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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/44718?offset=890</link>
	<atom:link href="https://bioinformaticsonline.com/related/44718?offset=890" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/12567/workshop-on-molecular-modeling-and-dynamics-simulation-analyses</guid>
  <pubDate>Fri, 04 Jul 2014 13:38:13 -0500</pubDate>
  <link></link>
  <title><![CDATA[Workshop On Molecular Modeling and Dynamics Simulation Analyses]]></title>
  <description><![CDATA[
<p>Workshop On Molecular Modeling and Dynamics Simulation Analyses</p>

<p>August1-2, 2014</p>

<p>Organised By</p>

<p>Centre of Excellence in Bioinformatics<br />Bioinformatics Infrastructure Facility<br />Department of Biochemistry<br />University of Lucknow<br />Lucknow-226007</p>

<p>Course Contents</p>

<p>Molecular Modeling<br /> Homology Modeling<br />Molecular Docking<br />Post-structural Analyses</p>

<p>Molecular Dynamics (MD)<br />Simulation<br />Linux Introduction<br />Gromacs Installation</p>

<p>MD Simulation of Protein ligand complex<br />Analyses of MD<br />Trajectories<br />Visualization of Dynamic<br />complexes</p>

<p>Important Dates</p>

<p>Registration Begins June 25, 2014<br />Registration Closes July 25, 2014</p>

<p>Brochure : www.lkouniv.ac.in/conference/Brochure_August,%202014.pdf</p>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/40577/computational-biology-summer-research-programme</guid>
  <pubDate>Mon, 20 Jan 2020 23:38:44 -0600</pubDate>
  <link></link>
  <title><![CDATA[Computational Biology Summer Research Programme]]></title>
  <description><![CDATA[
<p>IMSc has a limited programme for highly motivated bachelors and masters students interested in research in the areas of Theoretical Physics, Mathematics, Theoretical Computer Science and Computational Biology to visit the Institute over their summer vacation. In addition, IMSc also accepts students through the summer program organized by the joint Indian Academies of Science.<br />General Structure<br />This is a limited programme, depending on the availability of infrastructure and faculty advisors. We typically select about 25 students across disciplines although this number varies a bit from year to year. These visits typically span 6-8 weeks during the summer (May-July). There is also a provision for a 4-6 month visit, typically during January-April or August-November for extended project work.</p>

<p>Qualifications<br />Students currently in their pre-final or final year of BSc/BE/BTech or first year MSc/ME/MTech or equivalent with a good academic record are encouraged to apply through IMSc's formal application process.</p>

<p>To apply through the summer program jointly organized by the Academies of Science, please check the Indian Academy of Sciences for their application process: http://web-japps.ias.ac.in:8080/fellowship2018/index.html.<br />Stipend<br />Selected students will be paid 2nd class round trip train fare plus Rs.200 per diem. Accommodation will be provided in the hostel during summer, subject to availability. Since our ability to provide accomodation is often limited, we suggest that students also explore alternative possibilities for stay in Chennai. Accommodation will not be provided for longer visits.</p>

<p>Application Process<br />To apply for our summer programs please follow the instructions for the respective fields:<br />Theoretical Physics<br />Mathematics<br />Theoretical Computer Science<br />Computational Biology</p>

