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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/13226?offset=1230</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/34146/phylogenetic-molecular-genetics-terms-and-definitions</guid>
	<pubDate>Tue, 08 Aug 2017 08:20:31 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/34146/phylogenetic-molecular-genetics-terms-and-definitions</link>
	<title><![CDATA[Phylogenetic &amp; Molecular Genetics Terms and Definitions]]></title>
	<description><![CDATA[<p><strong>analog </strong>-- A feature that appears similar in two taxa which have originated from two different ancestors.</p><p><strong>ancestor</strong> -- Any organism, population, or species from which some other organism, population, or species is descended by reproduction.</p><p><strong>apomorphy </strong>-- specialized (=derived) characters of an organism.</p><p><strong>basal group</strong> -- The earliest diverging group within a clade; for instance, to hypothesize that sponges are basal animals is to suggest that the lineage(s) leading to sponges diverged from the lineage that gave rise to all other animals.</p><p><strong>biological classification </strong>-- The orderly arrangement of organisms in hierarchical system that ideally reflects evolutionary history.</p><p><strong>cDNA</strong> -- Complementary DNA; DNA that is synthesized, by reverse transcriptase, from a Messenger RNA template ( Messenger RNA contains the coded information for protein synthesis).</p><p><strong>character</strong> -- Heritable trait possessed by an organism.</p><p><strong>character state</strong> -- characters are usually described in terms of their states, for example: "hair present" vs. "hair absent," where "hair" is the character, and "present" and "absent" are its states.</p><p><strong>clade</strong> -- A monophyletic taxon; a group of organisms which includes the most recent common ancestor of all of its members and all of the descendants of that most recent common ancestor. From the Greek word "klados", meaning branch or twig.</p><p><strong>cladogenesis</strong> -- The development of a new clade; the splitting of a single lineage into two distinct lineages; speciation.</p><p><strong>cladogram</strong> -- A diagram, resulting from a cladistic analysis, which depicts a hypothetical branching sequence of lineages leading to the taxa under consideration. The points of branching within a cladogram are called nodes. All taxa occur at the endpoints of the cladogram.</p><p><strong>convergence</strong> -- Similarities which have arisen independently in two or more organisms that are not closely related. Contrast with homology.&nbsp;</p><p><strong>crown group</strong> -- All the taxa descended from a major cladogenesis event, recognized by possessing the clade's synapomorphy. See: stem group.</p><p><strong>derived</strong> -- Describes a character state that is present in one or more subclades, but not all, of a clade under consideration. A derived character state is inferred to be a modified version of the primitive condition of that character, and to have arisen later in the evolution of the clade. For example, "presence of hair" is a primitive character state for all mammals, whereas the "hairlessness" of whales is a derived state for one subclade within the Mammalia.</p><p><strong>diversity</strong> -- Term used to describe numbers of taxa, or variation in morphology.&nbsp;</p><p><strong>evolution</strong> -- Darwin's definition: descent with modification. The term has been variously used and abused since Darwin to include everything from the origin of man to the origin of life.</p><p><strong>evolutionary tree</strong> -- A diagram which depicts the hypothetical phylogeny of the taxa under consideration. The points at which lineages split represent ancestor taxa to the descendant taxa appearing at the terminal points of the cladogram.</p><p><strong>expressed sequence tag (EST)</strong> -- A partial coding sequence isolated at random from a cDNA library, used for identification and mapping of coding sequences, for discovery of new genes and (by reference to sequence data banks) for discovery of identities with other genes.</p><p><strong>extinction</strong> -- When all the members of a clade or taxon die, the group is said to be extinct.</p><p><strong>genetic marker -- </strong>A DNA sequence that can be recognized and thus used to characterize the larger DNA sequence and the chromosome in which it occurs.&nbsp;</p><p><strong>homolog </strong>-- A feature that appears similar in two or more taxa with a common ancestor that also possessed that feature.</p><p><strong>homology</strong> -- Two structures are considered homologous when they are inherited from a common ancestor which possessed the structure. This may be difficult to determine when the structure has been modified through descent.</p><p><strong>hypothesis</strong> -- A concept or idea that can be falsified by various scientific methods.</p><p><strong>ingroup</strong> -- In a cladistic analysis, the set of taxa which are hypothesized to be more closely related to each other than any are to the outgroup.</p><p><strong>lineage</strong> -- Any continuous line of descent; any series of organisms connected by reproduction by parent of offspring.</p><p><strong>monophyletic</strong> -- Term applied to a group of organisms which includes the most recent common ancestor of all of its members and all of the descendants of that most recent common ancestor. A monophyletic group is called a clade.</p><p><strong>outgroup</strong> -- In a cladistic analysis, any taxon used to help resolve the polarity of characters, and which is hypothesized to be less closely related to each of the taxa under consideration than any are to each other.