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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/35384?offset=560</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/39269/ragoo-fast-reference-guided-scaffolding-of-genome-assembly-contigs</guid>
	<pubDate>Wed, 17 Apr 2019 19:45:22 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/39269/ragoo-fast-reference-guided-scaffolding-of-genome-assembly-contigs</link>
	<title><![CDATA[RaGOO: Fast Reference-Guided Scaffolding of Genome Assembly Contigs]]></title>
	<description><![CDATA[<p>Alonge M, Soyk S, Ramakrishnan S, Wang X, Goodwin S, Sedlazeck FJ, Lippman ZB, Schatz MC:&nbsp;<a href="https://www.biorxiv.org/content/early/2019/01/13/519637">Fast and accurate reference-guided scaffolding of draft genomes</a>.&nbsp;<em>bioRxiv</em>&nbsp;2019.</p>
<p>RaGOO is a tool for coalescing genome assembly contigs into pseudochromosomes via minimap2 alignments to a closely related reference genome. The focus of this tool is on practicality and therefore has the following features:</p>
<ol>
<li>Good performance. On a MacBook Pro using Arabidopsis data, pseudochromosome construction takes less than a minute and the whole pipeline with SV calling takes ~2 minutes.</li>
<li>Intact ordering and orienting of contigs.</li>
<li><a href="https://github.com/malonge/RaGOO/wiki/Breaking-Chimeric-Contigs">Chimeric contig correction</a></li>
<li><a href="https://github.com/malonge/RaGOO/wiki/GFF-File-Lift-Over">GFF lift-over</a></li>
<li><a href="https://github.com/malonge/RaGOO/wiki/Calling-Structural-Variants">Structural variant calling with and integrated version of Assemblytics</a></li>
<li>Confidence scores associated with the grouping, localization, and orientation for each contig.</li>
</ol><p>Address of the bookmark: <a href="https://github.com/malonge/RaGOO" rel="nofollow">https://github.com/malonge/RaGOO</a></p>]]></description>
	<dc:creator>BioJoker</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40549/mgse-mapping-based-genome-size-estimation</guid>
	<pubDate>Fri, 17 Jan 2020 02:11:43 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40549/mgse-mapping-based-genome-size-estimation</link>
	<title><![CDATA[MGSE: Mapping-based Genome Size Estimation]]></title>
	<description><![CDATA[<p>MGSE can harness the power of files generated in genome sequencing projects to predict the genome size. Required are the FASTA file containing a high continuity assembly and a BAM file with all available reads mapped to this assembly. The script construct_cov_file.py (https://doi.org/10.1186/s12864-018-5360-z) allows the generation of a COV file based on the (sorted) BAM file (also possible via MGSE directly). Next, this COV file can be used by MGSE to calculate the coverage in provided reference regions and to calculate the total number of mapped bases. Both values are subjected to the genome size estimation. Providing accurate reference regions is crucial for this genome size estimation.</p><p>Address of the bookmark: <a href="https://github.com/bpucker/MGSE" rel="nofollow">https://github.com/bpucker/MGSE</a></p>]]></description>
	<dc:creator>Shruti Paniwala</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41691/genobuntu-package-for-next-generation-sequencing-and-genome-assembly</guid>
	<pubDate>Mon, 18 May 2020 16:47:56 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41691/genobuntu-package-for-next-generation-sequencing-and-genome-assembly</link>
	<title><![CDATA[Genobuntu: Package for Next Generation Sequencing and Genome Assembly]]></title>
	<description><![CDATA[<div>
<p>Genobuntu is a software package containing more than 70 software and packages oriented towards NGS. In its current version, Genobuntu supports pre assembly tools, genome assemblers as well as post assembly tools.<br><br>Commonly used biological software and example script files for different assembly pipelines have also been provided, where the example script files can be updated to suit one&rsquo;s experimental needs. Genobuntu attempts to reduce the amount of time and energy needed to build software workstations and it can also act as a good teaching source for a class room setting.<br><br>Therefore, Genobuntu offers a well-tailored environment for both novices and experts working in the field of genome assembly.</p>
