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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/40544?offset=250</link>
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	<description><![CDATA[]]></description>
	
	<item>
	<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>
</item>
<item>
	<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>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37602/indexcov-fast-coverage-quality-control-for-whole-genome-sequencing</guid>
	<pubDate>Wed, 29 Aug 2018 09:20:46 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37602/indexcov-fast-coverage-quality-control-for-whole-genome-sequencing</link>
	<title><![CDATA[Indexcov: fast coverage quality control for whole-genome sequencing]]></title>
	<description><![CDATA[<p><em>indexcov</em><span>, an efficient estimator of whole-genome sequencing coverage to rapidly identify samples with aberrant coverage profiles, reveal large-scale chromosomal anomalies, recognize potential batch effects, and infer the sex of a sample.&nbsp;</span><em>Indexcov</em><span>&nbsp;is available at&nbsp;</span><a href="https://github.com/brentp/goleft" target="_blank">https://github.com/brentp/goleft</a><span>&nbsp;under the MIT license.</span></p><p>Address of the bookmark: <a href="https://github.com/brentp/goleft" rel="nofollow">https://github.com/brentp/goleft</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38205/sim3c-read-pair-simulation-of-3c-based-sequencing-methodologies-hic-meta3c-dnase-hic</guid>
	<pubDate>Tue, 13 Nov 2018 07:25:38 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38205/sim3c-read-pair-simulation-of-3c-based-sequencing-methodologies-hic-meta3c-dnase-hic</link>
	<title><![CDATA[sim3C: Read-pair simulation of 3C-based sequencing methodologies (HiC, Meta3C, DNase-HiC)]]></title>
	<description><![CDATA[<p><strong>Required python modules</strong></p>
<ul>
<li>biopython</li>
<li>intervaltree</li>
<li>numpy</li>
<li>scipy</li>
<li>tqdm</li>
<li>PyYAML</li>
</ul><p>Address of the bookmark: <a href="https://github.com/cerebis/sim3C" rel="nofollow">https://github.com/cerebis/sim3C</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38762/katuali-is-a-flexible-consensus-pipeline-implemented-in-snakemake-to-basecall-assemble-and-polish-oxford-nanopore-technologies-sequencing-data</guid>
	<pubDate>Tue, 22 Jan 2019 06:26:55 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38762/katuali-is-a-flexible-consensus-pipeline-implemented-in-snakemake-to-basecall-assemble-and-polish-oxford-nanopore-technologies-sequencing-data</link>
	<title><![CDATA[Katuali is a flexible consensus pipeline implemented in Snakemake to basecall, assemble, and polish Oxford Nanopore Technologies&#039; sequencing data]]></title>
	<description><![CDATA[<ul>
<li>Run a pipeline processing fast5s to a consensus in a single command.</li>
<li>Recommended fixed "standard" and "fast" pipelines.</li>
<li>Interchange basecaller, assembler, and consensus components of the pipelines simply by changing the target filepath.</li>
<li>Seemless distribution of tasks over local or distributed compute.</li>
<li>Highly configurable.</li>
<li>Open source (Mozilla Public License 2.0).</li>
</ul>
<p>Documentation can be found at&nbsp;<a href="https://nanoporetech.github.io/katuali/">https://nanoporetech.github.io/katuali/</a>.</p><p>Address of the bookmark: <a href="https://github.com/nanoporetech/katuali" rel="nofollow">https://github.com/nanoporetech/katuali</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40611/deepvariant-an-analysis-pipeline-that-uses-a-deep-neural-network-to-call-genetic-variants-from-next-generation-dna-sequencing-data</guid>
	<pubDate>Sat, 25 Jan 2020 13:28:09 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40611/deepvariant-an-analysis-pipeline-that-uses-a-deep-neural-network-to-call-genetic-variants-from-next-generation-dna-sequencing-data</link>
	<title><![CDATA[DeepVariant : an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.]]></title>
	<description><![CDATA[<p><span>DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.</span></p>
<p><span><span>DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data. DeepVariant relies on&nbsp;</span><a href="https://github.com/google/nucleus">Nucleus</a><span>, a library of Python and C++ code for reading and writing data in common genomics file formats (like SAM and VCF) designed for painless integration with the&nbsp;</span><a href="https://www.tensorflow.org/">TensorFlow</a><span>&nbsp;machine learning framework.</span></span></p>
<p><span><a href="https://ai.googleblog.com/2017/12/deepvariant-highly-accurate-genomes.html">https://ai.googleblog.com/2017/12/deepvariant-highly-accurate-genomes.html</a></span></p>
<p><span><a href="https://www.biorxiv.org/content/10.1101/092890v6">https://www.biorxiv.org/content/10.1101/092890v6</a></span></p>
<p><span><img src="https://4.bp.blogspot.com/-2KlXZO60sWE/WiGc8qlZfxI/AAAAAAAACOs/s1pNiKI8jsAvJLr1E_po5udDO8eObm_awCLcBGAs/s640/image3.png" width="640" height="427" alt="image" style="border: 0px;"></span></p><p>Address of the bookmark: <a href="https://github.com/google/deepvariant" rel="nofollow">https://github.com/google/deepvariant</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41046/iseqqc-a-tool-for-expression-based-quality-control-in-rna-sequencing</guid>
	<pubDate>Sun, 16 Feb 2020 08:47:17 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41046/iseqqc-a-tool-for-expression-based-quality-control-in-rna-sequencing</link>
