<?xml version='1.0'?><rss version="2.0" xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:georss="http://www.georss.org/georss" xmlns:atom="http://www.w3.org/2005/Atom" >
<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/3965?offset=10</link>
	<atom:link href="https://bioinformaticsonline.com/related/3965?offset=10" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/27967/linux-command-line-exercises-for-ngs-data-processing</guid>
	<pubDate>Wed, 22 Jun 2016 07:59:39 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/27967/linux-command-line-exercises-for-ngs-data-processing</link>
	<title><![CDATA[Linux command line exercises for NGS data processing]]></title>
	<description><![CDATA[<p>The purpose of this tutorial is to introduce students to the frequently used tools for NGS analysis as well as giving experience in writing one-liners. Copy the required files to your current directory, change directory (<code>cd</code>) to the <code>linuxTutorial</code> folder, and do all the processing inside:</p>
<pre><span>[uzi@quince-srv2 ~/]$</span> cp -r /home/opt/MScBioinformatics/linuxTutorial .
<span>[uzi@quince-srv2 ~/]$</span> cd linuxTutorial
<span>[uzi@quince-srv2 ~/linuxTutorial]$</span>
</pre>
<p>I have deliberately chosen <code>Awk</code> in the exercises as it is a language in itself and is used more often to manipulate NGS data as compared to the other command line tools such as <code>grep</code>, <code>sed</code>, <code>perl</code> etc. Furthermore, having a command on <code>awk</code> will make it easier to understand advanced tutorials such as <a href="http://userweb.eng.gla.ac.uk/umer.ijaz/bioinformatics/Illumina_workflow.html">Illumina Amplicons Processing Workflow</a>. <br><br> In <code>Linux</code>, we use a shell that is a program that takes your commands from the keyboard and gives them to the operating system. Most Linux systems utilize Bourne Again SHell (<code>bash</code>), but there are several additional shell programs on a typical Linux system such as <code>ksh</code>, <code>tcsh</code>, and <code>zsh</code>. To see which shell you are using, type</p>
<pre><span>[uzi@quince-srv2 ~/linuxTutorial]$</span> echo $SHELL

