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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/43088?offset=150</link>
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	<description><![CDATA[]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44628/uncovar-workflow-for-transparent-and-robust-virus-variant-calling-genome-reconstruction-and-lineage-assignment</guid>
	<pubDate>Mon, 05 Aug 2024 23:01:29 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44628/uncovar-workflow-for-transparent-and-robust-virus-variant-calling-genome-reconstruction-and-lineage-assignment</link>
	<title><![CDATA[UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment]]></title>
	<description><![CDATA[<p>UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment</p>
<ul>
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<p>Using state of the art tools, easily extended for other viruses</p>
</li>
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<p>Tool and database updates for critical components via Conda</p>
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<p>Built using modern design patterns with Conda and Snakemake</p>
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<p>Extensible and easy to customize</p>
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<p>Submission Ready Genomes</p>
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<p>Customizable reporting with comprehensive visualization</p>
</li>
</ul>
<p>https://ikim-essen.github.io/uncovar/</p>
<p>Github&nbsp;https://github.com/IKIM-Essen/uncovar</p>
<p>&nbsp;</p>
<p>&nbsp;</p><p>Address of the bookmark: <a href="https://ikim-essen.github.io/uncovar/" rel="nofollow">https://ikim-essen.github.io/uncovar/</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45251/aurora-a-new-detective-for-bacterial-genomes</guid>
	<pubDate>Fri, 21 Aug 2026 11:31:00 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45251/aurora-a-new-detective-for-bacterial-genomes</link>
	<title><![CDATA[Aurora: A New Detective for Bacterial Genomes]]></title>
	<description><![CDATA[<p>Imagine trying to solve a mystery with thousands of clues&mdash;but some of the clues are labelled incorrectly.</p><p>That is the challenge researchers face when studying how bacteria adapt to different environments. A bacterial gene may appear to be linked to a particular habitat, when the real reason is simply that closely related bacteria happen to live there.</p><p>In their 2025 Genome Biology paper, Bujdo&scaron;, Walter, and O&rsquo;Toole introduce aurora, a machine-learning tool designed to tackle this problem.</p><p>Aurora identifies potentially mislabeled or unusual bacterial strains before performing genome-wide association studies (GWAS). By cleaning up the dataset and accounting for bacterial evolutionary relationships, it can help researchers find genetic features that are more genuinely connected to habitat adaptation.</p><p>The researchers tested aurora using simulated and real bacterial datasets and found that it could recover important genetic associations even when datasets contained misleading labels.</p><p>The bigger lesson is simple: better biological discoveries often begin with better data.</p><p>Aurora gives researchers a new way to separate real genetic clues from misleading ones&mdash;and could help us better understand how bacteria adapt, survive, and evolve in the environments they call home.</p><p>Based on Bujdo&scaron; et al., &ldquo;aurora: a machine learning GWAS tool for analyzing microbial habitat adaptation,&rdquo; Genome Biology (2025).[Read the original paper](https://link.springer.com/article/10.1186/s13059-025-03524-7?)</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/45296/luo-lab-symbiosis-genomics-evolution</guid>
  <pubDate>Wed, 09 Sep 2026 03:30:30 -0500</pubDate>
  <link></link>
  <title><![CDATA[Luo Lab | Symbiosis Genomics &amp; Evolution]]></title>
  <description><![CDATA[
<p>We study the evolutionary genomics of marine invertebrates to understand their origins and diversity. Our lab combines high-throughput sequencing and single-cell transcriptomics to explore a wide range of non-model systems. We are particularly interested in how evolutionary novelty arises, with a focus on animal development and photosymbiosis.</p>