</div>
<div>
<h3>Features</h3>
<ul>
<li>Velvet</li>
<li>MiB</li>
<li>SSAKE</li>
<li>EULER</li>
<li>VCAKE</li>
<li>ABySS</li>
<li>ALLPATHS</li>
<li>Celera</li>
<li>SHARCGS</li>
<li>Allpaths</li>
<li>IDBA</li>
<li>TAIPAN</li>
<li>Edena</li>
<li>SOAPdenovo</li>
<li>Maq</li>
<li>IDBA-UD</li>
<li>No. of Reads present in the Ref. Seq.</li>
<li>ART NGS Reads Simulator</li>
<li>HiTEC, FASTQC</li>
<li>Minimum Description Length</li>
<li>SOAPaligner</li>
<li>Sequencing Read Archive Toolkit</li>
</ul>
</div><p>Address of the bookmark: <a href="https://sourceforge.net/projects/genobuntu/" rel="nofollow">https://sourceforge.net/projects/genobuntu/</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/42633/protocol-for-de-novo-genome-assembly-using-illumina-reads</guid>
	<pubDate>Sat, 16 Jan 2021 21:42:11 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/42633/protocol-for-de-novo-genome-assembly-using-illumina-reads</link>
	<title><![CDATA[Protocol for De novo Genome Assembly using Illumina Reads]]></title>
	<description><![CDATA[<p>In this protocol, we address and describe the de novo assembly method for small to medium-sized genomes.</p><p><strong>What is de novo genome assembly?<br /></strong>The method of taking a large number of short DNA sequences and placing them back together to create a reflection of the original chromosomes from which the DNA originated relates to genome assembly. No previous knowledge of the source DNA sequence length, structure or composition is inferred by De novo genome assemblies. The DNA of the target organism is split up into millions of tiny parts and read on a sequencing computer in a genome sequencing experiment. Depending on the sequencing system used, these "reads" range from 20 to 1000 nucleotide base pairs (bp) in length. Usually, length reads of 36 - 150 bp are produced for Illumina style short read sequencing. These reads can be either &ldquo;single ended&rdquo; as described above or &ldquo;paired end.&rdquo;</p><p><strong>Why genome assembly?</strong><br />In basic research into why and how they live, as well as in applied topics, identifying the DNA sequence of an organism is useful. Awareness of a DNA sequence may be useful in virtually any biological research because of the relevance of DNA to living things. For example, it may be used in medicine to classify, diagnose and eventually improve genetic disorder therapies. Similarly, pathogens study can lead to treatments for infectious diseases.</p><p><strong>Raw NGS data</strong><br />Reads can be saved as a Fasta file as text or in a FastQ file with their attributes.&nbsp;FastQ is the most common read file format since this is what the Illumina sequencing pipeline creates. This will henceforth be the subject of our conversation.</p><p><strong>In a nutshell the protocol:</strong> <br />Get the sequence file(s) read from the sequencing machine (s). <br />Look at the readings - have an idea of what you have and what the standard is like. <br />If required, raw data cleanup/quality trimming. <br />Choose an adequate parameter set for assembly. <br />Assemble the data into scaffolds/contigs. <br />Examine the assembly performance and determine the efficiency of the assembly.</p><p><strong>Read Quality Control:</strong><br />Check the qualiy with fastQC.<br />Script<br />https://bioinformaticsonline.com/snippets/view/42540/install-fastqc-using-conda</p><p>Quality trimming/cleanup of read files.<br />This function trims adapters, barcodes and other contaminants from the reads.<br />Script<br />https://bioinformaticsonline.com/snippets/view/42542/trimmomatic-command</p><p><strong>Genome Assembly:</strong><br />The object of this portion of the protocol is to explain the method of assembling the reads trimmed by quality into draft contigs.