	<title><![CDATA[iSeqQC: a tool for expression-based quality control in RNA sequencing]]></title>
	<description><![CDATA[<p><span>iSeqQC, an expression-based QC tool that detects outliers either produced due to variable laboratory conditions or due to dissimilarity within a phenotypic group. iSeqQC implements various statistical approaches including unsupervised clustering, agglomerative hierarchical clustering and correlation coefficients to provide insight into outliers.</span></p>
<p><a href="http://cancerwebpa.jefferson.edu/iSeqQC/">http://cancerwebpa.jefferson.edu/iSeqQC/</a></p>
<p><a href="https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-020-3399-8">https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-020-3399-8</a></p><p>Address of the bookmark: <a href="https://github.com/gkumar09/iSeqQC" rel="nofollow">https://github.com/gkumar09/iSeqQC</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42826/ktrim-an-extra-fast-and-accurate-adapter-and-quality-trimmer-for-sequencing-data</guid>
	<pubDate>Thu, 11 Feb 2021 21:39:05 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42826/ktrim-an-extra-fast-and-accurate-adapter-and-quality-trimmer-for-sequencing-data</link>
	<title><![CDATA[Ktrim: an extra-fast and accurate adapter- and quality-trimmer for sequencing data]]></title>
	<description><![CDATA[<p>Ktrim&nbsp;is written in&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">C++</code>&nbsp;for GNU Linux/Unix platforms. After uncompressing the source package, you can find an executable file&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">ktrim</code>&nbsp;under&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">bin/</code>&nbsp;directory compiled using&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">g++ v4.8.5</code>&nbsp;and linked with&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libz v1.2.7</code>&nbsp;for Linux x86_64 system. If you could not run it (which is usually caused by low version of&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libc++</code>&nbsp;or&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libz</code>&nbsp;library) or you want to build a version optimized for your system, you can re-compile the programs:</p>
<p>user@linux$ make clean &amp;&amp; make</p><p>Address of the bookmark: <a href="https://github.com/hellosunking/Ktrim" rel="nofollow">https://github.com/hellosunking/Ktrim</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/1295/five-points-for-bioinformatics-softwaretools</guid>
	<pubDate>Mon, 05 Aug 2013 04:12:32 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/1295/five-points-for-bioinformatics-softwaretools</link>
	<title><![CDATA[Five points for bioinformatics software/tools]]></title>
	<description><![CDATA[<p><span>In the bioinformatics sector we mostly spend time on computational analysis of huge amounts of data and try to make sense of it, biologically. But, most of the newbie bioinformaticians are faced with dilemma when they receive biological sequence data for the first time. They mostly found confusing over open source, user friendly GUI, and commercial bioinformatics software. Don&rsquo;t be surprise this is true and also not an easy task to decide, because analytical step is the most crucial part and believe to be the biggest bottleneck in publishing paper in high impact journals. Through this blog I would like to address the pros and cons of both kind of software/tools and try to assist (Hmmm not really, It looks convince) you to make decision on your software selections.</span></p><p><span><img src="http://bioinformaticsonline.com/mod/photo/five.jpg" alt="image" style="border: 0px;"></span></p><p><span>The most common newbie questions are:</span><span></span></p><p><span>Should I try to use these free open source programs? &nbsp;Why are we not trying GUI software for computational analysis? Should I use commercial bioinformatics programs/software?&rdquo;</span><span><br /></span><span><br />1. Let&rsquo;s be open</span><span></span></p><p><span>We generally think free and cheap are useless. But this concept is not applicable when we discuss open source software. Mostly, the bioinformatics software is developed by highly competitive biological programmers who believe in open sharing of knowledge. They come under Open Bioinformatics Foundation or O|B|F which is a non-profit, volunteer run organization focused on supporting open source programming in bioinformatics. The best part about open source tools/software is that they&rsquo;re free to download the source code and read exactly what the program does. If you are so inclined, you can view all of the parts of the program and see the logical flow of the pipeline. In addition, open source makes an excellent learning tool for any beginning bioinformatician. Moreover, you can modify existing open source programs to deal with cutting-edge problems or to customize your pipeline.</span><span>&nbsp;</span><span>Apart from your computational and analysis work, most of the reviewer also prefers the open source based results so that they can validate the results if validation required.</span></p><p><span>2. Code headache</span><span></span></p><p><span>As a bioinformatician you are supposed to know the basics of programming languages, and if you are not good at it, then please learn it as soon as possible because you are not a bio-analyst but biological programmers. The<span>&nbsp;</span>open source programs usually lack dedicated service and support teams (often because they were the product of an overworked doc/postdoc!) so you are responsible for troubleshooting your own errors most of the time.