<p>Research Directions</p>

<p>Stony corals: evolution of novelty and photosymbiosis</p>

<p>Symbiotic acoels: cell type evolution and photosymbiosis</p>

<p>Animal genomes: structural evolution and gene regulation</p>

<p>https://sgel.biodiv.tw/home</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45358/the-variant-everyone-ignored</guid>
	<pubDate>Mon, 05 Oct 2026 12:14:20 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45358/the-variant-everyone-ignored</link>
	<title><![CDATA[The Variant Everyone Ignored]]></title>
	<description><![CDATA[<p>Consider a scenario in which a patient's genome has been sequenced. Among billions of DNA bases, a structural alteration may explain the patient's disease. Multiple advanced algorithms analyze the data, yet only one detects the variant, while the others do not. In standard bioinformatics workflows, such a solitary result is often regarded as unreliable and subsequently discarded. Although the solution exists within the data, prevailing computational protocols may overlook it.</p><p>A recent study published in Genome Biology (https://link.springer.com/article/10.1186/s13059-026-04280-y) addressed this challenge by introducing dicast (https://github.com/burgshrimps/dicast), a machine-learning approach for detecting structural variants in short-read sequencing data. Structural variants, such as large deletions, insertions, duplications, and inversions, can have significant biological and clinical implications, yet they are challenging to identify with short-read technologies. Because different detection methods frequently yield divergent results, researchers commonly employ consensus calling, considering a variant valid only if multiple tools detect it. While this approach reduces false positives, it relies on the potentially flawed assumption that the majority is always correct.</p><p>The researchers explored the impact of evaluating the supporting evidence for each variant, rather than simply tallying the number of algorithms that identified it. To establish a ground truth, they analyzed nine genomes using multiple sequencing technologies and 15 detection methods, initially identifying approximately 35 million potential variants. Through extensive filtering, evidence integration, and manual review of over 11,500 variants, they developed a robust benchmark comprising more than 236,000 structural variants. The findings underscored the complexity of the problem: short-read methods detected fewer than half of deletions and less than 10 percent of insertions, with performance declining markedly in repetitive genomic regions. In contrast, long-read technologies demonstrated superior detection capabilities. However, replacing the substantial volume of existing short-read data in clinical and research settings is not immediately feasible. Consequently, the researchers questioned whether short-read data might harbor more information than conventional analytical pipelines currently extract.</p><p>This line of inquiry led to the development of dicast. Rather than merely confirming agreement among multiple tools, dicast identifies patterns in sequencing data, including split and clipped reads, discordant read pairs, alignment characteristics, and the surrounding genomic context. An XGBoost machine-learning model evaluates which combinations of these signals are indicative of genuine structural variants. Thus, the approach shifts from tallying algorithmic consensus to interpreting the underlying evidence.</p><p>The researchers subsequently conducted a targeted evaluation by examining structural variants detected by only a single short-read tool, which are typically missed by consensus-based approaches. dicast successfully recovered approximately 81% of these single-caller deletions, insertions, and duplications. The signals for these variants were present in the data, but conventional filtering methods failed to integrate them effectively.</p><p>The utility of dicast was further demonstrated in cohorts with rare diseases, including congenital limb malformations, atrial fibrillation, and neuromuscular disorders. In one instance, dicast achieved a deletion recall rate of approximately 0.96, compared to 0.74 using consensus calling. The median number of variants requiring manual review was 29 per sample. Among 31 experimentally validated variants that standard filters would have missed, dicast identified 12, whereas consensus calling detected only one.</p><p>Overall, dicast identified approximately 20 percent more potential disease-causing deletions than consensus-based methods. While a 20 percent increase may appear modest, in clinical genomics such improvements can have significant practical implications. Missing a deletion may leave a case unresolved, whereas detecting a structural variant can provide critical diagnostic insights.</p><p>The study does not claim that machine learning has rendered short-read sequencing superior to long-read approaches. Instead, the results underscore the effectiveness of long-read sequencing for structural variant detection. However, dicast highlights a more nuanced perspective: substantial biological information may still be recoverable from the extensive short-read datasets already available.</p><p>The principal lesson extends beyond the detection of structural variants. For many years, bioinformatics pipelines have relied on threshold-based criteria, such as minimum coverage, quality scores, or support from multiple tools. While these rules are useful, biological phenomena do not always conform to rigid checklists; multiple weak signals, when considered collectively, can provide compelling evidence.</p><p>This perspective prompts consideration of the solitary variant: one algorithm identifies it, while several others do not. Traditional consensus techniques might have dismissed it, yet machine learning approaches evaluate the available evidence to determine whether the variant is plausible.</p><p>Occasionally, the most significant variant within a genome is the one that is almost universally overlooked.</p><p>Read more at&nbsp;https://link.springer.com/article/10.1186/s13059-026-04280-y</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/4873/vveks-lab</guid>
  <pubDate>Thu, 26 Sep 2013 11:11:39 -0500</pubDate>
  <link></link>
  <title><![CDATA[Vvek's Lab]]></title>
  <description><![CDATA[
<p>Broad Area of Research: RNA biology (microRNA, lncRNA), Stem cells, Functional genomics, Epigenomics and Cancer</p>

