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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/26975?offset=70</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41599/haslr-a-hybrid-assembler-which-uses-both-second-and-third-generation-sequencing-reads</guid>
	<pubDate>Mon, 04 May 2020 02:04:03 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41599/haslr-a-hybrid-assembler-which-uses-both-second-and-third-generation-sequencing-reads</link>
	<title><![CDATA[HASLR: a hybrid assembler which uses both second and third generation sequencing reads]]></title>
	<description><![CDATA[<p><span>HASLR, a hybrid assembler which uses both second and third generation sequencing reads to efficiently generate accurate genome assemblies. Our experiments show that HASLR is not only the fastest assembler but also the one with the lowest number of misassemblies on all the samples compared to other tested assemblers. Furthermore, the generated assemblies in terms of contiguity and accuracy are on par with the other tools on most of the samples. Availability. HASLR is an open source tool available at https://github.com/vpc-ccg/haslr.</span></p><p>Address of the bookmark: <a href="https://github.com/vpc-ccg/haslr" rel="nofollow">https://github.com/vpc-ccg/haslr</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/11355/genomics-and-personalized-medicine-breakthroughs</guid>
	<pubDate>Sun, 01 Jun 2014 23:40:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/11355/genomics-and-personalized-medicine-breakthroughs</link>
	<title><![CDATA[Genomics and Personalized Medicine Breakthroughs]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/VAR-1vNc0TE" frameborder="0" allowfullscreen></iframe>http://bit.ly/e8QGzY Human genome mapping is now enabling a breakthrough in medical innovation -- personalized medicine. What does this mean for patients? We can now identify predispositions to disease, predict how we metabolize drugs, and figure out what kinds of treatments we may respond to, and even determine when a drug may give us an adverse reaction. All medical specialties benefit from human genome intelligence -- oncology saw the first impacts -- but advances are now being seen in cardiology, obstetrics and gynecology, pediatric diseases, gastroenterology, rheumatology, immunology and other areas. This video covers the areas that genetic medicine is impacting and where the future of genomic medicine is heading.]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36812/porechop-tool-for-finding-and-removing-adapters-from-oxford-nanopore-reads</guid>
	<pubDate>Tue, 29 May 2018 07:33:44 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36812/porechop-tool-for-finding-and-removing-adapters-from-oxford-nanopore-reads</link>
	<title><![CDATA[Porechop:  tool for finding and removing adapters from Oxford Nanopore reads]]></title>
	<description><![CDATA[<p>Porechop is a tool for finding and removing adapters from <a href="https://nanoporetech.com/">Oxford Nanopore</a> reads. Adapters on the ends of reads are trimmed off, and when a read has an adapter in its middle, it is treated as chimeric and chopped into separate reads. Porechop performs thorough alignments to effectively find adapters, even at low sequence identity.</p>
<p>Porechop also supports demultiplexing of Nanopore reads that were barcoded with the <a href="https://store.nanoporetech.com/native-barcoding-kit-1d.html">Native Barcoding Kit</a>, <a href="https://store.nanoporetech.com/pcr-barcoding-kit-96.html">PCR Barcoding Kit</a> or <a href="https://store.nanoporetech.com/rapid-barcoding-sequencing-kit.html">Rapid Barcoding Kit</a>.</p><p>Address of the bookmark: <a href="https://github.com/rrwick/Porechop" rel="nofollow">https://github.com/rrwick/Porechop</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/12288/genomic-medicine-bruce-korf-2014</guid>
	<pubDate>Tue, 24 Jun 2014 07:58:44 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/12288/genomic-medicine-bruce-korf-2014</link>
	<title><![CDATA[Genomic Medicine - Bruce Korf (2014)]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/FYldIrsXHKw" frameborder="0" allowfullscreen></iframe>May 21, 2014 - Current Topics in Genome Analysis 2014
A lecture series covering contemporary areas in genomics and bioinformatics. More: http://www.genome.gov/COURSE2014]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12787/integrative-genomics-viewer-igv-tutorial</guid>
	<pubDate>Sat, 12 Jul 2014 15:16:23 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12787/integrative-genomics-viewer-igv-tutorial</link>
	<title><![CDATA[Integrative Genomics Viewer (IGV) tutorial]]></title>
	<description><![CDATA[<p>The <a href="http://www.broadinstitute.org/igv/">Integrative Genomics Viewer (IGV)</a> from the Broad Center allows you to view several types of data files involved in any NGS analysis that employs a reference genome, including how reads from a dataset are mapped, gene annotations, and predicted genetic variants.</p>
<p>http://www.broadinstitute.org/igv/</p><p>Address of the bookmark: <a href="https://wikis.utexas.edu/display/bioiteam/Integrative+Genomics+Viewer+%28IGV%29+tutorial" rel="nofollow">https://wikis.utexas.edu/display/bioiteam/Integrative+Genomics+Viewer+%28IGV%29+tutorial</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12963/cosmos-our-workflow-management-system-for-ngs-data</guid>
