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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/41592?offset=390</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41125/chromonomer-a-tool-set-for-repairing-and-enhancing-assembled-genomes-through-integration-of-genetic-maps-and-conserved-synteny</guid>
	<pubDate>Mon, 17 Feb 2020 05:38:46 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41125/chromonomer-a-tool-set-for-repairing-and-enhancing-assembled-genomes-through-integration-of-genetic-maps-and-conserved-synteny</link>
	<title><![CDATA[Chromonomer: a tool set for repairing and enhancing assembled genomes through integration of genetic maps and conserved synteny]]></title>
	<description><![CDATA[<p>Chromonomer is a program designed to integrate a genome assembly with a genetic map. Chromonomer tries very hard to identify and remove markers that are out of order in the genetic map, when considered against their local assembly order; and to identify scaffolds that have been incorrectly assembled according to the genetic map, and split those scaffolds.</p><p>Address of the bookmark: <a href="http://catchenlab.life.illinois.edu/chromonomer/" rel="nofollow">http://catchenlab.life.illinois.edu/chromonomer/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/42325/published-a-dataset-of-363-genomes-from-approximately-92-percent-of-bird-families</guid>
	<pubDate>Thu, 19 Nov 2020 07:04:41 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/42325/published-a-dataset-of-363-genomes-from-approximately-92-percent-of-bird-families</link>
	<title><![CDATA[Published a dataset of 363 genomes from approximately 92 percent of bird families]]></title>
	<description><![CDATA[<div>A research team published a dataset of 363 genomes from approximately 92 percent of bird families and showed the significance of sampling dense organisms for biodiversity research. The study was jointly conducted by Chinese and international institutions and museums and was led by researchers from the Kunming Institute of Zoology (KIZ) of the Chinese Academy of Sciences (CAS). Total of 267 were newly published among the 363 sequenced genomes.&nbsp;They were mainly taken from samples of avian tissue kept in museums around the world, enabling researchers to sequence rare and endangered birds' genomes.</div><div>&nbsp;</div><div>Its descendants have adapted to a wide variety of ecological niches since the first bird formed more than 150 million years ago, giving rise to small, hovering hummingbirds, plunge-diving pelicans and showy paradise birds. More than 10,000 bird species live on the planet today - and now scientists are well on their way to capturing a full genetic image of that diversity.</div><div>&nbsp;</div><div>B10K is expanding its efforts to encompass the next stage of avian classification with 363 genomes complete. The team will sequence thousands of extra genomes in this process, attempting to represent each of the approximately 2,300 bird genera.</div><div>&nbsp;</div><div><img src="https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41586-020-2873-9/MediaObjects/41586_2020_2873_Fig1_HTML.png?as=webp" alt="image" style="border: 0px;"></div><div>&nbsp;</div><div>The genomic resource is expected to provide new insights on evolutionary processes in cross-species comparative studies and assist in efforts to protect species, according to the research findings reported as a cover story in the journal Nature.</div><div>&nbsp;</div><div>Ref at&nbsp;Dense sampling of bird diversity increases power of comparative genomics&nbsp;https://www.nature.com/articles/s41586-020-2873-9</div>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44525/synorth-exploring-the-evolution-of-synteny-and-long-range-regulatory-interactions-in-vertebrate-genomes</guid>
	<pubDate>Mon, 06 May 2024 06:21:10 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44525/synorth-exploring-the-evolution-of-synteny-and-long-range-regulatory-interactions-in-vertebrate-genomes</link>
	<title><![CDATA[Synorth: exploring the evolution of synteny and long-range regulatory interactions in vertebrate genomes]]></title>
	<description><![CDATA[<p><span>Genomic regulatory blocks are chromosomal regions spanned by long clusters of highly conserved noncoding elements devoted to long-range regulation of developmental genes, often immobilizing other, unrelated genes into long-lasting syntenic arrangements. Synorth&nbsp;</span><a href="http://synorth.genereg.net/" target="_blank">http://synorth.genereg.net/</a><span>&nbsp;is a web resource for exploring and categorizing the syntenic relationships in genomic regulatory blocks across multiple genomes, tracing their evolutionary fate after teleost whole genome duplication at the level of genomic regulatory block loci, individual genes, and their phylogenetic context.</span></p>
<p><span>More at&nbsp;https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745767/</span></p><p>Address of the bookmark: <a href="http://synorth.genereg.net/" rel="nofollow">http://synorth.genereg.net/</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44751/large-language-models-in-bioinformatics-transforming-data-analysis-and-interpretation</guid>
	<pubDate>Thu, 02 Jan 2025 11:26:29 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44751/large-language-models-in-bioinformatics-transforming-data-analysis-and-interpretation</link>
	<title><![CDATA[Large Language Models in Bioinformatics: Transforming Data Analysis and Interpretation]]></title>