</p><blockquote><p>spades.py -1 illumina_R1.fastq.gz -2 illumina_R2.fastq.gz --careful --cov-cutoff auto -o result_of_spades_assembly_all_illumina</p></blockquote><p>A significant range of short-read assemblers are available. Everyone with strengths and disadvantages of their own. <br /><em>Some of the assemblers available include:</em><br />Velvet<br />SOAP-denovo<br />MIRA<br />ALLPATHS</p><p>Next step is to assess the suitability and what to do with a draft package of contiguous details for the remainder of the study now.&nbsp;Few stuff you can note about the contigs you just created:&nbsp;They're the draft Contigs. Any mis-assemblies can occur.</p><p><strong>Mis-assembly checking and assembly metric tools:</strong><br />QUAST - Quality assessment tool for genome assembly http://bioinf.spbau.ru/quast<br />Mauve assembly metrics - http://code.google.com/p/ngopt/wiki/How_To_Score_Genome_Assemblies_with_Mauve<br />InGAP-SV - https://sites.google.com/site/nextgengenomics/ingap and http://ingap.sourceforge.net/<br />inGAP is also useful for finding structural variants between genomes from read mappings.</p><p><strong>Genome finishing tools:</strong><br />Semi-automated gap fillers:<br />Gap filler - http://www.baseclear.com/landingpages/basetools-a-wide-range-of-bioinformatics-solutions/gapfiller/</p><p>IMAGE (V2) - http://sourceforge.net/apps/mediawiki/image2/index.php?title=Main_Page</p><p><strong>Genome visualisers and editors:</strong><br />Artemis - http://www.sanger.ac.uk/resources/software/artemis/<br />IGV - http://www.broadinstitute.org/igv/</p><p><strong>Automated and semi automated annotation tools:</strong><br />Prokka - https://github.com/tseemann/prokka<br />RAST - http://www.nmpdr.org/FIG/wiki/view.cgi/FIG/RapidAnnotationServer<br />JCVI Annotation Service - http://www.jcvi.org/cms/research/projects/annotation-service/</p><p><strong>Frequent command use for the analysis are at:</strong></p><p>https://bioinformaticsonline.com/blog/view/38765/list-of-tools-frequently-used-while-genome-assembly<br />https://bioinformaticsonline.com/pages/view/42275/frequent-parameters-for-bioinformatics-tools</p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43315/genome-assembly-workshop-2020</guid>
	<pubDate>Wed, 25 Aug 2021 04:30:32 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43315/genome-assembly-workshop-2020</link>
	<title><![CDATA[Genome Assembly Workshop 2020]]></title>
	<description><![CDATA[<p><span>Our team offers custom bioinformatics services to academic and private organizations. We have a strong academic background with a focus on cutting edge, open source software. We replicate standard analysis pipelines (best practices) when appropriate, and/or develop novel applications and pipelines when needed, however we always emphasize biological interpretation of the data.</span></p>
<p><span>More at&nbsp;https://ucdavis-bioinformatics-training.github.io/</span></p><p>Address of the bookmark: <a href="https://ucdavis-bioinformatics-training.github.io/2020-Genome_Assembly_Workshop/snakemake/snakemake_intro" rel="nofollow">https://ucdavis-bioinformatics-training.github.io/2020-Genome_Assembly_Workshop/snakemake/snakemake_intro</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/43762/vicoso-group</guid>
  <pubDate>Wed, 02 Feb 2022 02:51:27 -0600</pubDate>
  <link></link>
  <title><![CDATA[Vicoso group]]></title>
  <description><![CDATA[
<p>The Vicoso group investigates how sex chromosomes evolve over time, and what biological forces are driving their patterns of differentiation.</p>

<p>The Vicoso group is interested in understanding several aspects of the biology of sex chromosomes, and the evolutionary processes that shape their peculiar features. By combining the use of next-generation sequencing technologies with studies in several model and non-model organisms, they can address a variety of standing questions, such as: Why do some Y chromosomes degenerate while others remain homomorphic, and how does this relate to the extent of sexual dimorphism of the species? What forces drive some species to acquire global dosage compensation of the X, while others only compensate specific genes? What are the frequency and molecular dynamics of sex-chromosome turnover?</p>