</p><p><strong>paraphyletic</strong> -- Term applied to a group of organisms which includes the most recent common ancestor of all of its members, but not all of the descendants of that most recent common ancestor.</p><p><strong>parsimony</strong> -- Refers to a rule used to choose among possible cladograms, which states that the cladogram implying the least number of changes in character states is the best.</p><p><strong>phylogenetics</strong> -- Field of biology that deals with the relationships between organisms. It includes the discovery of these relationships, and the study of the causes behind this pattern.</p><p><strong>phylogeny</strong> -- The evolutionary relationships among organisms; the patterns of lineage branching produced by the true evolutionary history of the organisms being considered.</p><p><strong>plesiomorphy</strong> -- A primitive character state for the taxa under consideration.</p><p><strong>polarity of characters</strong> -- The states of characters used in a cladistic analysis, either original or derived. Original characters are those acquired by an ancestor deeper in the phylogeny than the most recent common ancestor of the taxa under consideration. Derived characters are those acquired by the most recent common ancestor of the taxa under consideration.</p><p><strong>polyphyletic</strong> -- Term applied to a group of organisms which does not include the most recent common ancestor of those organisms; the ancestor does not possess the character shared by members of the group.</p><p><strong>primitive</strong> -- Describes a character state that is present in the common ancestor of a clade. A primitive character state is inferred to be the original condition of that character within the clade under consideration. For example, "presence of hair" is a primitive character state for all mammals, whereas the "hairlessness" of whales is a derived state for one subclade within the Mammalia.</p><p><strong>radiation</strong> -- Event of rapid cladogenesis, believed to occur under conditions where a new feature permits a lineage to move into a new niche or new habitat, and is then called an adaptive radiation.</p><p><strong>rank</strong> -- In traditional taxonomy, taxa are ranked according to their level of inclusiveness. Thus a genus contains one or more species, a family includes one or more genera, and so on.</p><p><strong>relatedness</strong> -- Two clades are more closely related when they share a more recent common ancestor between them than they do with any other clade.</p><p><strong>repetitive DNA</strong> -- Sequences of DNA that are found to be repeated, sometimes thousands of times over.&nbsp;&nbsp;</p><p><strong>reticulation</strong> -- Joining of separate lineages on a phylogenetic tree, generally through hybridization or through lateral gene transfer. Fairly common in certain land plant clades; reticulation is thought to be rare among metazoans.</p><p><strong>selection</strong> -- Process which favors one feature of organisms in a population over another feature found in the population. This occurs through differential reproduction -- those with the favored feature produce more offspring than those with the other feature, such that they become a greater percentage of the population in the next generation.</p><p><strong>sister group</strong> -- The two clades resulting from the splitting of a single lineage.</p><p><strong>stem group</strong> -- All the taxa in a clade preceding a major cladogenesis event. They are often difficult to recognize because they may not possess synapomorpies found in the crown group.</p><p><strong>sympleisiomorphy</strong> &ndash; A ancestral character shared by the taxa under consideration</p><p><strong>synapomorphy</strong> -- A character which is derived, and because it is shared by the taxa under consideration, is used to infer common ancestry (shared derived state).</p><p><strong>synteny</strong> -- Portions of chromosomes in which gene order is conserved.&nbsp;</p><p><strong>systematics</strong> -- Field of biology that deals with the diversity of life. Systematics is usually divided into the two areas of phylogenetics and taxonomy.</p><p><strong>taxon</strong> -- Any named group of organisms, not necessarily a clade</p><p><strong>taxonomy</strong> -- The science of naming and classifying organisms.&nbsp;</p>]]></description>
	<dc:creator>Poonam Mahapatra</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/9695/learn-genetics-online</guid>
	<pubDate>Wed, 09 Apr 2014 19:12:42 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/9695/learn-genetics-online</link>
	<title><![CDATA[Learn Genetics Online]]></title>
	<description><![CDATA[<p>Great source to learn genetics and other relevant stuffs online.</p><p>Address of the bookmark: <a href="http://learn.genetics.utah.edu/" rel="nofollow">http://learn.genetics.utah.edu/</a></p>]]></description>
	<dc:creator>Rahul Agarwal</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43112/calling-variants-in-non-diploid-systems</guid>
	<pubDate>Sat, 26 Jun 2021 15:37:49 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43112/calling-variants-in-non-diploid-systems</link>
	<title><![CDATA[Calling variants in non-diploid systems]]></title>
