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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/26729?offset=40</link>
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	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37993/platypus-a-haplotype-based-variant-caller-for-next-generation-sequence-data</guid>
	<pubDate>Thu, 25 Oct 2018 06:14:55 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37993/platypus-a-haplotype-based-variant-caller-for-next-generation-sequence-data</link>
	<title><![CDATA[Platypus: A Haplotype-Based Variant Caller For Next Generation Sequence Data]]></title>
	<description><![CDATA[<p><strong>Platypus</strong><span>&nbsp;is a tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect SNPs, MNPs, short indels, replacements and (using the assembly option) deletions up to several kb. It has been extensively tested on&nbsp;</span><a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24463883">whole-genome</a><span>,&nbsp;</span><a href="http://www.nature.com/ng/journal/v45/n1/abs/ng.2492.html">exon-capture</a><span>, and&nbsp;</span><a href="http://www.nature.com/nature/journal/v493/n7432/abs/nature11725.html">targeted capture</a><span>&nbsp;data, it has been run on very large datasets as part of the&nbsp;</span><a href="http://www.1000genomes.org/">Thousand Genomes</a><span>&nbsp;and WGS500 projects, and is being used in clinical sequencing trials in the&nbsp;</span><a href="http://www.mcgprogramme.com/">Mainstreaming Cancer Genetics</a><span>&nbsp;programme.&nbsp;</span></p>
<p><span>Tutorial&nbsp;https://github.com/andyrimmer/Platypus/blob/master/misc/README.txt</span></p><p>Address of the bookmark: <a href="http://www.well.ox.ac.uk/platypus" rel="nofollow">http://www.well.ox.ac.uk/platypus</a></p>]]></description>
	<dc:creator>Shruti Paniwala</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39875/lrsday-long-read-sequencing-data-analysis-for-yeasts</guid>
	<pubDate>Mon, 26 Aug 2019 18:07:33 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39875/lrsday-long-read-sequencing-data-analysis-for-yeasts</link>
	<title><![CDATA[LRSDAY: Long-read Sequencing Data Analysis for Yeasts]]></title>
	<description><![CDATA[<p><span>Long-read sequencing technologies have become increasingly popular in genome projects due to their strengths in resolving complex genomic regions. As a leading model organism with small genome size and great biotechnological importance, the budding yeast,&nbsp;</span><em>Saccharomyces cerevisiae</em><span>, has many isolates currently being sequenced with long reads.&nbsp;</span></p><p>Address of the bookmark: <a href="https://github.com/yjx1217/LRSDAY" rel="nofollow">https://github.com/yjx1217/LRSDAY</a></p>]]></description>
	<dc:creator>Poonam Mahapatra</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/42324/comparative-genomics-data-set-including-240-mammals-released</guid>
	<pubDate>Thu, 19 Nov 2020 06:45:39 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/42324/comparative-genomics-data-set-including-240-mammals-released</link>
	<title><![CDATA[Comparative Genomics Data Set Including 240 Mammals Released !]]></title>
	<description><![CDATA[<p>The genome of 130 mammals was sequenced by a large international consortium and the data was analyzed together with 110 existing genomes to allow scientists to identify the important positions in the DNA. This report, published in Nature today will help advance research on human disease mutations and inform how best to protect endangered species.</p><p>In addition to the knowledge of the human genome, all these genomes, widely sampled across mammals, can be used to research how particular organisms respond to different conditions. Some otters, for example, have a thick, water-resistant shell, and some rodents, but not all, have adapted to hibernation. These animal traits will help us to understand human traits, such as metabolic diseases.</p><p><img src="https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41586-020-2876-6/MediaObjects/41586_2020_2876_Fig1_HTML.png?as=webp" alt="image" style="border: 0px; border: 0px;"></p><p>With climate change and more animal ecosystems being threatened by human activity, the protection of endangered species is becoming increasingly important. Scientists have historically researched several people in various populations of a species to understand the genetic variation that occurs in that species. This is important for understanding how particular species can be protected. In this study, animals on the Red List of Endangered Species of the International Union for Conservation of Nature had fewer differences in their genomes, which is consistent with their endangered status.