<p>RNAs, especially non-coding RNAs (such as microRNA, long ncRNAs) are recently identified to be very abundant in mammalian organisms and play some key roles in gene expression regulation, gene silencing, and also implicated in disease progression, stem cell pluripotency etc. Current research activities of our lab include analysis of expression pattern of ncRNAs by microarray and next-gen sequencing data and understanding the role of miRNAs or other regulatory RNAs in various diseases, especially cancer and validation by reporter assays (renilla/luciferase) and other experimental tools.</p>

<p>More @ http://vvekslab.in/index.html</p>
]]></description>
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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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  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/25993/hoffman-lab</guid>
  <pubDate>Tue, 12 Jan 2016 02:47:41 -0600</pubDate>
  <link></link>
  <title><![CDATA[Hoffman Lab]]></title>
  <description><![CDATA[
<p>They develop machine learning techniques to better understand chromatin biology. These models and algorithms transform high-dimensional functional genomics data into interpretable patterns and lead to new biological insight.</p>

<p>https://www.pmgenomics.ca/hoffmanlab/</p>
]]></description>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/40566/the-el-sherif-group-chair-of-developmental-biology-department-of-biology-phd-position</guid>
  <pubDate>Sun, 19 Jan 2020 10:06:37 -0600</pubDate>
  <link></link>
  <title><![CDATA[The El-Sherif Group, Chair of Developmental Biology, Department of Biology - PhD Position]]></title>
  <description><![CDATA[
<p>El-Sherif lab studies how genes are regulated to mediate patterning in Development. We use live and super-resolution imaging in addition to computational modeling to understand transcription dynamics at the single-cell level in three model systems: the fruit fly Drosophila melanogaster, the beetle Tribolium castaneum, and embryonic bodies derived from embryonic mouse stem cells.</p>

<p>In this project, you will use single-molecule techniques to label mRNA and DNA in (live and fixed) Drosophila embryos and fixed embryonic bodies. You will also use super-resolution microscopy to visualize protein condensates. Co-localization dynamics reflecting DNA-protein bindings and DNA looping events will be detected, analyzed, and used to test computational models of gene transcription.</p>

<p>Qualification:<br />MSc degree (or equivalent) in Biology, Biophysics, or Bioengineering</p>

<p>Experience in one or more of these areas: (1) molecular cloning, (2) imaging, (3) image analysis (using Matlab/Python/Java), (4) microfluidics, and (5) computational modeling.</p>

<p>How to Apply?<br />Send (1) your CV, (2) summary of research experience, and (3) email addresses of at least 2 references to ezzat.el-sherif@fau.de. Title your email ‘Transcription PhD Position’.</p>

<p>salary Grade.: E13<br />Total Time: 3 Jahre<br />Start: 01.01.2020.<br />End: 31.3.2020.</p>