	<description><![CDATA[<p><span>The main challenge associated with non-diploid variant calling is the difficulty in distinguishing between the sequencing noise (abundant in all NGS platforms) and true low frequency variants. Some of the early attempts to do this well have been accomplished on human mitochondrial&nbsp;</span><span>DNA</span><span>&nbsp;although the same approaches will work equally good on viral and bacterial genomes (</span><a href="https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html#Rebolledo-Jaramillo2014">Rebolledo-Jaramillo&nbsp;<em>et al.</em>&nbsp;2014</a><span>,&nbsp;</span><a href="https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html#Li2015">Li&nbsp;<em>et al.</em>&nbsp;2015</a><span>).</span></p><p>Address of the bookmark: <a href="https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html" rel="nofollow">https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42963/davi-deep-learning-based-tool-for-alignment-and-single-nucleotide-variant-identification</guid>
	<pubDate>Tue, 16 Mar 2021 05:41:33 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42963/davi-deep-learning-based-tool-for-alignment-and-single-nucleotide-variant-identification</link>
	<title><![CDATA[DAVI: Deep learning-based tool for alignment and single nucleotide variant identification]]></title>
	<description><![CDATA[<p>DAVI consists of models for both global and local alignment and for variant calling. We have evaluated the performance of DAVI against existing state-of-the-art tool sets and found that its accuracy and performance is comparable to existing tools used for bench-marking. We further demonstrate that while existing tools are based on data generated from a specific sequencing technology, the models proposed in DAVI are generic and can be used across different NGS technologies as well as across different species</p>
<p>https://iopscience.iop.org/article/10.1088/2632-2153/ab7e19/pdf</p><p>Address of the bookmark: <a href="https://github.com/gguptaiitd/NEAT" rel="nofollow">https://github.com/gguptaiitd/NEAT</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39383/geck-trio-based-comparative-benchmarking-of-variant-calls</guid>
	<pubDate>Sun, 19 May 2019 20:54:12 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39383/geck-trio-based-comparative-benchmarking-of-variant-calls</link>
	<title><![CDATA[geck: trio-based comparative benchmarking of variant calls]]></title>
	<description><![CDATA[<p><span>Determine the accuracy of our model by comparing the precision and recall of GATK Unified Genotyper and Haplotype Caller on the high-confidence SNPs of the NIST Ashkenazim trio and the two independent Platinum Genome trios. We show that our method is able to estimate&nbsp;</span><em>differential</em><span>&nbsp;precision and recall between the two pipelines with&nbsp;</span><span>10<span>&minus;3</span></span><span>uncertainty.</span></p><p>Address of the bookmark: <a href="https://github.com/sbg/geck" rel="nofollow">https://github.com/sbg/geck</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41146/lofreq-a-sequence-quality-aware-ultra-sensitive-variant-caller-for-ngs-data</guid>
	<pubDate>Tue, 18 Feb 2020 03:24:22 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41146/lofreq-a-sequence-quality-aware-ultra-sensitive-variant-caller-for-ngs-data</link>
	<title><![CDATA[LoFreq*: A sequence-quality aware, ultra-sensitive variant caller for NGS data]]></title>
	<description><![CDATA[<p>LoFreq* (i.e. LoFreq version 2) is a fast and sensitive variant-caller for inferring SNVs and indels from next-generation sequencing data. It makes full use of base-call qualities and other sources of errors inherent in sequencing (e.g. mapping or base/indel alignment uncertainty), which are usually ignored by other methods or only used for filtering.</p>
<p>https://github.com/CSB5/lofreq</p>
<p>http://csb5.github.io/lofreq/installation/</p>
<p>https://github.com/CSB5/lofreq/tree/master/dist</p><p>Address of the bookmark: <a href="http://csb5.github.io/lofreq/" rel="nofollow">http://csb5.github.io/lofreq/</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43661/maftools</guid>
	<pubDate>Fri, 17 Dec 2021 03:18:28 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43661/maftools</link>
	<title><![CDATA[maftools]]></title>
	<description><![CDATA[<p>With advances in Cancer Genomics, <a href="https://docs.gdc.cancer.gov/Data/File_Formats/MAF_Format/">Mutation Annotation Format</a> (MAF) is being widely accepted and used to store somatic variants detected. <a href="http://cancergenome.nih.gov">The Cancer Genome Atlas</a> Project has sequenced over 30 different cancers with sample size of each cancer type being over 200. <a href="https://wiki.nci.nih.gov/display/TCGA/TCGA+MAF+Files">Resulting data</a> consisting of somatic variants are stored in the form of <a href="https://docs.gdc.cancer.gov/Data/File_Formats/MAF_Format/">Mutation Annotation Format</a>. This package attempts to summarize, analyze, annotate and visualize MAF files in an efficient manner from either TCGA sources or any in-house studies as long as the data is in MAF format.</p>
<p>https://www.bioconductor.org/packages/devel/bioc/vignettes/maftools/inst/doc/maftools.html</p><p>Address of the bookmark: <a href="https://github.com/PoisonAlien/maftools" rel="nofollow">https://github.com/PoisonAlien/maftools</a></p>]]></description>
	<dc:creator>Surabhi Chaudhary</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/7288/critical-to-discoveries-in-bioinformatics</guid>
	<pubDate>Mon, 16 Dec 2013 17:13:24 -0600</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/7288/critical-to-discoveries-in-bioinformatics</link>
	<title><![CDATA[Critical to discoveries in bioinformatics]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/MnKvMP8CeSQ" frameborder="0" allowfullscreen></iframe>EMBL-EBI distributes datasets worldwide using the Janet network. This biological data enables the discovery of new drugs, new diagnostics and increasingly new agro-chemicals.  Their work, which includes the 1000-genome project, has generated petabytes of data and this growth is showing no signs of abating.  On-demand bandwidth over Janet will therefore be critical to their ongoing work.]]></description>
	