</p><p>Ref @&nbsp;A comparative genomics multitool for scientific discovery and conservation&nbsp;https://www.nature.com/articles/s41586-020-2876-6</p><p>&nbsp;Data at&nbsp;http://zoonomiaproject.org/</p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44545/amr-database</guid>
	<pubDate>Tue, 04 Jun 2024 13:37:21 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44545/amr-database</link>
	<title><![CDATA[AMR Database !]]></title>
	<description><![CDATA[<ul>
<li><a href="http://en.mediterranee-infection.com/article.php?laref=283%26titre=arg-annot">ARG-ANNOT</a>. PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/24145532">24145532</a></li>
<li><a href="https://card.mcmaster.ca/">CARD</a>. PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/23650175">23650175</a></li>
<li><a href="https://megares.meglab.org/">MEGARes</a>&nbsp;PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/27899569">27899569</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/pathogens/isolates#/refgene/">NCBI</a>&nbsp;BioProject:&nbsp;<a href="https://www.ncbi.nlm.nih.gov/bioproject/?term=PRJNA313047">PRJNA313047</a></li>
<li><a href="https://cge.cbs.dtu.dk/services/PlasmidFinder/">plasmidfinder</a>&nbsp;PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/24777092">24777092</a></li>
<li><a href="https://cge.cbs.dtu.dk//services/ResFinder/">resfinder</a>. PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/22782487">22782487</a></li>
<li><a href="http://www.mgc.ac.cn/VFs/">VFDB</a>. PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/26578559">26578559</a></li>
<li><a href="https://github.com/katholt/srst2">SRST2</a>'s version of ARG-ANNOT. PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/25422674">25422674</a>.</li>
<li><a href="https://cge.cbs.dtu.dk/services/VirulenceFinder/">VirulenceFinder</a>&nbsp;PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/24574290">24574290</a>.</li>
</ul><p>Address of the bookmark: <a href="https://github.com/sanger-pathogens/ariba/wiki/Task%3A-getref" rel="nofollow">https://github.com/sanger-pathogens/ariba/wiki/Task%3A-getref</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44852/what-is-data-science-%E2%80%94-a-bioinformatics-perspective</guid>
	<pubDate>Mon, 16 Jun 2025 01:44:34 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44852/what-is-data-science-%E2%80%94-a-bioinformatics-perspective</link>
	<title><![CDATA[What is Data Science? — A Bioinformatics Perspective]]></title>
	<description><![CDATA[<p>In today&rsquo;s era of big biology, we&rsquo;re generating more data than ever before&mdash;genomes, transcriptomes, proteomes, metabolomes, microbiomes&hellip; you name it. But raw biological data doesn&rsquo;t speak for itself. Making sense of it requires more than traditional biology. This is where data science steps in.</p><p><strong>So, What Is Data Science?</strong><br />At its core, data science is the interdisciplinary field that extracts knowledge and insights from data using programming, statistics, and domain expertise. In bioinformatics, data science enables us to turn gigabytes of sequence data into biological meaning.</p><p>Imagine trying to understand gene regulation in cancer by analyzing thousands of RNA-seq samples, or predicting antibiotic resistance from bacterial genomes&mdash;these challenges are not solvable through wet lab experiments alone. They require data-driven thinking.