<p>Other information<br />If you have more questions about our application procedures, about your eligibility or simply about life and work at IMSc, do write to any of the faculty members listed on our home page.</p>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12944/orione-%E2%80%93-a-web-based-framework-for-ngs-analysis-in-microbiology</guid>
	<pubDate>Wed, 23 Jul 2014 06:43:03 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12944/orione-%E2%80%93-a-web-based-framework-for-ngs-analysis-in-microbiology</link>
	<title><![CDATA[Orione – a web-based framework for NGS analysis in microbiology]]></title>
	<description><![CDATA[<p>End-to-end NGS microbiology data analysis requires a diversity of tools covering bacterial resequencing, de novo assembly, scaffolding, bacterial RNA-Seq, gene annotation and metagenomics. However, the construction of computational pipelines that use different software packages is difficult due to a lack of interoperability, reproducibility, and transparency. To overcome these limitations researchers at <a href="http://www.crs4.it/" target="_blank">CRS4</a>, Italy have developed Orione, a Galaxy-based framework consisting of publicly available research software and specifically designed pipelines to build complex, reproducible workflows for NGS microbiology data analysis. Enabling microbiology researchers to conduct their own custom analysis and data manipulation without software installation or programming, Orione provides new opportunities for data-intensive computational analyses in microbiology and metagenomics.</p>
<p>Reference</p>
<p>Cuccuru G1, Orsini M, Pinna A, Sbardellati A, Soranzo N, Travaglione A, Uva P, Zanetti G, Fotia G. (2014)<strong> Orione, a web-based framework for NGS analysis in microbiology.</strong> <em>Bioinformatics</em> [Epub ahead of print]. [<a href="http://bioinformatics.oxfordjournals.org/content/early/2014/03/10/bioinformatics.btu135.long" target="_blank">article</a>]</p><p>Address of the bookmark: <a href="http://orione.crs4.it/" rel="nofollow">http://orione.crs4.it/</a></p>]]></description>
	<dc:creator>Martin Jones</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44756/phd-hunt-your-gateway-to-nordic-academic-opportunities</guid>
	<pubDate>Thu, 02 Jan 2025 19:55:22 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44756/phd-hunt-your-gateway-to-nordic-academic-opportunities</link>
	<title><![CDATA[PhD Hunt: Your Gateway to Nordic Academic Opportunities]]></title>
	<description><![CDATA[<p>Embarking on a PhD journey is a transformative step in academia. To ease this transition, we brings you a curated list of top resources and institutions across Denmark, Sweden, Norway, and Finland. These links will guide you through finding opportunities and navigating the academic landscape in the Nordic region.</p><p><strong>PhD Opportunities in Denmark Denmark boasts a robust academic infrastructure with world-class universities. Here are some essential resources:</strong></p><p>Study in Denmark: <a>https://studyindenmark.dk</a></p><p>Aarhus University: <a>https://phd.au.dk</a></p><p>Euraxess Denmark: <a>https://euraxess.dk</a></p><p>Technical University of Denmark (DTU): <a>https://dtu.dk</a></p><p>University of Copenhagen: <a>https://phd.ku.dk</a></p><p>Copenhagen Business School: <a>https://cbs.dk</a></p><p>Jobindex: <a>https://jobindex.dk</a></p><p>Roskilde University: <a>https://ruc.dk</a></p><p>University of Southern Denmark: <a>https://sdu.dk</a></p><p>Academic Positions Denmark: <a>https://academicpositions.dk</a></p><p><strong>PhD Opportunities in Sweden Sweden is renowned for its innovation-driven academic culture. Here&rsquo;s where you can find opportunities:</strong></p><p>FindAPhD Sweden: <a>https://findaphd.com/phds/sweden</a></p><p>Euraxess Sweden: <a>https://euraxess.se</a></p><p>Academic Positions Sweden: <a>https://academicpositions.se</a></p><p>KTH Royal Institute of Technology: <a>https://kth.se</a></p><p>Lund University: <a>https://lu.se</a></p><p>Uppsala University: <a>https://uu.se</a></p><p>Chalmers University of Technology: <a>https://chalmers.se</a></p><p>Link&ouml;ping University: <a>https://liu.se</a></p><p>Stockholm University: <a>https://su.se</a></p><p>Swedish University of Agricultural Sciences (SLU): <a>https://slu.se</a></p><p>Study in Sweden: <a>https://studyinsweden.se</a></p><p>Malm&ouml; University: <a>https://mau.se</a></p><p><strong>PhD Opportunities in Norway Norway offers unique research opportunities, complemented by its stunning natural landscapes:</strong></p><p>JobbNorge: <a>https://jobbnorge.no</a></p><p>Euraxess Norway: <a>https://euraxess.no</a></p><p>University of Oslo: <a>https://uio.no</a></p><p>Norwegian University of Science and Technology (NTNU): <a>https://ntnu.edu</a></p><p>Norwegian Business School (BI): <a>https://bi.edu</a></p><p>Norwegian School of Economics: <a>https://nhh.no</a></p><p>Norwegian University of Life Sciences (NMBU): <a>https://nmbu.no</a></p><p>Norwegian School of Sport Sciences: <a>https://nih.no</a></p><p>University of Bergen: <a>https://uib.no</a></p><p>Nord University: <a>https://nord.no</a></p><p>UiT The Arctic University of Norway: <a>https://uit.no</a></p><p><strong>PhD Opportunities in Finland Finland&rsquo;s education system emphasizes research excellence and innovation. Explore these resources</strong>:</p><p>FindAPhD Finland: <a>https://findaphd.com/phds/finland</a></p><p>Euraxess Finland: <a>https://euraxess.fi</a></p><p>University of Helsinki: <a>https://helsinki.fi</a></p><p>Aalto University: <a>https://aalto.fi</a></p><p>University of Turku: <a>https://utu.fi</a></p><p>Tampere University: <a>https://tuni.fi</a></p><p>University of Eastern Finland: <a>https://uef.fi</a></p><p>University of Jyv&auml;skyl&auml;: <a>https://jyu.fi</a></p><p>&Aring;bo Akademi University: <a>https://abo.fi</a></p><p>Hanken School of Economics: <a>https://hanken.fi</a></p><p>LUT University: <a>https://lut.fi</a></p><p>Conclusion The Nordic countries offer exceptional opportunities for PhD aspirants. From top-ranked universities to specialized research institutions, the possibilities are endless. Bookmark PhD Hut as your starting point, and let these resources guide you to your academic aspirations.</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/12883/breaking-chromosomes-to-study-cancer</guid>
	<pubDate>Fri, 18 Jul 2014 05:42:09 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/12883/breaking-chromosomes-to-study-cancer</link>
	<title><![CDATA[Breaking chromosomes to study cancer !!!]]></title>
	<description><![CDATA[<p>Chromosomes are present in every cell of our body and they contain the information the body needs to develop and function properly. This information is carried in genes that are arranged along the chromosomes. There are usually 46 chromosomes in every cell. These chromosomes come in pairs, one from our mother and one from our father. The chromosomes can be sorted into 23 pairs by looking at them down a microscope.</p><p>Most people who have a balanced translocation have the right amount of chromosome material but it has been rearranged in some way. This may happen if two chromosomes swap pieces (a reciprocal translocation). In other cases two whole chromosomes may become stuck together (a Robertsonian translocation). This page describes what happens when someone has a reciprocal translocation. <br /><br />Reciprocal chromosomal translocations occur following double-strand breaks (DSBs) in DNA when a section of one chromosome is exchanged with that of another, non-homologous chromosome. These exchanges may produce a dysfunctional fusion gene that disrupts cell growth and survival pathways, such as the translocations seen in leukemia and childhood sarcomas. <br /><br />Chromosomal translocations have been well studied in cancer cell lines which are associated with two types of cancer, acute myeloid leukemia and Ewing's sarcoma, but determining how they contribute to cancer development is complicated by additional mutations and altered gene expression profiles in these cultured cells. Now, Juan Carlos Ramirez, head of the Viral Vector Facility at the Fundacion Centro Nacional de Investigaciones Cardiovasculares (CNIC) and his colleagues Raul Torres at CNIC and Sandra Rodriguez-Peralez at the Spanish National Cancer Center (CNIO) in Madrid, Spain have used a new genome editing tool, CRISPR-Cas9, to induce chromosomal translocations for the first time in a human cell line and in primary cells. The study's authors conclude by stating that the use of this technology will allow for the clarification of how and why chromosomal translocation occurs, which without doubt will allow new anti-cancer therapeutic strategies to be tackled.</p><p>Using RNA-Guided Endonuclease (RGEN) technology or CRISPR/Cas9 genome engineering technology, CNIO and CNIC researchers have shown that it is possible to obtain such chromosomal translocations. The CRISPR-Cas9 system is extremely simple to introduce a cut at the desired locus, easier to design, and cheaper than many other systems. Using the CRISPR-Cas9 system, Ramirez and his colleagues reproduced the translocations observed in Ewing&rsquo;s Sarcoma (ES) and Acute Myeloid Leukemia (AML) patient cell lines in HEK293 cells and also generated the ES translocation in human mesenchymal stem cells and the AML translocation in umbilical cord blood cells.</p><p>By focusing on chromosomal translocation without the confounding characteristics of established cell lines, these new cells lines should help answer the fundamental question of what causes a cell to become cancerous. Ramirez and his team now look forward to modeling other chromosome translocations in a variety of cell types.</p><p>Reference:</p><p>http://en.wikipedia.org/wiki/Chromosomal_translocation</p><p>http://www.nature.com/ncomms/2014/140603/ncomms4964/abs/ncomms4964.html<br /><br /></p>]]></description>
	<dc:creator>Jit</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/40868/inrae-organises-open-competitions-to-recruit-research-scientists-on-permanent-positions</guid>
  <pubDate>Sun, 02 Feb 2020 23:08:36 -0600</pubDate>
  <link></link>
  <title><![CDATA[INRAE organises open competitions to recruit research scientists on permanent positions.]]></title>
  <description><![CDATA[
<p>Each year, INRAE organises open competitions to recruit research scientists on permanent positions. The recruitment campaign is generally aimed at researchers who have recently obtained their PhD. Candidates are recruited on the basis of their scientific competence which they will put to the service of INRAE's major research axes by responding to a research topic. Candidates must have published articles on the results of their PhD.</p>