<p>More at https://ist.ac.at/en/research/vicoso-group/<br />http://pub.ist.ac.at/~bvicoso/</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43690/ucsc-sars-cov-2-genome-browser</guid>
	<pubDate>Thu, 06 Jan 2022 06:48:40 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43690/ucsc-sars-cov-2-genome-browser</link>
	<title><![CDATA[UCSC SARS-CoV-2 Genome Browser]]></title>
	<description><![CDATA[<p><span>The UCSC SARS-CoV-2 Genome Browser (</span><a href="https://genome.ucsc.edu/covid19.html">https://genome.ucsc.edu/covid19.html</a><span>) is an adaptation of our popular genome-browser visualization tool for this virus, containing many annotation tracks and new features, including conservation with similar viruses, immune epitopes, RT&ndash;PCR and sequencing primers and CRISPR guides. We invite all investigators to contribute to this resource to accelerate research and development activities globally.</span></p><p>Address of the bookmark: <a href="https://www.nature.com/articles/s41588-020-0700-8" rel="nofollow">https://www.nature.com/articles/s41588-020-0700-8</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43909/human-complete-genome</guid>
	<pubDate>Wed, 06 Jul 2022 06:42:55 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43909/human-complete-genome</link>
	<title><![CDATA[Human Complete Genome]]></title>
	<description><![CDATA[<h1 dir="auto">Telomere-to-telomere consortium</h1>
<p dir="auto">We have sequenced the CHM13hTERT human cell line with a number of technologies. Human genomic DNA was extracted from the cultured cell line. As the DNA is native, modified bases will be preserved. The data includes 30x&nbsp;<a href="https://www.pacb.com/">PacBio</a>&nbsp;<a href="https://www.ncbi.nlm.nih.gov/sra/?term=SRX789768*+CHM13">HiFi</a>, 120x coverage of&nbsp;<a href="https://nanoporetech.com/">Oxford Nanopore</a>, 70x&nbsp;<a href="https://www.pacb.com/">PacBio</a>&nbsp;CLR, 50x&nbsp;<a href="https://www.10xgenomics.com/">10X Genomics</a>, as well as&nbsp;<a href="https://bionanogenomics.com/technology/dls-technology/">BioNano DLS</a>&nbsp;and&nbsp;<a href="https://arimagenomics.com/kit/">Arima Genomics HiC</a>. Most raw data is available from this site, with the exception of the PacBio data which was generated by the University of Washington/PacBio and is available from&nbsp;<a href="https://www.ncbi.nlm.nih.gov/sra?linkname=bioproject_sra_all&amp;from_uid=269593">NCBI SRA</a>.</p>
<p dir="auto">A UCSC browser is available for&nbsp;<a href="https://genome.ucsc.edu/h/GCA_009914755.4">v2.0</a>&nbsp;(as well as legacy&nbsp;<a href="http://genome.ucsc.edu/cgi-bin/hgTracks?genome=t2t-chm13-v1.0&amp;hubUrl=http://t2t.gi.ucsc.edu/chm13/hub/hub.txt">v1.0</a>&nbsp;and&nbsp;<a href="http://genome.ucsc.edu/cgi-bin/hgTracks?genome=t2t-chm13-v1.1&amp;hubUrl=http://t2t.gi.ucsc.edu/chm13/hub/hub.txt">v1.1</a>&nbsp;versions). An interactive dotplot visualization of all genomic repeats is also available from&nbsp;<a href="https://resgen.io/paper-data/T2T-Nurk-et-al-2021/views/t2t-identity-v2">resgen.io</a>. Known issues identified in the assembly are tracked at&nbsp;<a href="https://github.com/marbl/CHM13-issues">CHM13 issues</a>.</p>
<p dir="auto">&nbsp;</p>
<p dir="auto">MORE at&nbsp;https://github.com/marbl/CHM13</p><p>Address of the bookmark: <a href="https://www.science.org/doi/10.1126/science.abj6987" rel="nofollow">https://www.science.org/doi/10.1126/science.abj6987</a></p>]]></description>
	<dc:creator>Shruti Paniwala</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/44342/ncbi-datasets%E2%80%AFpages</guid>
	<pubDate>Wed, 12 Jul 2023 06:29:31 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/44342/ncbi-datasets%E2%80%AFpages</link>
	<title><![CDATA[NCBI Datasets pages]]></title>