</p><p><strong>Data Science Meets Bioinformatics</strong><br />Bioinformatics is inherently a data science domain. From genomics to systems biology, every field in modern biology relies on data science techniques to:</p><p>Clean and process massive datasets</p><p>Discover patterns in high-dimensional data</p><p>Build predictive models (e.g., for disease classification)</p><p>Visualize complex biological networks and trends</p><p>Integrate diverse data types (e.g., transcriptomic + epigenomic data)</p><p><strong>The Bioinformatics Toolkit</strong><br />Here&rsquo;s what data science typically looks like in bioinformatics:</p><p>Task Data Science Role<br />Sequence alignment Efficient algorithms, indexing, parallel processing<br />Gene expression analysis Statistical modeling (e.g., DESeq2, limma)<br />Variant calling Data filtering, probabilistic models<br />Clustering of cells in single-cell data Unsupervised learning<br />Protein structure prediction Deep learning models (e.g., AlphaFold)<br />Metagenomics Data integration, classification, dimensionality reduction</p><p>Common tools include Python, R, Bioconductor, scikit-learn, Pandas, Seurat, and TensorFlow&mdash;often working together in reproducible workflows.</p><p><strong>It's Not Just About Coding</strong><br />A common misconception is that bioinformatics is just programming or scripting. But being a data scientist in bioinformatics also means:</p><p>Understanding experimental design</p><p>Asking biologically meaningful questions</p><p>Choosing the right statistical or machine learning models</p><p>Communicating findings effectively (e.g., plots, dashboards, papers)</p><p>In other words, data science in bioinformatics is where biology, statistics, and computer science converge.</p><p><strong>Why It Matters</strong><br />The real power of data science in bioinformatics is its ability to scale discovery.</p><p>Instead of studying one gene, we can study thousands.</p><p>Instead of analyzing one species, we can explore entire ecosystems.</p><p>Instead of waiting months for lab results, we can generate hypotheses in days.</p><p>From personalized medicine and cancer diagnostics to agricultural genomics and pandemic surveillance, data science is at the heart of the bioinformatics revolution.</p><p><strong>Final Thoughts</strong><br />If you&rsquo;re a biologist who&rsquo;s curious about code, or a data enthusiast fascinated by life sciences, bioinformatics is your playground&mdash;and data science is your toolkit.</p><p>In bioinformatics, data science isn&rsquo;t just useful. It&rsquo;s essential.</p><p>&nbsp;</p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/9666/phylogenomicsphylogenetic-website</guid>
	<pubDate>Mon, 07 Apr 2014 02:17:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/9666/phylogenomicsphylogenetic-website</link>
	<title><![CDATA[Phylogenomics/Phylogenetic website]]></title>
	<description><![CDATA[<div>
<p>Welcome to phylobabble.org, a discussion forum for phylogenetic theory and applications. The primary goal of this forum is to discuss best practice and new developments in phylogenetics. Although we do have a Troubleshooting category for getting feedback on analyses, this is not a help site for running phylogenetics programs.</p>
<p>A great place to chat about phylogenetics for researchers and the broader community of students and science-interested citizens. </p>
</div><p>Address of the bookmark: <a href="http://phylobabble.org/" rel="nofollow">http://phylobabble.org/</a></p>]]></description>
	<dc:creator>Aaryan Lokwani</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34396/pore-an-r-package-for-the-visualization-and-analysis-of-nanopore-sequencing-data</guid>
	<pubDate>Thu, 23 Nov 2017 09:55:57 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34396/pore-an-r-package-for-the-visualization-and-analysis-of-nanopore-sequencing-data</link>
	<title><![CDATA[poRe: an R package for the visualization and analysis of nanopore sequencing data]]></title>
	<description><![CDATA[<p><strong>Motivation:</strong>&nbsp;The Oxford Nanopore MinION device represents a unique sequencing technology. As a mobile sequencing device powered by the USB port of a laptop, the MinION has huge potential applications. To enable these applications, the bioinformatics community will need to design and build a suite of tools specifically for MinION data.</p>
<p><strong>Results:</strong>&nbsp;Here we present poRe, a package for R that enables users to manipulate, organize, summarize and visualize MinION nanopore sequencing data. As a package for R, poRe has been tested on Windows, Linux and MacOSX. Crucially, the Windows version allows users to analyse MinION data on the Windows laptop attached to the device.</p>
