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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/28915?offset=250</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/11355/genomics-and-personalized-medicine-breakthroughs</guid>
	<pubDate>Sun, 01 Jun 2014 23:40:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/11355/genomics-and-personalized-medicine-breakthroughs</link>
	<title><![CDATA[Genomics and Personalized Medicine Breakthroughs]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/VAR-1vNc0TE" frameborder="0" allowfullscreen></iframe>http://bit.ly/e8QGzY Human genome mapping is now enabling a breakthrough in medical innovation -- personalized medicine. What does this mean for patients? We can now identify predispositions to disease, predict how we metabolize drugs, and figure out what kinds of treatments we may respond to, and even determine when a drug may give us an adverse reaction. All medical specialties benefit from human genome intelligence -- oncology saw the first impacts -- but advances are now being seen in cardiology, obstetrics and gynecology, pediatric diseases, gastroenterology, rheumatology, immunology and other areas. This video covers the areas that genetic medicine is impacting and where the future of genomic medicine is heading.]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43364/ragtag-a-collection-of-software-tools-for-scaffolding-and-improving-modern-genome-assemblies</guid>
	<pubDate>Sat, 11 Sep 2021 00:28:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43364/ragtag-a-collection-of-software-tools-for-scaffolding-and-improving-modern-genome-assemblies</link>
	<title><![CDATA[RagTag: a collection of software tools for scaffolding and improving modern genome assemblies]]></title>
	<description><![CDATA[<p>RagTag is a collection of software tools for scaffolding and improving modern genome assemblies. Tasks include:</p>
<ul>
<li>Homology-based misassembly&nbsp;<a href="https://github.com/malonge/RagTag/wiki/correct">correction</a></li>
<li>Homology-based assembly&nbsp;<a href="https://github.com/malonge/RagTag/wiki/scaffold">scaffolding</a>&nbsp;and&nbsp;<a href="https://github.com/malonge/RagTag/wiki/patch">patching</a></li>
<li>Scaffold&nbsp;<a href="https://github.com/malonge/RagTag/wiki/merge">merging</a></li>
</ul><p>Address of the bookmark: <a href="https://github.com/malonge/RagTag" rel="nofollow">https://github.com/malonge/RagTag</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/43728/short-read-assembly-using-spades</guid>
	<pubDate>Mon, 31 Jan 2022 07:18:16 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/43728/short-read-assembly-using-spades</link>
	<title><![CDATA[Short-read assembly using Spades !]]></title>
	<description><![CDATA[<h2 id="short-read-assembly-a-comparison">If we only had Illumina reads, we could also assemble these using the tool Spades.</h2><p>You can try this here, or try it later on your own data.</p><h2 id="get-data">Get data</h2><p>We will use the same Illumina data as we used above:</p><ul>
<li>illumina_R1.fastq.gz: the Illumina forward reads</li>
<li>illumina_R2.fastq.gz: the Illumina reverse reads</li>
</ul><h2 id="assemble">Assemble</h2><p>Run Spades:</p><div><pre>spades.py -1 illumina_R1.fastq.gz -2 illumina_R2.fastq.gz --careful --cov-cutoff auto -o spades_assembly_all_illumina
</pre></div><ul>
<li><code>-1</code>&nbsp;is input file of forward reads</li>
<li><code>-2</code>&nbsp;is input file of reverse reads</li>
<li><code>--careful</code>&nbsp;minimizes mismatches and short indels</li>
<li><code>--cov-cutoff auto</code>&nbsp;computes the coverage threshold (rather than the default setting, &ldquo;off&rdquo;)</li>
<li><code>-o</code>&nbsp;is the output directory</li>
</ul><h2 id="results">Results</h2><p>Move into the output directory and look at the contigs:</p><div><pre>infoseq contigs.fasta</pre></div>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/12288/genomic-medicine-bruce-korf-2014</guid>
	<pubDate>Tue, 24 Jun 2014 07:58:44 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/12288/genomic-medicine-bruce-korf-2014</link>
	<title><![CDATA[Genomic Medicine - Bruce Korf (2014)]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/FYldIrsXHKw" frameborder="0" allowfullscreen></iframe>May 21, 2014 - Current Topics in Genome Analysis 2014
A lecture series covering contemporary areas in genomics and bioinformatics. More: http://www.genome.gov/COURSE2014]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/44377/mitochondrial-genome-assembly-tools</guid>
