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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/45303?offset=380</link>
	<atom:link href="https://bioinformaticsonline.com/related/45303?offset=380" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	<item>
	<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/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>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43801/smudgeplot-inference-of-ploidy-and-heterozygosity-structure-using-whole-genome-sequencing-data</guid>
	<pubDate>Fri, 25 Feb 2022 04:42:09 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43801/smudgeplot-inference-of-ploidy-and-heterozygosity-structure-using-whole-genome-sequencing-data</link>
	<title><![CDATA[Smudgeplot: Inference of ploidy and heterozygosity structure using whole genome sequencing data]]></title>
	<description><![CDATA[<p dir="auto">This tool extracts heterozygous kmer pairs from kmer count databases and performs gymnastics with them. We are able to disentangle genome structure by comparing the sum of kmer pair coverages (CovA + CovB) to their relative coverage (CovB / (CovA + CovB)). Such an approach also allows us to analyze obscure genomes with duplications, various ploidy levels, etc.</p>
<p dir="auto">Smudgeplots are computed from raw or even better from trimmed reads and show the haplotype structure using heterozygous kmer pairs. For example:</p>
<p dir="auto"><a href="https://user-images.githubusercontent.com/8181573/45959760-f1032d00-c01a-11e8-8576-ff0512c33da9.png" target="_blank"><img src="https://user-images.githubusercontent.com/8181573/45959760-f1032d00-c01a-11e8-8576-ff0512c33da9.png" alt="smudgeexample" style="border: 0px;"></a></p><p>Address of the bookmark: <a href="https://github.com/KamilSJaron/smudgeplot" rel="nofollow">https://github.com/KamilSJaron/smudgeplot</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43867/genomeqc-a-quality-assessment-tool-for-genome-assemblies-and-gene-structure-annotations</guid>
	<pubDate>Thu, 19 May 2022 04:29:05 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43867/genomeqc-a-quality-assessment-tool-for-genome-assemblies-and-gene-structure-annotations</link>
	<title><![CDATA[GenomeQC: a quality assessment tool for genome assemblies and gene structure annotations]]></title>
	<description><![CDATA[<p><span>The GenomeQC web application is implemented in R/Shiny version 1.5.9 and Python 3.6 and is freely available at&nbsp;</span><a href="https://genomeqc.maizegdb.org/">https://genomeqc.maizegdb.org/</a><span>&nbsp;under the GPL license. All source code and a containerized version of the GenomeQC pipeline is available in the GitHub repository&nbsp;</span><a href="https://github.com/HuffordLab/GenomeQC">https://github.com/HuffordLab/GenomeQC</a><span>.</span></p>
<p>https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-020-6568-2</p><p>Address of the bookmark: <a href="https://github.com/HuffordLab/GenomeQC" rel="nofollow">https://github.com/HuffordLab/GenomeQC</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/44352/bioinformatics-tools-for-genome-assembly</guid>
	<pubDate>Mon, 24 Jul 2023 07:04:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/44352/bioinformatics-tools-for-genome-assembly</link>
	<title><![CDATA[Bioinformatics tools for genome assembly !]]></title>
	<description><![CDATA[<p>There are numerous genome assembly tools available, each with its strengths and weaknesses. Here is a list of some widely used genome assembly tools as of my last update in September 2021:</p><ol>
<li>
<p><span>SPAdes:</span> An assembler specifically designed for single-cell and multi-cell bacterial genomes, as well as small eukaryotic genomes.</p>
</li>
<li>
<p><span>ABySS:</span> A parallelized assembler for large genomes that uses de Bruijn graphs.</p>
</li>
<li>
<p><span>Velvet:</span> Another de Bruijn graph-based assembler optimized for short-read sequencing data.</p>
</li>
<li>
<p><span>SOAPdenovo:</span> A de Bruijn graph-based assembler designed for short reads, widely used for assembling large and complex genomes.</p>
</li>
<li>
<p><span>MaSuRCA:</span> A hybrid assembler that combines data from multiple sequencing technologies, such as Illumina and PacBio.</p>
</li>
<li>
<p><span>Canu:</span> A long-read assembler optimized for PacBio and Oxford Nanopore sequencing data.</p>
</li>
<li>
<p><span>Flye:</span> A long-read assembler suitable for bacterial and small eukaryotic genomes.</p>
</li>
<li>
<p><span>SMARTdenovo:</span> An assembler designed for long reads, particularly suited for PacBio data.</p>
</li>
<li>