<p>Campaign calendar:</p>

<p>- Opening date for applications: January 30, 2020<br />- Deadline for applications: March 5, 2020<br />- Pre-selections: April-May 2020<br />- Final selections: May-June 2020<br />- Starting date for appointments: from September 2020</p>

<p>More at https://jobs.inrae.fr/en/open-competitions/open-competions-research-scientists-crcn</p>
]]></description>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/12940/ra-at-iiser-kolkata-computational-biologybioinformatics</guid>
  <pubDate>Wed, 23 Jul 2014 06:24:28 -0500</pubDate>
  <link></link>
  <title><![CDATA[RA at IISER Kolkata Computational Biology/Bioinformatics]]></title>
  <description><![CDATA[
<p>Applications are invited from suitable candidates for research associate (post-doc; Rs. 22000-32000)/research fellow (16000-18000)/project assistant (Rs. 10000-14000) positions in the Department of Biological Sciences, Indian Institute for Science Education and Research Kolkata in the extramural project. Condition to satisfactory performance, the positions is for a period of upto 2 years (or funding of the project).</p>

<p>Brief description: We are looking for suitable candidates in the area o computational biology/bioinformatics/genomics or related field for next-generation sequencing (NGS) data analysis for small-RNAs, RNA-Seq and targeted resequencing of plants and associated organisms. We are an interdisciplinary group where projects equally involve bioinformatics and systems biology (specially microarrays and next-generation sequencing (NGS) data analysis and its use), along with plant molecular biology, genetic engineering, field biology, and analytical plant chemistry for understanding response of plants to biotic stresses.</p>

<p>Essential qualification: MSc/BTech/MTech/PhD (or other suitable qualification) in disciplines preferable to bioinformatics, computational biology, computer application (or equivalent)/ ‘Advance Post-Graduate Diploma in Bioinformatics’. Proficiency in programming languages (such as Perl, C++) and/or statistics (proficient in R for example) is compulsory.</p>

<p>Desirable qualification: Experience in the field of genomics e.g. microarray analysis, NGS, genome annotation, database development and management, software development, systems and network biology (or related fields) will be preferred.</p>

<p>Application process: Applications should contain CV along with brief description (maximum 1 page) of research conducted (highlighting skills and experience) till now. Applications should be sent by e-mail to Shree Prakash Pandey, Department of Biological Sciences, Indian Institute of Science Education and Research Kolkata, Mohanpur Campus, WB, India within 14 days of this advertisement.</p>