<span>/bin/bash
</span></pre><p>Address of the bookmark: <a href="http://userweb.eng.gla.ac.uk/umer.ijaz/bioinformatics/linux.html" rel="nofollow">http://userweb.eng.gla.ac.uk/umer.ijaz/bioinformatics/linux.html</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/30336/finding-patterns-in-biological-sequences</guid>
	<pubDate>Thu, 22 Dec 2016 10:30:49 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/30336/finding-patterns-in-biological-sequences</link>
	<title><![CDATA[Finding Patterns in Biological Sequences]]></title>
	<description><![CDATA[<p>In this report we provide an overview of known techniques for discovery of patterns of biological sequences (DNA and proteins). We also provide biological motivation, and methods of biological verification of such patterns. Finally we list publicly available tools and databases for pattern discovery. On-line supplement is available through http://genetics.uwaterloo.ca/&sim;tvinar/cs798g/motif.</p><p>Address of the bookmark: <a href="http://engr.case.edu/li_jing/papers/00798gpattern.pdf" rel="nofollow">http://engr.case.edu/li_jing/papers/00798gpattern.pdf</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/33398/tiny-python36-notebook</guid>
	<pubDate>Sat, 03 Jun 2017 03:16:28 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/33398/tiny-python36-notebook</link>
	<title><![CDATA[Tiny Python3.6 Notebook]]></title>
	<description><![CDATA[<p><span>This is not so much an instructional manual, but rather notes, tables, and examples for Python syntax. It was created by the author as an additional resource during training, meant to be distributed as a physical notebook. Participants (who favor the physical characteristics of dead tree material) could add their own notes, thoughts, and have a valuable reference of curated examples.</span></p><p>Address of the bookmark: <a href="https://github.com/mattharrison/Tiny-Python-3.6-Notebook/blob/master/python.rst" rel="nofollow">https://github.com/mattharrison/Tiny-Python-3.6-Notebook/blob/master/python.rst</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44865/snp-analysis-unlocking-the-secrets-in-our-dna</guid>
	<pubDate>Wed, 16 Jul 2025 01:31:45 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44865/snp-analysis-unlocking-the-secrets-in-our-dna</link>
	<title><![CDATA[SNP Analysis: Unlocking the Secrets in Our DNA]]></title>
	<description><![CDATA[<p>Single Nucleotide Polymorphisms (SNPs) are the most common type of genetic variation in humans&mdash;and many other organisms. A single base change in the DNA sequence (for example, an A instead of a G) can influence everything from our eye color to our risk of developing diseases. Analyzing these tiny changes has become central to modern genetics, medicine, agriculture, and evolutionary biology.</p><p><strong>What are SNPs?</strong><br />SNPs (pronounced "snips") are positions in the genome where individuals differ by a single nucleotide. For example:</p><p>Reference: ...A T G C A T G A...<br />Variant:&nbsp; &nbsp; &nbsp;...A T G T A T G A...</p><p>Here, the C in the reference genome has been replaced by a T in the variant.</p><p>SNPs occur roughly every 300&ndash;1,000 bases in the human genome, meaning there are millions of them scattered throughout our DNA. Most SNPs have no effect on health, but some are linked to disease susceptibility, drug response, and other traits.</p><p><strong>Why Do We Analyze SNPs?</strong><br />1. Medical Genetics</p><p>Identify disease-associated variants (e.g., BRCA1/2 in breast cancer).</p><p>Predict drug response (pharmacogenomics).</p><p>Enable precision medicine by tailoring treatments.</p><p>2. Population Genetics &amp; Ancestry</p><p>Trace human migration and ancestry.</p><p>Study genetic diversity within and between populations.</p><p>3. Agriculture &amp; Animal Breeding</p><p>Select for desirable traits (drought resistance, yield, disease resistance).</p><p>Improve breeding efficiency in livestock.</p><p>4. Evolutionary Biology</p><p>Track natural selection.</p><p>Study adaptation in wild populations.</p><p><strong>How is SNP Analysis Performed?</strong><br />SNP analysis can be broadly divided into three steps:</p><p>SNP Detection<br />Genotyping arrays: Chips that test hundreds of thousands of known SNP positions simultaneously. Fast and affordable, widely used in consumer ancestry testing.</p><p>Whole-genome or whole-exome sequencing: Can detect known and novel SNPs across the genome.</p><p>Targeted sequencing or PCR: For focused analysis of specific regions.</p><p>Variant Calling<br />Sequencing data is aligned to a reference genome. Bioinformatics tools (e.g., GATK, bcftools) identify positions where the sequenced sample differs from the reference.</p><p>Annotation and Interpretation<br />Tools (e.g., SnpEff, VEP) predict the functional impact of SNPs.</p><p>Are the SNPs in coding regions? Do they cause amino acid changes? Are they known to be pathogenic?</p><p>Databases like dbSNP, ClinVar, and GWAS Catalog provide information on known associations.</p><p>Common Tools for SNP Analysis<br />Alignment: BWA, Bowtie2</p><p>Variant Calling: GATK, FreeBayes</p><p>Visualization: IGV, UCSC Genome Browser</p><p>Annotation: SnpEff, VEP</p><p>Statistical Analysis: PLINK, SNPTEST</p><p><strong>Challenges in SNP Analysis</strong><br />False positives/negatives: Sequencing errors, alignment issues.</p><p>Population stratification: Confounding in association studies.</p><p>Interpretation: Many SNPs have unknown or complex effects.</p><p>Researchers address these with rigorous quality control, large datasets, and increasingly sophisticated statistical models.</p><p><strong>The Future of SNP Analysis</strong><br />With advances in sequencing technology and AI-driven analysis, SNP studies are expanding:</p><p>Polygenic risk scores predict disease risk based on thousands of SNPs.</p><p>Large-scale biobanks (e.g., UK Biobank, All of Us) enable powerful genome-wide association studies (GWAS).</p><p>CRISPR and functional assays help validate SNP effects in the lab.</p><p>SNP analysis is at the heart of the genomic revolution, promising insights into biology, health, and evolution at unprecedented scale.</p><p><strong>Conclusion</strong><br />From diagnosing rare diseases to designing better crops, SNP analysis is a foundational tool in modern science. As our ability to sequence and interpret genomes improves, so will our understanding of these tiny&mdash;but mighty&mdash;variations in DNA.</p><p>&nbsp;</p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/34463/single-cell-rnaseq-data-analysis-tutorial</guid>