	<pubDate>Wed, 06 Sep 2023 00:37:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/44377/mitochondrial-genome-assembly-tools</link>
	<title><![CDATA[Mitochondrial genome assembly tools !]]></title>
	<description><![CDATA[<p>Mitochondrial genome assembly tools are specialized software and algorithms designed to accurately reconstruct the mitochondrial genome (mitogenome) from sequencing data, typically obtained through techniques like next-generation sequencing (NGS). The mitochondrial genome is relatively small compared to the nuclear genome, making it an ideal target for assembly. Here are some commonly used mitochondrial genome assembly tools:</p><p><strong>MitoFinder:</strong> Mitofinder is a pipeline to assemble mitochondrial genomes and annotate mitochondrial genes from trimmed read sequencing data.</p><p><strong>MitoHiFi:</strong> a python pipeline for mitochondrial genome assembly from PacBio high fidelity reads</p><p>MITObim: MITObim is a tool specifically developed for the iterative assembly of mitochondrial genomes. It starts with a reference mitogenome and iteratively refines the assembly using the read data.</p><p><strong>MITOS:</strong> MITOS is a web-based platform that provides a pipeline for annotating mitochondrial genomes. It integrates multiple software tools for assembly, annotation, and visualization of mitogenomes.</p><p><strong>MIRA:</strong> MIRA (Mimicking Intelligent Read Assembly) is a versatile genome assembly tool that can be used for mitochondrial genome assembly. It supports various sequencing technologies and allows for reference-based or de novo assembly.</p><p><strong>NOVOPlasty:</strong> NOVOPlasty is a user-friendly tool designed for de novo assembly of organelle genomes, including mitochondria. It utilizes a seed-and-extend algorithm and is suitable for both short-read and long-read data.</p><p><strong>MITOS2:</strong> MITOS2 is an updated version of the MITOS pipeline, which automates the annotation of mitochondrial genomes. It provides improved accuracy and additional features for mitochondrial genome analysis.</p><p><strong>GetOrganelle:</strong> While primarily designed for chloroplast genome assembly, GetOrganelle can also be used for mitochondrial genome assembly. It is particularly useful for dealing with high-throughput sequencing data.</p><p><strong>SPAdes:</strong> SPAdes (St. Petersburg genome assembler) is a versatile genome assembly tool that can be employed for mitochondrial genome assembly, especially when dealing with complex datasets that may contain nuclear mitochondrial DNA sequences (numts).</p><p><strong>IDBA-UD:</strong> IDBA-UD (Iterative De Bruijn Graph De Novo Assembler) is another de novo assembly tool that can be used for mitochondrial genome assembly, especially in cases with relatively low coverage.</p><p><strong>Velvet:</strong> Velvet is a de novo assembly tool that can be applied to mitochondrial genome assembly, especially when working with short-read data.</p><p>When selecting a mitochondrial genome assembly tool, it's important to consider the specific characteristics of your sequencing data, such as read length and coverage, as well as the complexity of the mitochondrial genome. Additionally, some tools are better suited for specific organisms or research objectives, so choosing the right tool will depend on your particular project requirements.</p>]]></description>
	<dc:creator>Abhi</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12787/integrative-genomics-viewer-igv-tutorial</guid>
	<pubDate>Sat, 12 Jul 2014 15:16:23 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12787/integrative-genomics-viewer-igv-tutorial</link>
	<title><![CDATA[Integrative Genomics Viewer (IGV) tutorial]]></title>
	<description><![CDATA[<p>The <a href="http://www.broadinstitute.org/igv/">Integrative Genomics Viewer (IGV)</a> from the Broad Center allows you to view several types of data files involved in any NGS analysis that employs a reference genome, including how reads from a dataset are mapped, gene annotations, and predicted genetic variants.</p>
<p>http://www.broadinstitute.org/igv/</p><p>Address of the bookmark: <a href="https://wikis.utexas.edu/display/bioiteam/Integrative+Genomics+Viewer+%28IGV%29+tutorial" rel="nofollow">https://wikis.utexas.edu/display/bioiteam/Integrative+Genomics+Viewer+%28IGV%29+tutorial</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12963/cosmos-our-workflow-management-system-for-ngs-data</guid>