<p>E-mail: sppiiserkol@gmail.com, sppandey@iiserkol.ac.in</p>

<p>Advertisement:</p>

<p>http://www.iiserkol.ac.in/announcements/adverts/671-advt_ra_shree_prakash_july_2014</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/42188/tools-and-method-for-haplotype-phasing</guid>
	<pubDate>Fri, 04 Sep 2020 20:41:40 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/42188/tools-and-method-for-haplotype-phasing</link>
	<title><![CDATA[Tools and Method for Haplotype phasing !]]></title>
	<description><![CDATA[<div>Huge amounts of genotype data are being produced with recent technological advances, both from increasingly&nbsp; comprehensive and inexpensive genome-wide SNP microarrays and from ever more accessible whole-genome and whole-exome sequencing methods. The vast amount of knowledge contained in these results, however, is best&nbsp; exploited through phased haplotypes, which classify the alleles co-located on the same chromosome. Since sequence and SNP array data normally take the form of unphased genotypes, one does not specifically observe which of the two parental chromosomes, or haplotypes, falls on a specific allele. Fortunately, new advances in both computational and laboratory methods promise improved determination of haplotype phase. Following are useful tools :</div><div>&nbsp;</div><p><strong>Arlequin:</strong>&nbsp;<a href="http://cmpg.unibe.ch/software/arlequin3/" target="_blank">http://cmpg.unibe.ch/software/arlequin3/</a></p><p><strong>BEAGLE:</strong>&nbsp;<a href="http://faculty.washington.edu/browning/beagle/beagle.html" target="_blank">http://faculty.washington.edu/browning/beagle/beagle.html</a></p><p><strong>fastPHASE:</strong>&nbsp;<a href="http://stephenslab.uchicago.edu/software.html" target="_blank">http://stephenslab.uchicago.edu/software.html</a></p><p><strong>GENEHUNTER:</strong>&nbsp;<a href="http://linkage.rockefeller.edu/soft/gh/" target="_blank">http://linkage.rockefeller.edu/soft/gh/</a></p><p><strong>The Genome Analysis Toolkit:</strong></p><p><a href="http://www.broadinstitute.org/gsa/wiki/index.php/The_Genome_Analysis_Toolkit" target="_blank">http://www.broadinstitute.org/gsa/wiki/index.php/The_Genome_Analysis_Toolkit</a></p><p><strong>IMPUTE2:</strong>&nbsp;<a href="https://mathgen.stats.ox.ac.uk/impute/impute_v2.html" target="_blank">https://mathgen.stats.ox.ac.uk/impute/impute_v2.html</a></p><p><strong>MACH:</strong>&nbsp;<a href="http://www.sph.umich.edu/csg/abecasis/MACH/" target="_blank">http://www.sph.umich.edu/csg/abecasis/MACH/</a></p><p><strong>MERLIN:</strong>&nbsp;<a href="http://www.sph.umich.edu/csg/abecasis/Merlin/" target="_blank">http://www.sph.umich.edu/csg/abecasis/Merlin/</a></p><p><strong>PHASE:</strong>&nbsp;<a href="http://stephenslab.uchicago.edu/software.html" target="_blank">http://stephenslab.uchicago.edu/software.html</a></p><p><strong>PL-EM:</strong>&nbsp;<a href="http://www.people.fas.harvard.edu/~junliu/plem/" target="_blank">http://www.people.fas.harvard.edu/~junliu/plem/</a></p><p><strong>&ldquo;Read-backed phasing&rdquo; algorithm</strong>:&nbsp;<a href="http://www.broadinstitute.org/gsa/wiki/index.php/Read-backed_phasing_algorithm" target="_blank">http://www.broadinstitute.org/gsa/wiki/index.php/Read-backed_phasing_algorithm</a></p><p><strong>SHAPE-IT:</strong>&nbsp;<a href="http://www.griv.org/shapeit/" target="_blank">http://www.griv.org/shapeit/</a></p>]]></description>
	<dc:creator>Manisha Mishra</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/13226/you-and-your-friend-have-similar-dna</guid>
	<pubDate>Sun, 27 Jul 2014 20:44:05 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/13226/you-and-your-friend-have-similar-dna</link>
	<title><![CDATA[You and your friend have similar DNA !!!]]></title>
	<description><![CDATA[<p>New research out of Massachusetts claims that people often choose friends that are similar to them in genetics and they are more accurate than you might suppose. A study published on PNAS&nbsp;http://www.pnas.org/content/111/Supplement_3/10796.full found that people are apt to pick friends who are genetically similar to themselves - so much so that friends tend to be as alike at the genetic level as a person's fourth cousin.</p><div style="text-align: center;"><img src="http://i.kinja-img.com/gawker-media/image/upload/s--CwLwHa43--/18fbmlokxcmqcjpg.jpg" alt="image" width="300" height="271" style="border: 0px; border: 0px;"></div><p>Scientists with a long-running Framingham Heart Study looked at 1,932 people (examination of about 1.5 million markers of genetic variations), comparing unrelated friends to unrelated strangers. They found that friends shared about 1% of their genes &mdash; a percentage much higher than those shared with strangers.This new findings made it clear that people have more DNA in common with those who are selected as friends than with strangers in the same population.&nbsp;</p><p>The genes that lined up the most were olfactory genes, which deal with smell. The ones that lined up the least were immune system genes. The researchers weren't sure why that happened :/. Olfactory genes might be a straightforward explanation: People who like the same smells tend to be drawn to similar environments, where they meet others with the same tendencies.</p><p>Reference:</p><p>http://www.pnas.org/content/111/Supplement_3/10796.full</p><p>Image : http://i.kinja-img.com</p>]]></description>
	<dc:creator>Jit</dc:creator>
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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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