	<description><![CDATA[<p>The integration of artificial intelligence (AI) into bioinformatics has ushered in a new era of computational biology. Among the most transformative advancements are large language models (LLMs), such as GPT and BERT, which leverage deep learning to process and interpret vast amounts of text data. These models are reshaping bioinformatics by enhancing data analysis, hypothesis generation, and literature mining.</p><h3>Understanding Large Language Models</h3><p>LLMs are AI systems trained on extensive datasets of natural language. Their ability to model context, identify patterns, and generate coherent language has proven invaluable across domains, including bioinformatics. By fine-tuning these models on biological datasets, researchers can unlock insights into molecular biology, systems biology, and beyond.</p><h3>Key Applications of LLMs in Bioinformatics</h3><h4>1. <strong>Annotating Biological Data</strong></h4><p>Annotating genomic and proteomic data is fundamental yet labor-intensive. LLMs streamline this process by extracting functional annotations from literature and databases, predicting gene and protein functions, and providing automated insights.</p><h4>2. <strong>Mining Scientific Literature</strong></h4><p>The exponential growth of publications presents a challenge for researchers to stay updated. LLMs can process large volumes of text to extract key findings, summarize papers, and identify trends, thereby facilitating efficient literature reviews.</p><h4>3. <strong>Predicting Gene and Protein Functions</strong></h4><p>By leveraging sequence data and annotations, LLMs can predict the functions of uncharacterized genes and proteins. This capability is particularly useful for studying non-model organisms and orphan genes.</p><h4>4. <strong>Drug Discovery and Repurposing</strong></h4><p>LLMs enable pattern recognition across chemical, genomic, and clinical datasets, identifying novel drug candidates and repurposing existing drugs for new therapeutic targets. They can simulate interactions between drugs and biological molecules, accelerating the discovery pipeline.</p><h4>5. <strong>Generating Hypotheses for Research</strong></h4><p>LLMs analyze complex datasets to propose testable hypotheses. For example, they can predict protein-protein interactions, identify regulatory motifs, or model evolutionary processes in genomes.</p><h3>Advantages of LLMs in Bioinformatics</h3><ul>
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<p><strong>Scalability:</strong> LLMs process massive datasets rapidly, reducing the time required for data analysis.</p>
</li>
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<p><strong>Versatility:</strong> These models adapt to diverse bioinformatics tasks, from genomic annotation to network analysis.</p>
</li>
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<p><strong>Contextual Insights:</strong> By synthesizing information across disparate datasets, LLMs provide integrative insights into biological systems.</p>
</li>
</ul><h3>Challenges in Applying LLMs</h3><p>Despite their promise, LLMs face limitations:</p><ul>
<li>
<p><strong>Data Quality and Bias:</strong> Inaccurate or biased datasets can affect model predictions, necessitating rigorous data curation.</p>
</li>
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<p><strong>Interpretability:</strong> Understanding the decision-making process of LLMs remains a critical challenge, especially in high-stakes fields like genomics and medicine.</p>
</li>
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<p><strong>Resource Intensity:</strong> Training and deploying LLMs require substantial computational power, which can limit accessibility.</p>
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<p><strong>Ethical Concerns:</strong> Handling sensitive genomic data raises privacy and security issues, emphasizing the need for ethical guidelines.</p>
</li>
</ul><h3>Future Prospects</h3><p>The continued development of LLMs tailored for bioinformatics promises exciting advancements. Specialized models trained on omics data, open-access platforms, and interdisciplinary collaborations will expand the utility of LLMs. Moreover, integrating LLMs with other AI technologies, such as graph neural networks and reinforcement learning, can unlock deeper biological insights.</p><h3>Conclusion</h3><p>Large language models are revolutionizing bioinformatics by addressing longstanding challenges in data annotation, literature mining, and function prediction. Their ability to analyze complex biological datasets efficiently positions them as indispensable tools for modern research. As bioinformatics embraces AI, the synergy between LLMs and biological sciences holds the potential to unravel the complexities of life with unprecedented precision and scale.</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37498/nextsv-a-meta-caller-for-structural-variants-from-low-coverage-long-read-sequencing-data</guid>
	<pubDate>Mon, 06 Aug 2018 17:24:53 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37498/nextsv-a-meta-caller-for-structural-variants-from-low-coverage-long-read-sequencing-data</link>
	<title><![CDATA[NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data]]></title>
	<description><![CDATA[<p>NextSV, a meta SV caller and a computational pipeline to perform SV calling from low coverage long-read sequencing data. NextSV integrates three aligners and three SV callers and generates two integrated call sets (sensitive/stringent) for different analysis purpose. The output of NextSV is in ANNOVAR-compatible bed format. Users can easily perform downstream annotation using ANNOVAR and disease gene discovery using Phenolyzer.</p>
<p>&nbsp;</p>
<h2>&nbsp;</h2><p>Address of the bookmark: <a href="https://github.com/Nextomics/NextSV" rel="nofollow">https://github.com/Nextomics/NextSV</a></p>]]></description>
	<dc:creator>Jit</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>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36621/hapcut2-robust-and-accurate-haplotype-assembly-for-diverse-sequencing-technologies</guid>
	<pubDate>Tue, 15 May 2018 07:35:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36621/hapcut2-robust-and-accurate-haplotype-assembly-for-diverse-sequencing-technologies</link>
	<title><![CDATA[HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies]]></title>
	<description><![CDATA[HapCUT2 is a maximum-likelihood-based tool for assembling haplotypes from DNA sequence reads, designed to "just work" with excellent speed and accuracy. We found that previously described haplotype assembly methods are specialized for specific read technologies or protocols, with slow or inaccurate performance on others. With this in mind, HapCUT2 is designed for speed and accuracy across diverse sequencing technologies, including but not limited to:

NGS short reads (Illumina HiSeq)
clone-based sequencing (Fosmid or BAC clones)
SMRT reads (PacBio)
Oxford Nanopore reads
10X Genomics Linked-Reads
proximity-ligation (Hi-C) reads
high-coverage sequencing (&gt;40x coverage-per-SNP) using above technologies
combinations of the above technologies (e.g. scaffold long reads with Hi-C reads)
See below for specific examples of command line options and best practices for some of these technologies.

NOTE: At this time HapCUT2 is for diploid organisms only. VCF input should contain diploid variants.

If you use HapCUT2 in your research, please cite:

Edge, P., Bafna, V. &amp; Bansal, V. HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies. Genome Res. gr.213462.116 (2016). doi:10.1101/gr.213462.116<p>Address of the bookmark: <a href="https://github.com/vibansal/HapCUT2" rel="nofollow">https://github.com/vibansal/HapCUT2</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36985/swalo-scaffolding-with-assembly-likelihood-optimization</guid>
	<pubDate>Wed, 20 Jun 2018 02:45:16 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36985/swalo-scaffolding-with-assembly-likelihood-optimization</link>
	<title><![CDATA[SWALO: Scaffolding with assembly likelihood optimization]]></title>
	<description><![CDATA[SWALO (scaffolding with assembly likelihood optimization) is a method for scaffolding based on likelihood of genome assemblies computed using generative models for sequencing.

Please email your questions, comments, suggestions, and bug reports to atif.bd@gmail.com.<p>Address of the bookmark: <a href="https://atifrahman.github.io/SWALO/" rel="nofollow">https://atifrahman.github.io/SWALO/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40099/contiguator</guid>
	<pubDate>Fri, 04 Oct 2019 01:27:58 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40099/contiguator</link>
	<title><![CDATA[CONTIGuator !]]></title>
	<description><![CDATA[<p><span>CONTIGuator is a Python script for Linux environments whose purpose is to speed-up the bacterial genome assembly process and to obtain a first insight of the genome structure using the well-known artemis comparison tool (ACT).</span></p>
<p>&nbsp;</p><p>Address of the bookmark: <a href="https://sourceforge.net/projects/contiguator/" rel="nofollow">https://sourceforge.net/projects/contiguator/</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41734/supernova-generates-phased-whole-genome-de-novo-assemblies-from-a-chromium-prepared-library</guid>
	<pubDate>Sun, 31 May 2020 01:59:30 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41734/supernova-generates-phased-whole-genome-de-novo-assemblies-from-a-chromium-prepared-library</link>
	<title><![CDATA[Supernova: generates phased, whole-genome de novo assemblies from a Chromium-prepared library.]]></title>
	<description><![CDATA[<p>Supernova generates phased, whole-genome&nbsp;<em>de novo</em>&nbsp;assemblies from a Chromium-prepared library.</p>
<p>Please see&nbsp;<a href="https://support.10xgenomics.com/de-novo-assembly/guidance/doc/achieving-success-with-de-novo-assembly">Achieving Success with De Novo Assembly</a>&nbsp;and&nbsp;<a href="https://support.10xgenomics.com/de-novo-assembly/software/overview/system-requirements">System Requirements</a>&nbsp;<em>before</em>&nbsp;creating your Chromium libraries for assembly.</p>
<p>Supernova should be run using 38-56x coverage of the genome.<br>&bull; Somewhat higher coverage is&nbsp;<em>sometimes</em>&nbsp;advantageous.<br>&bull; Supernova will exit if it finds that coverage is far from the recommended range.<br>&bull; Note that at most 2.14 billion reads are allowed.<br>&bull; Please note that we have not extensively tested genomes larger than human, and any genome above approximately 4 GB should be considered experimental and is not supported.</p><p>Address of the bookmark: <a href="https://support.10xgenomics.com/de-novo-assembly/software/pipelines/latest/using/running" rel="nofollow">https://support.10xgenomics.com/de-novo-assembly/software/pipelines/latest/using/running</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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