	<pubDate>Mon, 27 Nov 2017 16:24:29 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/34463/single-cell-rnaseq-data-analysis-tutorial</link>
	<title><![CDATA[Single Cell RNAseq data analysis tutorial !!]]></title>
	<description><![CDATA[<ul>
<li>A major breakthrough (replaced microarrays) in the late 00&rsquo;s and has been widely used since</li>
<li>Measures the&nbsp;average expression level&nbsp;for each gene across a large population of input cells</li>
<li>Useful for comparative transcriptomics, e.g.&nbsp;samples of the same tissue from different species</li>
<li>Useful for quantifying expression signatures from ensembles, e.g.&nbsp;in disease studies</li>
<li>Insufficient&nbsp;for studying heterogeneous systems, e.g.&nbsp;early development studies, complex tissues (brain)</li>
<li>Does&nbsp;not&nbsp;provide insights into the stochastic nature of gene expression</li>
</ul><p>Following are the useful links:</p><p><a href="http://hemberg-lab.github.io/scRNA.seq.course/scRNA-seq-course.pdf" target="_blank">Single Cell RNAseq data analysis Tutorial</a></p><p><a href="https://f1000research.com/articles/5-2122/v2" target="_blank">A step-by-step workflow for low-level analysis of single-cell RNA-seq data</a></p><p><a href="https://www.bioconductor.org/help/workflows/simpleSingleCell/" target="_blank">A step-by-step workflow for low-level analysis of single-cell RNA-seq data with Bioconductor</a></p><p>SCell: single-cell RNA-seq analysis software</p><p><a href="https://github.com/diazlab/SCell">https://github.com/diazlab/SCell</a></p><p>Beta-Poisson model for single-cell RNA-seq data analyses</p><p><a href="https://github.com/nghiavtr/BPSC">https://github.com/nghiavtr/BPSC</a></p><p>Sincera: A Computational Pipeline for Single Cell RNA-Seq Profiling Analysis</p><p><a href="https://research.cchmc.org/pbge/sincera.html">https://research.cchmc.org/pbge/sincera.html</a></p><p>SC3 &ndash; consensus clustering of single-cell RNA-Seq data</p><p><a href="http://biorxiv.org/content/early/2016/09/02/036558">http://biorxiv.org/content/early/2016/09/02/036558</a></p><p>Citrus: A toolkit for single cell sequencing analysis</p><p><a href="http://biorxiv.org/content/early/2016/09/14/045070">http://biorxiv.org/content/early/2016/09/14/045070</a></p><p>Single-Cell Resolution of Temporal Gene Expression during Heart Development</p><p><a href="http://www.cell.com/developmental-cell/fulltext/S1534-5807%2816%2930682-7">http://www.cell.com/developmental-cell/fulltext/S1534-5807(16)30682-7</a></p><p>Scalable latent-factor models applied to single-cell RNA-seq data separate biological drivers from confounding effects</p><p><a href="http://biorxiv.org/content/early/2016/11/15/087775">http://biorxiv.org/content/early/2016/11/15/087775</a></p><p>Single cell transcriptomes identify human islet cell signatures and reveal cell-type-specific expression changes in type 2 diabetes</p><p><a href="http://genome.cshlp.org/content/early/2016/11/18/gr.212720.116.abstract">http://genome.cshlp.org/content/early/2016/11/18/gr.212720.116.abstract</a></p><p>SCODE: An efficient regulatory network inference algorithm from single-cell RNA-Seq during differentiation</p><p><a href="http://biorxiv.org/content/early/2016/11/21/088856">http://biorxiv.org/content/early/2016/11/21/088856</a></p><p>SCOUP is a probabilistic model to analyze single-cell expression data during differentiation</p><p><a href="https://github.com/hmatsu1226/SCOUP">https://github.com/hmatsu1226/SCOUP</a></p><p>scLVM is a modelling framework for single-cell RNA-seq data</p><p><a href="https://github.com/PMBio/scLVM">https://github.com/PMBio/scLVM</a></p><p>Selective Locally linear Inference of Cellular Expression Relationships (SLICER) algorithm for inferring cell trajectories</p><p><a href="https://github.com/jw156605/SLICER">https://github.com/jw156605/SLICER</a></p><p>SinQC: A Method and Tool to Control Single-cell RNA-seq Data Quality</p><p><a href="http://www.morgridge.net/SinQC.html">http://www.morgridge.net/SinQC.html</a></p><p>TSCAN: Pseudo-time reconstruction and evaluation in single-cell RNA-seq analysis</p><p><a href="https://github.com/zji90/TSCAN">https://github.com/zji90/TSCAN</a></p><p>Visualization and cellular hierarchy inference of single-cell data using SPADE</p><p><a href="http://www.nature.com/nprot/journal/v11/n7/full/nprot.2016.066.html">http://www.nature.com/nprot/journal/v11/n7/full/nprot.2016.066.html</a></p><p>OEFinder: Identify ordering effect genes in single cell RNA-seq data</p><p><a href="https://github.com/lengning/OEFinder">https://github.com/lengning/OEFinder</a></p>]]></description>
	<dc:creator>Robert M Willioms</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/39307/awk-for-beginners</guid>
	<pubDate>Fri, 26 Apr 2019 16:19:41 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/39307/awk-for-beginners</link>
	<title><![CDATA[AWK for beginners !]]></title>
	<description><![CDATA[<p>AWK is a standard tool on every POSIX-compliant UNIX system. It&rsquo;s like flex/lex, from the command-line, perfect for text-processing tasks and other scripting needs. It has a C-like syntax, but without mandatory semicolons (although, you should use them anyway, because they are required when you&rsquo;re writing one-liners, something AWK excels at), manual memory management, or static typing. It excels at text processing. You can call to it from a shell script, or you can use it as a stand-alone scripting language.</p><p>Why use AWK instead of Perl? Readability. AWK is easier to read than Perl. For simple text-processing scripts, particularly ones that read files line by line and split on delimiters, AWK is probably the right tool for the job.</p><div><pre><span>#!/usr/bin/awk -f</span>