	<pubDate>Wed, 23 Jul 2014 07:29:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12963/cosmos-our-workflow-management-system-for-ngs-data</link>
	<title><![CDATA[COSMOS, our workflow management system for NGS data]]></title>
	<description><![CDATA[<p><strong>COSMOS</strong>, our Python-based management system for implementing large-scale parallel workflows focusing on, but not restricted to, large-scale short-read "NGS" sequencing data is open-access published via <a href="http://bioinformatics.oxfordjournals.org/content/early/2014/06/29/bioinformatics.btu385.abstract">Advance Access</a> in <em>Bioinformatics</em> (<a href="http://scholar.harvard.edu/lancaster/publications/cosmos-python-library-massively-parallel-workflows">Gafni et al. 2014</a>).&nbsp; It is also available for download for non-commercial academic and research purposes at:</p>
<p><strong>&nbsp;<a href="http://cosmos.hms.harvard.edu/">http://cosmos.hms.harvard.edu/</a></strong>.</p><p>Address of the bookmark: <a href="https://cosmos.hms.harvard.edu/" rel="nofollow">https://cosmos.hms.harvard.edu/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/26179/alignment-of-closely-related-whole-genomesscaffolds</guid>
	<pubDate>Fri, 29 Jan 2016 10:37:27 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/26179/alignment-of-closely-related-whole-genomesscaffolds</link>
	<title><![CDATA[Alignment of closely related whole genomes/scaffolds]]></title>
	<description><![CDATA[<p>With the relative ease and low cost of current generation sequencing technologies has led to a dramatic increase in the number of sequenced genomes for species across the tree of life. This increasing volume of data requires tools that can quickly compare multiple whole-genome sequences, millions of base pairs in length, to aid in the study of populations, pan-genomes, and genome evolution.This bookmaks have been created to report new tools for whole genome alignments.</p>
<p>Please report new whole genome alignment tools under comment sections.</p><p>Address of the bookmark: <a href="http://www.cs.utoronto.ca/~brudno/721.full.pdf" rel="nofollow">http://www.cs.utoronto.ca/~brudno/721.full.pdf</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/35571/medusa-a-multi-draft-based-scaffolder</guid>
	<pubDate>Wed, 14 Feb 2018 02:49:00 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/35571/medusa-a-multi-draft-based-scaffolder</link>
	<title><![CDATA[MeDuSa: a multi-draft based scaffolder]]></title>
	<description><![CDATA[<p><span>MeDuSa (Multi-Draft based Scaffolder), an algorithm for genome scaffolding. MeDuSa exploits information obtained from a set of (draft or closed) genomes from related organisms to determine the correct order and orientation of the contigs. MeDuSa formalises the scaffolding problem by means of a combinatorial optimisation formulation on graphs and implements an efficient constant factor approximation algorithm to solve it. In contrast to currently used scaffolders, it does not require either prior knowledge on the microrganisms dataset under analysis (e.g. their phylogenetic relationships) or the availability of paired end read libraries.&nbsp;</span></p><p>Address of the bookmark: <a href="https://github.com/combogenomics/medusa" rel="nofollow">https://github.com/combogenomics/medusa</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/14756/roderic-guigo-lab</guid>
  <pubDate>Mon, 01 Sep 2014 17:13:00 -0500</pubDate>
  <link></link>
  <title><![CDATA[Roderic Guigó Lab]]></title>
  <description><![CDATA[
<p>Research in our group focuses on the investigation of the signals involved in gene specification in genomic sequences (promoter elements, splice sites, translation initiation sites, etc…). We are interested both in the mechanism of their recognition and processing, and in their evolution. In addition, but related to this basic component of our research, our group is also involved in the development of software for gene prediction and annotation in genomic sequences. Our group also actively participates in the analysis of many eukaryotic genomes and it in involved in the NIH-funded ENCODE project. Furthermore we are members of two large cancer-studies consortia (chronic lymphocytic leukemia "CLL" and Breast Cancer -Hospital del Mar/CRG/Roche-).  <br /> <br />More at http://big.crg.cat/computational_biology_of_rna_processing</p>
]]></description>
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