<p><span>SPAdes Long Read (SPAdesLR):</span> An extension of SPAdes for long-read data, such as those from PacBio or Nanopore.</p>
</li>
<li>
<p><span>Minia:</span> An assembler optimized for low memory consumption, suitable for small and medium-sized genomes.</p>
</li>
<li>
<p><span>Unicycler:</span> A hybrid assembler that combines short and long reads for circular bacterial genome assembly.</p>
</li>
<li>
<p><span>wtdbg2:</span> A de Bruijn graph assembler for long reads, efficient for very large genomes.</p>
</li>
<li>
<p><span>Shasta:</span> A long-read assembler that uses the Overlap-Layout-Consensus approach, suitable for PacBio and Nanopore data.</p>
</li>
<li>
<p><span>Sparc:</span> An assembler designed to handle noisy long reads from Nanopore sequencing.</p>
</li>
<li>
<p><span>CANA:</span> An assembler for metagenomic data, particularly for complex and diverse microbial communities.</p>
</li>
<li>
<p><span>Ra</span> Assembler: A metagenome assembler for long reads, designed for highly complex metagenomic samples.</p>
</li>
</ol><p>Please note that the field of bioinformatics is constantly evolving, and new assembly tools may have emerged since my last update. Additionally, the performance of these tools can vary depending on the characteristics of the sequencing data and the genome being assembled. When selecting an assembly tool, consider the specific requirements of your project, the available data types, and the computational resources at your disposal. Always refer to the respective tool's documentation and publications for the most up-to-date information and recommendations.</p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44483/baclife-an-automated-genome-mining-tool-for-identification-of-lifestyle-associated-genes</guid>
	<pubDate>Fri, 15 Mar 2024 04:59:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44483/baclife-an-automated-genome-mining-tool-for-identification-of-lifestyle-associated-genes</link>
	<title><![CDATA[bacLIFE: an automated genome mining tool for identification of lifestyle associated genes]]></title>
	<description><![CDATA[<p style="margin-top: 0px; margin-bottom: 16px; color: #1f2328; font-size: 16px; font-style: normal; font-weight: 400; text-align: start; background-color: #ffffff;" dir="auto">bacLIFE is a streamlined computational workflow that annotates bacterial genomes and performs large-scale comparative genomics to predict bacterial lifestyles and to pinpoint candidate genes, denominated<span>&nbsp;</span><strong style="font-weight: var(--base-text-weight-semibold, 600);">lifestyle-associated genes (LAGs)</strong>, and biosynthetic gene clusters associated with each lifestyle detected. This whole process is divided into different modules:</p>
<ul style="margin-top: 0px; margin-bottom: 16px; color: #1f2328; font-size: 16px; font-style: normal; font-weight: 400; text-align: start; background-color: #ffffff;" dir="auto">
<li><strong style="font-weight: var(--base-text-weight-semibold, 600);">Clustering module</strong><span>&nbsp;</span>Predicts, clusters and annotates the genes of every input genome</li>
<li style="margin-top: 0.25em;"><strong style="font-weight: var(--base-text-weight-semibold, 600);">Lifestyle prediction</strong><span>&nbsp;</span>Employs a machine learning model to forecast bacterial lifestyle or other specified metadata</li>
<li style="margin-top: 0.25em;"><strong style="font-weight: var(--base-text-weight-semibold, 600);">Analitical module (Shiny app)</strong><span>&nbsp;</span>Results from the previous modules are embedded in a user-friendly interface for comprehensive and interactive comparative genomics.</li>
</ul>
<p style="margin-top: 0px; margin-bottom: 16px; color: #1f2328; font-size: 16px; font-style: normal; font-weight: 400; text-align: start; background-color: #ffffff;" dir="auto">You can find the complete wiki here [<a href="https://github.com/Carrion-lab/bacLIFE/wiki/bacLIFE-wiki">https://github.com/Carrion-lab/bacLIFE/wiki/bacLIFE-wiki</a>]</p><p>Address of the bookmark: <a href="https://github.com/Carrion-lab/bacLIFE" rel="nofollow">https://github.com/Carrion-lab/bacLIFE</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45278/the-day-we-began-reading-the-dna-of-the-world</guid>
	<pubDate>Sat, 05 Sep 2026 01:43:21 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45278/the-day-we-began-reading-the-dna-of-the-world</link>
	<title><![CDATA[The Day We Began Reading the DNA of the World]]></title>