	<description><![CDATA[<p>Update! Assembly and Genome record pages now redirect to new NCBI Datasets pages. NCBI Datasets is a new resource that makes it easier to find and download genome data. Learn more: https://ncbiinsights.ncbi.nlm.nih.gov/2023/07/11/ncbi-datasets-genome-assembly-pages/&nbsp;<a href="https://ow.ly/GU3o50P8QH4"></a><a href="https://www.linkedin.com/feed/hashtag/?keywords=ncbicgr&amp;highlightedUpdateUrns=urn%3Ali%3Aactivity%3A7084592728260386816">#NCBICGR</a></p><p><span>Effective July 10, 2023, NCBI&rsquo;s Assembly and Genome record pages now redirect to&nbsp;</span>new<a href="https://www.ncbi.nlm.nih.gov/datasets/?utm_source=ncbi_insights&amp;utm_medium=referral&amp;utm_campaign=datasets-genome-assembly-redirect-20230711"> NCBI Datasets </a><span>pages. As&nbsp;</span><a href="https://ncbiinsights.ncbi.nlm.nih.gov/2023/03/07/ncbi-datasets-genome-taxonomy-pages/?utm_source=ncbi_insights&amp;utm_medium=referral&amp;utm_campaign=datasets-genome-assembly-redirect-20230711">previously announced</a><span>, these updates are part of our ongoing effort to modernize and improve your user experience. NCBI Datasets is a new resource that makes it easier to find and download genome data.  </span><span>&nbsp;</span></p><h5>The following pages have been updated:</h5><ul>
<li><span>The NCBI Assembly record pages now redirect to the new </span><a href="https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_023065955.2/?utm_source=ncbi_insights&amp;utm_medium=referral&amp;utm_campaign=datasets-genome-assembly-redirect-20230711"><span>NCBI Datasets</span><strong><span> </span></strong><span>Genome</span></a><span> </span><span>record pages that describe assembled genomes and provide links to related NCBI tools such as Genome Data Viewer and BLAST. </span><span>&nbsp;</span></li>
<li><span>The NCBI</span><strong> </strong><span>Genome record pages now redirect to the </span><a href="https://www.ncbi.nlm.nih.gov/datasets/taxonomy/9644/?utm_source=ncbi_insights&amp;utm_medium=referral&amp;utm_campaign=datasets-genome-assembly-redirect-20230711"><span>NCBI Datasets</span><strong><span> </span></strong><span>Taxonomy</span></a><span> </span><span>record pages that provide a taxonomy-focused portal to genes, genomes, and additional NCBI resources.  </span><span>&nbsp;</span></li>
</ul><p><span>During this transition, you will have the option to return to the legacy Genome and Assembly record pages. We will remove the legacy pages in early 2024. </span><span>&nbsp;</span></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44503/entire-human-genome-sequencing</guid>
	<pubDate>Tue, 02 Apr 2024 01:19:29 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44503/entire-human-genome-sequencing</link>
	<title><![CDATA[Entire Human Genome Sequencing !]]></title>
	<description><![CDATA[<p>Cost-effective whole human genome sequencing has revolutionized the landscape of genetic research and personalized medicine by making comprehensive genetic analysis accessible to a wider population. Through advancements in sequencing technologies, such as next-generation sequencing (NGS), costs have significantly decreased, enabling researchers and healthcare providers to analyze an individual's complete genetic makeup with greater efficiency and affordability. This has profound implications for disease diagnosis, prognosis, and treatment, as it allows for the identification of genetic predispositions and the customization of healthcare interventions based on an individual's unique genetic profile. Moreover, as the cost continues to decline, the potential for population-scale genomic studies and large-scale screening programs becomes increasingly feasible, promising to further enhance our understanding of human genetics and improve healthcare outcomes on a global scale.</p><p>Here are few companies:</p><p>https://mynucleus.com/</p><p>https://myome.com/</p><p>https://nebula.org/whole-genome-sequencing-dna-test/</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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