ul>
<li>The file is a plain text file (there are function to read excel files: <em>not covered here</em>)</li>
<li>columns are separated by any number of tabs or spaces</li>
<li>there is the same number of data points in each column</li>
<li>there is no header row (labels for the columns)</li>
<li>there is no column with names for the rows** [I&rsquo;ll explain].</li>
</ul><p><span style="text-decoration: underline;">If any of these are false, we need to tell that to the function</span></p><p>If it has a header column</p><blockquote><p><strong>mydata <em>header=T also works</em></strong></p></blockquote><p>Note that there is a comma between different parts of the functions arguments</p><p>If there is one less column in the header row, then R assumes that the 1<sup>st</sup> column of data after the header are the row names</p><p>Now the vectors (columns) are identified by their name</p><p>#if any of these are typed it will print to screen</p><blockquote><p><strong>mydata$A mydata$B mydata$C </strong></p></blockquote><p># Summary about the whole data frame</p><blockquote><p><strong>summary(mydata)</strong></p></blockquote><p># Summary information of column A</p><blockquote><p><strong>summary(mydata$A) </strong></p></blockquote><p>We can shortcut having to type the data frame each time by attaching it</p><blockquote><p><strong>attach(mydata)</strong></p></blockquote><p># summary of column B as &lsquo;mydata&rsquo; is attached</p><blockquote><p><strong>summary(B)</strong></p></blockquote><p><span style="text-decoration: underline;">Two other important options for </span><em><span style="text-decoration: underline;">read.table</span></em></p><p>If is is separated only by tabs and has a header</p><blockquote><p><strong>mydata </strong></p></blockquote><p>Really useful if you have spaces in the contents of some columns, so R does not mess up reading the columns . However if the columns or of an uneven length it will tell you.</p><p>If you know that the file has uneven columns</p><blockquote><p><strong>mydata </strong></p></blockquote><p>This causes R to fill empty spaces in a columns with &lsquo;NA&rsquo; .</p><p>The last two examples will still work with our file and give the same result as with only headers=T</p><p><span style="text-decoration: underline;">Graphs</span></p><p>to get an idea of what R is capable of type</p><blockquote><p><strong>demo(graphics)</strong></p></blockquote><p>steps through the examples, and the code is printed to the screen</p><p>We will work with simpler examples that have immediate use to biologists.</p><p>Remember to get more information about the options to a function type &lsquo;?function&rsquo;</p><p><span style="text-decoration: underline;">Histogram of A</span><span style="text-decoration: underline;"></span></p><blockquote><p><strong>hist(mydata$A)</strong></p></blockquote><p>If there was more data we could increase the number of vertical columns with the option, breaks=50 (or another relevant number).</p><blockquote><p><strong>boxplot(mydata)</strong></p></blockquote><p>We can get rid of the need to type the data frame each time by using the <strong>attach</strong> function</p><p># if not already done so</p><blockquote><p><strong>attach(mydata) </strong></p><p><strong>boxplot(mydata$A, mydata$B, name=c(&ldquo;Value A&rdquo;, &ldquo;Value B&rdquo;) , ylab=&ldquo;Count of Something&rdquo;)</strong></p></blockquote><p>same as</p><blockquote><p><strong>boxplot(A, B, name=c(&ldquo;Value A&rdquo;, &ldquo;Value B&rdquo;) , ylab=&ldquo;Count of Something&rdquo;)</strong></p></blockquote><p><span style="text-decoration: underline;">Scatter plot</span></p><p># if not already done so</p><blockquote><p><strong>attach(mydata) </strong></p><p><strong>plot(A,B) # or plot(mydata$A, mydata$B)</strong></p></blockquote><p><strong><span style="text-decoration: underline;">SAVING an image</span></strong></p><p>Windows users (Rgui) RIGHT click on image and select which you want.