	<description><![CDATA[<div>Picture waking up and knowing that in one lab, a scientist is reading the DNA of a whale. In another, a team is sequencing a rare plant. Meanwhile, researchers in India are decoding the genomes of different human populations.</div><div>&nbsp;</div><div>Many organisms. Many countries. All share one remarkable goal: to understand the genetic story of life.</div><div>DNA is nature's instruction manual, written with just four letters: A, T, C, and G. For years, scientists could only read small sections of this huge book. Now, new sequencing technology lets us read entire genomes like never before.</div><div>&nbsp;</div><div>One of the most ambitious projects is the Earth BioGenome Project (EBP). Its goal is to create reference genomes for about 1.5 million known eukaryotic species. This project links genome research across continents, species, and scientific fields.</div><div>&nbsp;</div><div>But this story goes beyond just animals and plants.</div><div>&nbsp;</div><div><strong>A New Chapter in Human Genomics</strong></div><div>&nbsp;</div><div>Large human genome projects are changing how we understand our own genetic diversity.</div><div>India's GenomeIndia project has sequenced thousands of people from different populations. This work is uncovering genetic variation that global databases have often missed.</div><div>&nbsp;</div><div>Similar population-scale effSimilar large-scale projects are happening worldwide. The All of Us Research Program in the United States, Europe's 1+ Million Genomes initiative, South Korea's national genomic data program, and projects in Saudi Arabia, Australia, and Singapore are all building huge genomic resources.collect DNA.</div><div>&nbsp;</div><div>The real goal is to link genomes with health, disease, and other biological information. This creates a base for more accurate research and, in time, more personalized medicine.</div><div>&nbsp;</div><div><strong>A Race Against Time</strong></div><div>&nbsp;</div><div>There is also an important twist.</div><div>&nbsp;</div><div>We are sequencing Earth's biodiversity even as many species face growing environmental threats.</div><div>A genome alone cannot save a species, but it does keep important information about its biology, evolution, and genetic diversity. This knowledge helps scientists understand risks, guide conservation, and find traits that could help agriculture or medicine.</div><div>&nbsp;</div><div>Projects like the Darwin Tree of Life, which studies species in Britain and Ireland, and the African BioGenome Project, which is growing genomics work across Africa, are key parts of this worldwide effort.</div><div>&nbsp;</div><div>Projects to Watch</div><ol>
<li>Earth BioGenome Project (EBP) - A global effort to sequence and annotate roughly 1.5 million known eukaryotic species and create a comprehensive reference library of Earth's biodiversity.</li>
<li>Vertebrate Genomes Project (VGP) - Focuses on producing high-quality reference genomes for vertebrate species, providing a major foundation for the wider Tree of Life.</li>
<li>Darwin Tree of Life - A UK and Ireland initiative aiming to sequence approximately 70,000 species, creating a detailed genomic map of regional biodiversity.</li>
<li>African BioGenome Project (AfricaBP) - A pan-African initiative focused on sequencing Africa's biodiversity while strengthening genomics and bioinformatics capacity across the continent.</li>
<li>European Reference Genome Atlas (ERGA) - A European effort to generate high-quality reference genomes for Europe's biodiversity and connect national sequencing efforts.</li>
<li>Canada BioGenome Project - Building reference genomes for Canadian biodiversity, supporting conservation, research and the study of ecosystems.</li>
<li>California Conservation Genomics Project - Uses genomics to understand and protect California's biodiversity and help inform conservation decisions.</li>
<li>Bat1K - An ambitious global effort to sequence the genomes of all known bat species, helping scientists study their evolution, longevity, immunity and unique biology.</li>
<li>Bird 10,000 (B10K) - A global project aiming to create genome resources covering the world's bird diversity and reconstruct avian evolutionary history.</li>
<li>Global Invertebrate Genomics Alliance (GIGA) - Builds genomic resources for the enormous and genetically diverse world of invertebrates.</li>
<li>GenomeIndia - India's national human-genome initiative, designed to capture the country's extraordinary population diversity and create a reference resource for Indian genomics.</li>
<li>All of Us Research Program - A US national research program combining genomic information with health and lifestyle data at population scale.</li>
<li>1+ Million Genomes / Genome of Europe - A European effort to enable secure, cross-border use of genomic and health data and develop genome-scale resources involving more than one million people.</li>