	<pubDate>Wed, 23 Jul 2014 07:29:14 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12963/cosmos-our-workflow-management-system-for-ngs-data</link>
	<title><![CDATA[COSMOS, our workflow management system for NGS data]]></title>
	<description><![CDATA[<p><strong>COSMOS</strong>, our Python-based management system for implementing large-scale parallel workflows focusing on, but not restricted to, large-scale short-read "NGS" sequencing data is open-access published via <a href="http://bioinformatics.oxfordjournals.org/content/early/2014/06/29/bioinformatics.btu385.abstract">Advance Access</a> in <em>Bioinformatics</em> (<a href="http://scholar.harvard.edu/lancaster/publications/cosmos-python-library-massively-parallel-workflows">Gafni et al. 2014</a>).&nbsp; It is also available for download for non-commercial academic and research purposes at:</p>
<p><strong>&nbsp;<a href="http://cosmos.hms.harvard.edu/">http://cosmos.hms.harvard.edu/</a></strong>.</p><p>Address of the bookmark: <a href="https://cosmos.hms.harvard.edu/" rel="nofollow">https://cosmos.hms.harvard.edu/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37957/base-a-practical-de-novo-assembler-for-large-genomes-using-long-ngs-reads</guid>
	<pubDate>Fri, 19 Oct 2018 07:25:21 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37957/base-a-practical-de-novo-assembler-for-large-genomes-using-long-ngs-reads</link>
	<title><![CDATA[BASE: a practical de novo assembler for large genomes using long NGS reads]]></title>
	<description><![CDATA[<p><span>new&nbsp;</span><em>de novo</em><span>&nbsp;assembler called BASE. It enhances the classic seed-extension approach by indexing the reads efficiently to generate adaptive seeds that have high probability to appear uniquely in the genome. Such seeds form the basis for BASE to build extension trees and then to use reverse validation to remove the branches based on read coverage and paired-end information, resulting in high-quality consensus sequences of reads sharing the seeds. Such consensus sequences are then extended to contigs.</span></p><p>Address of the bookmark: <a href="https://github.com/dhlbh/BASE" rel="nofollow">https://github.com/dhlbh/BASE</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44758/the-ifs-and-buts-of-ngs-quality-control-and-trimming</guid>
	<pubDate>Thu, 02 Jan 2025 20:11:07 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44758/the-ifs-and-buts-of-ngs-quality-control-and-trimming</link>
	<title><![CDATA[The &quot;Ifs&quot; and &quot;Buts&quot; of NGS Quality Control and Trimming]]></title>
	<description><![CDATA[<p>Next-Generation Sequencing (NGS) has revolutionized biological research, providing vast amounts of data for a wide range of applications. However, the reliability of NGS analyses heavily depends on the quality of raw sequencing data. Quality control (QC) and trimming are critical preprocessing steps that can make or break your downstream analyses. In this blog, we explore the "ifs" (why you should perform QC and trimming) and the "buts" (challenges or considerations) of this vital step in NGS workflows.</p><h3><strong>The "Ifs" of NGS QC and Trimming</strong></h3><ol>
<li>
<p><strong>Ensures Data Integrity</strong><br />If you want to minimize errors in downstream analyses, QC and trimming remove low-quality reads and bases, ensuring high-confidence data. This step is essential for reliable variant calling, assembly, and other applications.</p>
</li>
<li>
<p><strong>Removes Contaminants</strong><br />If adapter sequences or contaminants are present in the raw reads, trimming can eliminate them. This prevents issues like misalignment or incorrect biological interpretations, ensuring cleaner data for analysis.</p>
</li>
<li>
<p><strong>Improves Mapping and Assembly</strong><br />If your goal is better alignment to a reference genome or improved de novo assembly, trimming low-quality bases and adapters is critical. High-quality reads map more efficiently and generate more accurate assemblies.</p>
</li>
<li>
<p><strong>Reduces Computational Load</strong><br />If you want to save computational resources, trimming reduces the dataset size, which speeds up processing and analysis. Clean datasets mean less computational time spent on processing low-quality data.</p>
</li>
<li>
<p><strong>Prepares for Standardized Analyses</strong><br />If your project involves multiple datasets, QC and trimming ensure uniformity across them. This standardization makes comparisons valid and reproducible, particularly in large collaborative studies.</p>
</li>
</ol><h3><strong>The "Buts" of NGS QC and Trimming</strong></h3><ol>
<li>
<p><strong>Risk of Over-Trimming</strong><br />But excessive trimming can lead to the loss of informative sequences, reducing read depth and potentially discarding biologically relevant data. This is especially critical in studies with limited sequencing depth.</p>
</li>
<li>
<p><strong>Bias Introduction</strong><br />But trimming algorithms might introduce biases, especially if they inadvertently remove sequences with specific biological patterns. This can skew results and compromise biological insights.</p>