<p>Address:<br />Dr. El-Sherif, Ezzat<br />Department Biologie<br />Professur für Zoologie (Entwicklungsbiologie) (Prof. Dr. Klingler)<br />Telefon 09131/85-28068, Fax 09131/85-28040, E-Mail: ezzat.el-sherif@fau.de</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41881/hdock-server</guid>
	<pubDate>Tue, 16 Jun 2020 01:54:41 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41881/hdock-server</link>
	<title><![CDATA[HDOCK SERVER]]></title>
	<description><![CDATA[<p>HDOCK SERVER</p>
<p>Protein-protein and protein-DNA/RNA docking based on a hybrid algorithm of template-based modeling and&nbsp;<em>ab initio</em>&nbsp;free docking.</p>
<p><span>The HDOCK server distinguishes itself from similar docking servers in its ability to support amino acid sequences as input and a hybrid docking strategy in which experimental information about the protein&ndash;protein binding site and small-angle X-ray scattering can be incorporated during the docking and post-docking processes.</span></p><p>Address of the bookmark: <a href="http://hdock.phys.hust.edu.cn/" rel="nofollow">http://hdock.phys.hust.edu.cn/</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44626/meta-transcriptomics-dynamic-world-of-rna-in-diverse-environments</guid>
	<pubDate>Wed, 31 Jul 2024 02:40:49 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44626/meta-transcriptomics-dynamic-world-of-rna-in-diverse-environments</link>
	<title><![CDATA[Meta-Transcriptomics: Dynamic World of RNA in Diverse Environments]]></title>
	<description><![CDATA[<p>Meta-transcriptomics combines high-throughput sequencing technologies with computational biology to profile the RNA content of a sample. This technique allows researchers to capture a snapshot of gene expression and metabolic activities across diverse microbial communities, such as those found in soil, water, and the human gut.</p><p><strong>Key Components</strong></p><ol>
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<p><strong>Sample Collection</strong>: Meta-transcriptomics begins with the collection of environmental samples. These samples are often complex, containing a wide range of microorganisms.</p>
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<p><strong>RNA Extraction</strong>: RNA is extracted from the sample, which includes mRNA, rRNA, tRNA, and other non-coding RNAs. This step is crucial as it determines the quality and representativeness of the data.</p>
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<p><strong>Sequencing</strong>: High-throughput RNA sequencing (RNA-seq) technologies are used to obtain sequences of the RNA transcripts. This step provides a vast amount of data on the RNA molecules present in the sample.</p>
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<p><strong>Data Analysis</strong>: Computational tools and bioinformatics methods are employed to process and analyze the sequencing data. This involves mapping RNA sequences to reference genomes or transcriptomes, identifying expressed genes, and quantifying their abundance.</p>
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<p><strong>Functional Annotation</strong>: The functional roles of identified transcripts are inferred based on known gene functions, allowing researchers to understand the metabolic and ecological functions of the microbial community.</p>
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</ol><p><strong>Applications</strong></p><ol>
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<p><strong>Environmental Monitoring</strong>: Meta-transcriptomics can be used to monitor the health and functional status of ecosystems. For example, it can help assess the impact of pollution on microbial communities by revealing changes in gene expression related to stress response and degradation processes.</p>
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<p><strong>Microbiome Research</strong>: In human health, meta-transcriptomics offers insights into the gut microbiome&rsquo;s functional state. It helps in understanding how microbial communities interact with their host, how they respond to dietary changes, and their role in health and disease.</p>
</li>
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<p><strong>Biotechnology</strong>: The technique can aid in the discovery of novel enzymes and bioactive compounds by profiling microbial communities in extreme environments or industrial processes.</p>
</li>
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<p><strong>Disease Pathogenesis</strong>: By analyzing RNA profiles from disease-associated environments, researchers can uncover pathogen-host interactions and identify potential targets for therapeutic interventions.</p>
</li>
</ol><p><strong>Challenges</strong></p><ol>
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<p><strong>Complexity of Data</strong>: The sheer volume and complexity of data generated by meta-transcriptomics can be overwhelming. Effective data management and advanced computational tools are required to extract meaningful insights.</p>
</li>
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<p><strong>Sampling Bias</strong>: Environmental samples can be heterogeneous, and RNA extraction methods may introduce biases, potentially affecting the accuracy of the results.</p>
</li>
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<p><strong>Reference Databases</strong>: Incomplete or biased reference databases can hinder the accurate functional annotation of transcripts, especially when studying novel or poorly characterized organisms.</p>
</li>
</ol><p><strong>Future Directions</strong></p><p>Meta-transcriptomics is a rapidly evolving field, with ongoing advancements in sequencing technologies and bioinformatics. Future research may focus on improving data integration, developing more comprehensive reference databases, and enhancing our understanding of microbial community dynamics in various environments. As these challenges are addressed, meta-transcriptomics will continue to provide valuable insights into the functional roles of microorganisms and their interactions within ecosystems.</p><p><strong>Conclusion</strong></p><p>Meta-transcriptomics represents a powerful tool for exploring the functional aspects of microbial communities in their natural environments. By capturing a snapshot of gene expression and metabolic activities, this approach offers a deeper understanding of ecological interactions, health implications, and biotechnological potentials. As technology and methodologies advance, meta-transcriptomics is poised to make significant contributions to our knowledge of the microbial world.</p>]]></description>
	<dc:creator>Abhi</dc:creator>
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