<li>Korea National Integrated Bio Big Data Project - South Korea's large-scale national effort combining genomic and health information from a very large population cohort.</li>
<li>Saudi Genome Program - A national genomics initiative focused on genetic diseases, population genomics and precision medicine in Saudi Arabia.</li>
<li>Australian Genomics / Genomics Health Futures Mission - Australia's growing investment in genomic medicine, rare disease research and population-scale health genomics.</li>
</ol><div><strong>The Library of Life</strong></div><div>&nbsp;</div><div>The fuThe future of genomics is not just about sequencing one genome at a time. Now, it is about creating a worldwide network of genomes&mdash;human and non-human, individual and species&mdash;linked by powerful databases and advanced computational tools.ine a library without shelves.</div><div>&nbsp;</div><div>In this library, the books are genomes. The pages are made of DNA. Scientists and machines are the readers. And this library is still being written. Each genome sequenced today adds a new page to the story of life and helps us better understand our place in it.</div>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/6458/bigre-lab</guid>
  <pubDate>Sun, 17 Nov 2013 10:35:49 -0600</pubDate>
  <link></link>
  <title><![CDATA[BIGRE Lab]]></title>
  <description><![CDATA[
<p>The Laboratoire de Bioinformatique des Génomes et des Réseaux (Genome and Network Bioinformatics) is specialized in the conception, implementation, evaluation and application of bioinformatics approaches for the analysis of genome, transcriptome, proteome and metabolism.<br />Our main activities include</p>

<p>Analysis of regulatory sequences (RSAT project)<br />Classification and analysis of mobile genetic elements (ACLAME project).<br />Analysis of molecular interaction networks (NeAT project)<br />Inference of metabolic pathways from genomic and post-genomic data <br />(metabolic pathfinding, see also metabolic pathfinding in NeAT)<br />Critical assesment of protein interactions (CAPRI)</p>

<p>Lab Page http://www.bigre.ulb.ac.be/</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/4158/sorghum-genome-sequenced</guid>
	<pubDate>Sun, 01 Sep 2013 19:46:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/4158/sorghum-genome-sequenced</link>
	<title><![CDATA[Sorghum genome Sequenced!!]]></title>
	<description><![CDATA[<p>Sorghum, a staple food for 500 million resource-poor people in marginal environments and a model for other important crops, sorghum holds vital genetic resources as humanity confronts the nexus of food crisis and climate change. The recent research provides an unmatched resource to respond to these challenges by identifying a large high-quality SNP and indel data set in diverse sorghum genotypes.</p><p>In addition to providing a broad sample of the diversity in S. bicolor, the genotypes included in this study are known to display agronomically important traits including stay-green drought resistance, insect resistance, grain size and grain quality.</p><p>Find more at&nbsp;http://www.nature.com/ncomms/2013/130827/ncomms3320/full/ncomms3320.html</p><p>&nbsp;</p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/4961/genetics-epigenetics-and-disease</guid>
	<pubDate>Fri, 27 Sep 2013 11:32:55 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/4961/genetics-epigenetics-and-disease</link>
	<title><![CDATA[Genetics, epigenetics and disease]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/SHpfkNRscOc" frameborder="0" allowfullscreen></iframe>Royal Society GlaxoSmithKline Prize Lecture given by Professor Adrian Bird CBE FMedSci FRS on Tuesday 22 January 2013.

Adrian Bird CBE FMedSci FRS is the Buchanan Chair of Genetics at the University of Edinburgh.

The human genome sequence has been available for more than a decade, but its significance is still not fully understood. While most human genes have been identified, there is much to learn about the DNA signals that control them. This lecture described an unusually short DNA sequence, just two base pairs long, CG, which occurs in several chemically different forms. Defects in signalling by CG are implicated in disease. For example, the autism spectrum disorder Rett syndrome is caused by loss of a protein that reads methylated CG and affects the activity of genes.

The Royal Society GlaxoSmithKline Prize Lecture is awarded for original contributions to medical and veterinary sciences published within ten years from the date of the award.]]></description>
	
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