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/7483/research-associate-indian-institute-of-spices-research</guid>
  <pubDate>Wed, 25 Dec 2013 12:34:43 -0600</pubDate>
  <link></link>
  <title><![CDATA[Research Associate @ INDIAN INSTITUTE OF SPICES RESEARCH]]></title>
  <description><![CDATA[
<p>INDIAN INSTITUTE OF SPICES RESEARCH<br />(Indian Council of Agricultural Research)<br />Marikunnu P.O., Kozhikode – 673 012, Kerala</p>

<p>WALK -IN- TEST CUM INTERVIEW</p>

<p>Walk- in- Test cum Interview (based on test) for the selection of Research Associate (Bioinformatics) &amp; Bioinformatic Trainees under the scheme ‘Distributed Information Sub Centre- DISC’ will be held at this Institute as per details indicated below.</p>

<p>Research Associate</p>

<p>Date of Interview : 21 -01-2014 at 10.00 A.M</p>

<p>Qualifications : a) Essential: Doctorate degree in Bioinformatics or Biotechnology/Life Sciences/Biochemistry with expertise in  Bioinformatics as evidenced by publications.</p>

<p>OR</p>

<p>Three years research experience after MVSc/MPharm/ME/MTech with Bioinformatics  Specialization.</p>

<p>b Desirable: Experience in handling NGS data  Programming skills in Python/Bioperl</p>

<p>Emoluments : Rs:22000/- per month + HRA (higher pay upto Rs.24000/- can be paid  depending on the qualifications and experience.</p>