<p><strong>Availability and implementation:</strong>&nbsp;poRe is released as a package for R at&nbsp;<a href="http://sourceforge.net/projects/rpore/" target="">http://sourceforge.net/projects/rpore/</a>&nbsp;. A tutorial and further information are available at&nbsp;<a href="https://sourceforge.net/p/rpore/wiki/Home/" target="">https://sourceforge.net/p/rpore/wiki/Home/</a></p>
<p><strong>Contact:</strong><a href="mailto:mick.watson@roslin.ed.ac.uk" target="">mick.watson@roslin.ed.ac.uk</a></p><p>Address of the bookmark: <a href="https://academic.oup.com/bioinformatics/article/31/1/114/2365693" rel="nofollow">https://academic.oup.com/bioinformatics/article/31/1/114/2365693</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/35249/gpopsim-a-simulation-tool-for-whole-genome-genetic-data</guid>
	<pubDate>Wed, 17 Jan 2018 03:47:46 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/35249/gpopsim-a-simulation-tool-for-whole-genome-genetic-data</link>
	<title><![CDATA[GPOPSIM: a simulation tool for whole-genome genetic data]]></title>
	<description><![CDATA[<p><span>GPOPSIM is a simulation tool for pedigree, phenotypes, and genomic data, with a variety of population and genome structures and trait genetic architectures. It provides flexible parameter settings for a wide discipline of users, especially can simulate multiple genetically correlated traits with desired genetic parameters and underlying genetic architectures.</span></p><p>Address of the bookmark: <a href="https://github.com/SCAU-AnimalGenetics/GPOPSIM" rel="nofollow">https://github.com/SCAU-AnimalGenetics/GPOPSIM</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36833/bfc-a-standalone-high-performance-tool-for-correcting-sequencing-errors-from-illumina-sequencing-data</guid>
	<pubDate>Thu, 31 May 2018 09:35:23 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36833/bfc-a-standalone-high-performance-tool-for-correcting-sequencing-errors-from-illumina-sequencing-data</link>
	<title><![CDATA[BFC: a standalone high-performance tool for correcting sequencing errors from Illumina sequencing data]]></title>
	<description><![CDATA[BFC is a standalone high-performance tool for correcting sequencing errors from Illumina sequencing data. It is specifically designed for high-coverage whole-genome human data, though also performs well for small genomes.

The BFC algorithm is a variant of the classical spectrum alignment algorithm introduced by Pevzner et al (2001). It uses an exhaustive search to find a k-mer path through a read that minimizes a heuristic objective function jointly considering penalties on correction, quality and k-mer support. This algorithm was first implemented in my fermi assembler and then refined a few times in fermi, fermi2 and now in BFC. In the k-mer counting phase, BFC uses a blocked bloom filter to filter out most singleton k-mers and keeps the rest in a hash table (Melsted and Pritchard, 2011). The use of bloom filter is how BFC is named, though other correctors such as Lighter and Bless actually rely more on bloom filter than BFC.

https://github.com/lh3/bfc<p>Address of the bookmark: <a href="https://github.com/lh3/bfc" rel="nofollow">https://github.com/lh3/bfc</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37527/nanopack-visualizing-and-processing-long-read-sequencing-data</guid>
	<pubDate>Fri, 10 Aug 2018 18:41:34 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37527/nanopack-visualizing-and-processing-long-read-sequencing-data</link>
	<title><![CDATA[NanoPack: visualizing and processing long-read sequencing data]]></title>
	<description><![CDATA[<p>The NanoPack tools are written in Python3 and released under the GNU GPL3.0 License. The source code can be found at&nbsp;<a href="https://github.com/wdecoster/nanopack" target="">https://github.com/wdecoster/nanopack</a>, together with links to separate scripts and their documentation. The scripts are compatible with Linux, Mac OS and the MS Windows 10 subsystem for Linux and are available as a graphical user interface, a web service at&nbsp;<a href="http://nanoplot.bioinf.be/" target="">http://nanoplot.bioinf.be</a>&nbsp;and command line tools.</p>
<p>&nbsp;https://academic.oup.com/bioinformatics/article/34/15/2666/4934939</p><p>Address of the bookmark: <a href="https://github.com/wdecoster/nanoQC" rel="nofollow">https://github.com/wdecoster/nanoQC</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

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