</p><p><span style="text-decoration: underline;">These instructions work for everyone.</span></p><p>You need to create a new device of the type of file you need, then send the data to that device</p><p>to save as a png file (easy to load into the likes of powerpoint, also great for web applications.</p><blockquote><p><strong>png(&lsquo;filename&rsquo;) </strong></p><p><strong>boxplot(A, B, name=c(&ldquo;Value A&rdquo;, &ldquo;Value B&rdquo;) , ylab=&ldquo;Count of Something&rdquo;)</strong></p></blockquote><p>or to save as a pdf</p><blockquote><p><strong>pdf(&lsquo;filename&rsquo;) </strong></p><p><strong>boxplot(A, B, name=c(&ldquo;Value A&rdquo;, &ldquo;Value B&rdquo;) , ylab=&ldquo;Count of Something&rdquo;)</strong></p></blockquote><p><span style="text-decoration: underline;">Note</span></p><ul>
<li>Nothing will appear on screen, the output is going to the file</li>
<li>Also it may not be saved immediately but will once the device (or R) is turned quit.</li>
</ul><p>To quit R type</p><p><strong>q() # </strong>If you save your session, next time you start R, you will have your data preloaded.</p><p>Or if you want to remain in R</p><blockquote><pre><strong>dev.off() #</strong>turns of the png (or pdf etc) device, thus forces the data to save</pre></blockquote>]]></description>
	<dc:creator>Archana Malhotra</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39213/flye-fast-and-accurate-de-novo-assembler-for-single-molecule-sequencing-reads</guid>
	<pubDate>Tue, 02 Apr 2019 21:54:55 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39213/flye-fast-and-accurate-de-novo-assembler-for-single-molecule-sequencing-reads</link>
	<title><![CDATA[Flye: Fast and accurate de novo assembler for single molecule sequencing reads]]></title>
	<description><![CDATA[<p><span>Flye is a de novo assembler for single molecule sequencing reads, such as those produced by PacBio and Oxford Nanopore Technologies. It is designed for a wide range of datasets, from small bacterial projects to large mammalian-scale assemblies. The package represents a complete pipeline: it takes raw PB / ONT reads as input and outputs polished contigs. Flye also includes a special mode for metagenome assembly.</span></p><p>Address of the bookmark: <a href="https://github.com/fenderglass/Flye" rel="nofollow">https://github.com/fenderglass/Flye</a></p>]]></description>
	<dc:creator>BioJoker</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/21539/research-associate-at-central-potato-research-institute-cpri-shimla-himachal-pradesh</guid>
  <pubDate>Wed, 11 Mar 2015 03:07:37 -0500</pubDate>
  <link></link>
  <title><![CDATA[RESEARCH ASSOCIATE at Central Potato Research Institute (CPRI) - Shimla, Himachal Pradesh]]></title>
  <description><![CDATA[
<p>One post of Research Associate for Project Implementation Unit in the time bound project “XII Plan -–Centre of Agricultural Bio-informatics(CABIN)” are to be filled on purely contractual basis which will be co-terminus with the project as per the details given as under : </p>