<p>Upper age limit : 40 years for Men &amp; 45 years for Women as on date of Interview (Upper Age limits are relaxable for SC, ST and OBC candidates as per Govt. of India norms (at present 5 years for SC/ST and 3 years for OBC)</p>

<p>Duration of Project : Till the closure of the project.</p>

<p>General Terms and conditions</p>

<p>1. The above positions are purely on temporary basis and is co-terminus with the closure of the project. There is no provision of re-employment after termination of project. The selected candidate will not have any right for claiming pay scale or absorption against any regular post being vacant on a later date at this Institute.<br />2 . No TA/DA will be paid for attending the Interview.<br />3. Canvassing in any form will lead to cancellation of candidate.<br />4. The decision of Director, IISR would be final and binding in all aspects.<br />5. Candidates will not be permitted to enter the Examination Hall after 10.00 A.M.<br />6. Candidates who secure the minimum marks prescribed by the Institute in written test  only will be eligible for calling for the interview. The number of candidates to be  called for the interview will be decided by the Director of the Institute.<br />7 Those who do not possess original Degree/PG certificate or Provisional certificate will not be allowed to attend the Test/Interview.</p>

<p>Note: All relevant certificates (in original) and bio data<br />No objection certificate in case he/she is employed elsewhere and experience certificate in original (if any) need to be produced at the time of interview.<br />Location of IISR Kozhikode Main Campus - Pallithazham bus stop between Moozhikkal East and Chelavoor on the NH 212 ”Kozhikode - Kollegal” Road.</p>

<p>Advertisement:  www.spices.res.in/pdf/DISC-Website.pdf</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/7913/the-genome-factory</guid>
	<pubDate>Thu, 16 Jan 2014 02:09:31 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/7913/the-genome-factory</link>
	<title><![CDATA[The genome factory !!!]]></title>
	<description><![CDATA[<p>Illumina, Inc. announced Tuesday that its new HiSeq X Ten Sequencing System has broken the &ldquo;sound barrier&rdquo; of human genomics by enabling the $1,000 genome. &ldquo;This platform includes dramatic technology breakthroughs that enable researchers to undertake studies of unprecedented scale by providing the throughput to sequence tens of thousands of human whole genomes in a single year in a single lab,&rdquo; Illumina stated.</p><p>Initial customers for the HiSeq X Ten System, which will ship in Q1 2014, include Macrogen, based in Seoul, South Korea and its CLIA laboratory in Rockville, Maryland, the Broad Institute in Cambridge, Massachusetts, and the Garvan Institute of Medical Research in Sydney, Australia.</p><p>&ldquo;For the first time, it looks like it will be possible to deliver the $1,000 genome, which is tremendously exciting,&rdquo; said Eric Lander, founding director of the Broad Institute and a professor of biology at MIT. &ldquo;The HiSeq X Ten should give us the ability to analyze complete genomic information from huge sample populations. Over the next few years, we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine.&rdquo;</p><p>&ldquo;The HiSeq X Ten is an ideal platform for scientists and institutions focused on the discovery of genotypic variation to enable a deeper understanding of human biology and genetic disease,&rdquo; Illumina stated. &ldquo;It can sequence tens of thousands of samples annually with high-quality, high-coverage sequencing, delivering a comprehensive catalog of human variation within and outside coding regions.&rdquo;</p><p>HiSeq X Ten utilizes a number of advanced design features to generate massive throughput. Patterned flow cells, which contain billions of nanowells at fixed locations, combined with a new clustering chemistry deliver a significant increase in data density (6 billion clusters per run). Using state-of-the art optics and faster chemistry, HiSeq X Ten can process sequencing flow cells more quickly than ever before &mdash; generating a 10x increase in daily throughput when compared to current HiSeq 2500 performance.</p><p>The HiSeq X Ten is sold as a set of 10 or more ultra-high throughput sequencing systems, each generating up to 1.8 terabases (Tb) of sequencing data in less than three days or up to 600 gigabases (Gb) per day, per system, providing the throughput to sequence tens of thousands of high-quality, high-coverage genomes per year. Illumina says the $1,000 includes typical instrument depreciation, DNA extraction, library preparation, and estimated labor.</p>]]></description>
	<dc:creator>Madhvan Reddy</dc:creator>
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