<span>&nbsp;</span>We commonly receive the HELP email to support and assist to setup the pipeline; you can also find this kind of request on any QA forum. I personally believe this coding horror brings the biggest downside of open-source programs; where you need some programming skills in order to implement the program in your pipeline. But, if you are not able to fix the pipeline and modify the open source code according to your requirements them you should re-think on your bioinformatician name tag!!!</span><span></span></p><p><span>3. Dive into the codes</span><span></span></p><p><span>Some of the biologist turn bioinformatician says &ldquo;if you can do the same thing with commercial software then why to get migraine with weird codes&rdquo;, well this statement looks to me that guys are keen to learn swimming but still don&rsquo;t like to get wet. If you are still using paid software and doing your work by customer support and clicking some of the well-designed GUI button then perhaps you are not interested in learning and trying new and challenging bioinformatics works. You are missing the basic flavour of bioinformatics. Let&rsquo;s dive into the coding world, I am sure your will enjoy it. I recommend your to swim freely in code&rsquo;s sea, and enjoy the journey; do not merely watch it from the outside. &nbsp;</span></p><p><span>4. Paid does not mean better</span><span></span></p><p><span>The bioinformatics company which are specializes in bioinformatics solutions develop well designed/packed, user friendly software by using a large number of specialised scientist, programmers and support staff. They also provide good services to accomplice your biological analysis work. This means that if you hit a &lsquo;snag&rsquo; with your data, help is likely only a phone call away! These companies price their products competitively against the cost of a dedicated bioinformatician. You may be able to afford the program, but not the additional staff! Additionally, most of the functionality that you need in your analysis is already coded into the program. Need to plot a graph? Just click this button right here. It is that easy.</span><span>&nbsp;</span><span>But, as a bioinformatician this is not generally well encouraged approach in biological analysis work, because the software is not available to everyone and your data can&rsquo;t be validated. Moreover, there is very less chances that anyone will repeat your work or love to do similar kind of research (because not all the labs in the world are rich like yours).</span></p><p><span>5. Take a caution<br /><br />In biological analysis work, in which you deal GB/TB of data are having maximum chances of getting errors, so please be careful and always cross check your data before coming to any conclusion. Even an error in two line code can alter your entire analysis and display weird results. Some of the scientist blindly believes on commercial software, which is entirely wrong. Using proprietary tools does not absolve you of the need to actually read and research the type of analysis that you are doing. This is particularly true in the case of genome assembly and annotation.</span></p><p><span><br />At the end, I would like to tell only one think that open source solutions allows you to do more cutting edge analysis than the commercial tools. So let&rsquo;s go for it.</span></p><p>Disclaimer:</p><p>This is my personal view. I have nothing to do with any company or open source community.&nbsp;The views expressed on these pages are mine alone and not those of my current/past employers. I do reserve the right to remove comments left by spammers or off-topic comments.</p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/9028/linux-for-bioinformatician</guid>
	<pubDate>Thu, 13 Mar 2014 16:59:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/9028/linux-for-bioinformatician</link>
	<title><![CDATA[Linux for bioinformatician !!!]]></title>
	<description><![CDATA[<p>Linux, free operating system for computers, provides several powerful admin tools and utilities which will help you to manage your systems effectively and handle huge amount of genomic/biological data with an ease. The field of bioinformatics relies heavily on Linux-based computers and software. Although most bioinformatics programs can be compiled to run. If you don&rsquo;t know what these no so user-friendly tools are and how to use them, you could be spending lot of time trying to perform even the basic admin tasks. The focus of this linux series is to help you understand system admin as well as basic tools, which will help you to become an effective bioinformatician and computational biologist.<br /><br /></p><p>For knowledge about Linux and their importance amongst bioinformatician plesae read this article "<a href="http://www.ualberta.ca/~stothard/downloads/linux_for_bioinformatics.pdf">An introduction to Linux for bioinformatics</a>" by Paul Stothard.</p><p>Linux cheat sheet at http://bioinformaticsonline.com/file/view/87/linux-cheat-sheet</p><p>Please browse for futher useful linux pages on right hand side ...</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>

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