</li>
<li>
<p><strong>Loss of Context in Paired-End Reads</strong><br />But trimming one read in a pair more than the other can lead to loss of pairing information. This complicates downstream analyses that rely on paired-end data, such as structural variant detection.</p>
</li>
<li>
<p><strong>Time and Resource Intensive</strong><br />But running QC and trimming for large datasets can be computationally expensive and time-consuming. As sequencing depth increases, preprocessing becomes a bottleneck in the analysis pipeline.</p>
</li>
<li>
<p><strong>Variable Standards</strong><br />But the criteria for trimming (e.g., quality threshold, minimum read length) can vary between tools and datasets. This variability may affect reproducibility and comparability of results across studies.</p>
</li>
</ol><h3><strong>Balancing the "Ifs" and "Buts"</strong></h3><p>To maximize the benefits of QC and trimming while mitigating the challenges, consider the following best practices:</p><ul>
<li>
<p><strong>Use QC Tools Wisely:</strong> Start with tools like <strong>FastQC</strong> to identify quality issues in your raw data. Visualizing quality metrics helps tailor your trimming parameters.</p>
</li>
<li>
<p><strong>Choose Reliable Trimming Tools:</strong> Tools like <strong>Trimmomatic</strong>, <strong>Cutadapt</strong>, and <strong>BBduk</strong> offer adaptive and customizable trimming options. Select one that aligns with your dataset and project goals.</p>
</li>
<li>
<p><strong>Set Reasonable Parameters:</strong> Avoid over-trimming by setting quality thresholds and minimum read lengths that balance data retention and quality improvement.</p>
</li>
<li>
<p><strong>Test Downstream Effects:</strong> Validate the impact of QC and trimming on downstream analyses, such as alignment efficiency, variant calling accuracy, or assembly quality.</p>
</li>
<li>
<p><strong>Document Your Workflow:</strong> Maintain detailed records of the parameters and tools used for QC and trimming. This ensures reproducibility and enables better troubleshooting.</p>
</li>
</ul><h3><strong>Conclusion</strong></h3><p>NGS quality control and trimming are essential steps to ensure reliable and accurate data for analysis. While the "ifs" highlight the clear benefits of these steps, the "buts" remind us of the potential pitfalls. By adopting best practices and carefully balancing these considerations, you can optimize your preprocessing workflow and unlock the full potential of your sequencing data.</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/17926/orange-bioinformatics-2534</guid>
	<pubDate>Mon, 06 Oct 2014 12:51:37 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/17926/orange-bioinformatics-2534</link>
	<title><![CDATA[Orange-Bioinformatics 2.5.34]]></title>
	<description><![CDATA[<p>Orange Bioinformatics extends <a href="http://orange.biolab.si/">Orange</a>, a data mining software package, with common functionality for bioinformatics. The provided functionality can be accessed as a Python library or through a visual programming interface (Orange Canvas). The latter is also suitable for non-programmers.</p>
<p>Orange Bioinformatics provides access to publicly available data, like GEO data sets, Biomart, GO, KEGG, Atlas, ArrayExpress, and PIPAx database. As for the analytics, there is gene selection, quality control, scoring distances between experiments with multiple factors. All features can be combined with powerful visualization, network exploration and data mining techniques from the Orange data mining framework.</p><p>Address of the bookmark: <a href="https://pypi.python.org/pypi/Orange-Bioinformatics/2.5.34" rel="nofollow">https://pypi.python.org/pypi/Orange-Bioinformatics/2.5.34</a></p>]]></description>
	<dc:creator>Robert M Willioms</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/18385/biinformamatics-lead-at-google-life-sciences</guid>
  <pubDate>Fri, 17 Oct 2014 02:24:55 -0500</pubDate>
  <link></link>
  <title><![CDATA[Biinformamatics Lead at Google Life Sciences]]></title>
  <description><![CDATA[
<p>Google Life Sciences is recruiting a technical lead with experience in bioinformatics and clinical bioinformatics, including for biomarker discovery projects such as the Baseline study.</p>

<p>Responsibilities</p>

<p>Lead teams of scientists in structuring, prototyping, and executing large-scale bioinformatic and other analysis.<br />Develop novel bioinformatics, statistical, data processing, pathway, data mining and other algorithms to identify biological signals and their clinical correlates in broad kinds of individual and population data.<br />Develop novel platform-level analytical tools for sequence-based assays (assembly, annotation, variant calling and interpretation, phasing, genome structure, etc.), expression assays (RNAseq and microarray), proteomics, and metabolomics.<br />Develop statistical models that robustly correlate complex laboratory-derived information with phenotypic and clinical information.<br />Create scientifically rigorous visualizations, communications, and presentations of results.</p>

<p>Reference @ https://www.google.com/about/careers/search#!t=jo&amp;jid=62095001</p>
]]></description>
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