<p>No of post : 01 <br />Essential qualifications: i) Ph. D degree in Bioinformatics/computers/Bio-technology. OR ii) Master’s Degree in Bioinformatics/computers/Bio-technology with 1st division or 60% marks or equivalent overall grade point average with at least two years of research experience as evidenced from fellowship/Associateship/training/other engagements. <br />Desirable qualifications: i) Working Knowledge and Published Research papers in Bio-informatics. <br />Monthly emoluments : Rs. 23,000/- + HRA . for M.Sc degree holder Rs. 24,000/- + HRA for Ph.D degree holder <br />Maximum Age limit : Research Associate – Males- 40 years &amp; Women 45 years. <br />SELECTION PROCEDURE FOR CENTRAL POTATO RESEARCH INSTITUTE (CPRI) – RESEARCH ASSOCIATE POST: </p>

<p>Written Test on 20/03/2015. <br />Shortlisted candidates will undertake face to face interview. <br />Dates are yet to be announced for the final selection <br />WALK-IN PROCEDURE FOR RESEARCH ASSOCIATE VACANCY IN CENTRAL POTATO RESEARCH INSTITUTE (CPRI): </p>

<p>Interested/eligible candidates should submit their application along with the attested copies of educational qualification (provisional degree of Masters and Ph.D is mandatory )/experience certificates and one passport size photograph to the Asstt. Admn. Officer(E-I), CPRI, Shimla-171001 at 9.30 AM on the date of interview. The candidates appearing for interview must bring original certificate with them and only those candidates possessing essential qualification as per advertisement will be interviewed. The Director, CPRI, Shimla reserves the right either to fill up the post or cancel the interview without assigning any reasons thereof. Application form is available in the website ( website: http//cpri.ernet.in). No TA/DA will be given by the Institute to the candidates. The Institute is located at Bemloe which is about 2 Kms from Main Bus Stand(Old)/3 Kms. from the Railway Station and about 5 Kms. from ISBT (Tutikandi).</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40754/understanding-your-reads-and-mapping</guid>
	<pubDate>Wed, 29 Jan 2020 06:29:55 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40754/understanding-your-reads-and-mapping</link>
	<title><![CDATA[Understanding your reads and mapping !]]></title>
	<description><![CDATA[<p>One of the best tutorial for beginners ...</p>
<p>https://bioinformatics-core-shared-training.github.io/cruk-summer-school-2017/Day1/Session4-seqIntro.html</p><p>Address of the bookmark: <a href="https://bioinformatics-core-shared-training.github.io/cruk-summer-school-2017/Day1/Session4-seqIntro.html" rel="nofollow">https://bioinformatics-core-shared-training.github.io/cruk-summer-school-2017/Day1/Session4-seqIntro.html</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/21625/agricul-agricultural-scientists-recruitment-board-tural-scientists-recruitment-board-new-delhi-110-012</guid>
  <pubDate>Wed, 11 Mar 2015 09:18:37 -0500</pubDate>
  <link></link>
  <title><![CDATA[AGRICUL AGRICULTURAL SCIENTISTS RECRUITMENT BOARD TURAL SCIENTISTS RECRUITMENT BOARD NEW DELHI-110 012]]></title>
  <description><![CDATA[
<p>ADVERTISEMENT NO. 01/2015</p>

<p>PRINCIPAL SCIENTIST Pay Band: Minimum pay of `43,000 in the PB-4 of `37400-67000/- + RGP of `10,000/-.</p>

<p>Age: The candidates must not have attained the age of 52 years as on 24.03.2015. There shall be no age limit for the Council’s employees.</p>

<p>ICAR-NATIONAL INSTITUTE OF BIOTIC STRESS MANAGEMENT, RAIPUR (CHHATTISGARH)</p>

<p>57. Principal Scientist (Agricultural Entomology) (Two post)</p>

<p>Qualifications Essential:</p>

<p>(i) Doctoral degree in Agricultural Entomology including relevant basic sciences.</p>

<p>(ii) 10 years experience in the relevant subject out of which at least 8 years should be as Scientist/ Lecturer/Extension Specialist or in an equivalent position in the Pay Band- 3 of `15600-39100 with Grade Pay of `5400/`6000/`7000/`8000 and 2 years as a Senior Scientist or in an equivalent position in the Pay Band- 4 of ` 37400-67000 with Grade Pay of ` 8700/ ` 9000.</p>

<p>(iii) The candidate should have made contribution to research/teaching/extension education as evidenced by published work/innovations and impact.</p>

<p>Desirable:</p>

<p>(i) Experience of using frontiers research tools in management of insect pests of crop plants.</p>

<p>(ii) Evidence of contributions to relevant field through publications/ patents/citation index to suggest a vision/perspective in biotic stress research.</p>

<p>61. Principal Scientist (Bioinformatics) (One post)</p>

<p>Qualifications Essential:</p>

<p>(i) Doctoral degree in Bioinformatics including relevant basic sciences. (ii) &amp; (iii) As in item no. 57 above.</p>

<p>Desirable:</p>

<p>(i) Experience of using bioinformatics for advancement of knowledge and for research on biotic stress management.</p>

<p>(ii) Evidence of contributions to relevant field through publications/patents/citation index to suggest a vision/perspective in biotic stress research.</p>

<p>http://asrb.org.in/administrator/uploads_dir/1424859407english.pdf</p>
]]></description>
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<item>
	<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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