<span># Comments are like this</span>


<span># AWK programs consist of a collection of patterns and actions.</span>
<span>pattern1</span> <span>{</span> <span>action</span><span>;</span> <span>}</span> <span># just like lex</span>
<span>pattern2</span> <span>{</span> <span>action</span><span>;</span> <span>}</span>

<span># There is an implied loop and AWK automatically reads and parses each</span>
<span># record of each file supplied. Each record is split by the FS delimiter,</span>
<span># which defaults to white-space (multiple spaces,tabs count as one)</span>
<span># You can assign FS either on the command line (-F C) or in your BEGIN</span>
<span># pattern</span>

<span># One of the special patterns is BEGIN. The BEGIN pattern is true</span>
<span># BEFORE any of the files are read. The END pattern is true after</span>
<span># an End-of-file from the last file (or standard-in if no files specified)</span>
<span># There is also an output field separator (OFS) that you can assign, which</span>
<span># defaults to a single space</span>

<span>BEGIN</span> <span>{</span>

    <span># BEGIN will run at the beginning of the program. It's where you put all</span>
    <span># the preliminary set-up code, before you process any text files. If you</span>
    <span># have no text files, then think of BEGIN as the main entry point.</span>

    <span># Variables are global. Just set them or use them, no need to declare..</span>
    <span>count</span> <span>=</span> <span>0</span><span>;</span>

    <span># Operators just like in C and friends</span>
    <span>a</span> <span>=</span> <span>count</span> <span>+</span> <span>1</span><span>;</span>
    <span>b</span> <span>=</span> <span>count</span> <span>-</span> <span>1</span><span>;</span>
    <span>c</span> <span>=</span> <span>count</span> <span>*</span> <span>1</span><span>;</span>
    <span>d</span> <span>=</span> <span>count</span> <span>/</span> <span>1</span><span>;</span> <span># integer division</span>
    <span>e</span> <span>=</span> <span>count</span> <span>%</span> <span>1</span><span>;</span> <span># modulus</span>
    <span>f</span> <span>=</span> <span>count</span> <span>^</span> <span>1</span><span>;</span> <span># exponentiation</span>

    <span>a</span> <span>+=</span> <span>1</span><span>;</span>
    <span>b</span> <span>-=</span> <span>1</span><span>;</span>
    <span>c</span> <span>*=</span> <span>1</span><span>;</span>
    <span>d</span> <span>/=</span> <span>1</span><span>;</span>
    <span>e</span> <span>%=</span> <span>1</span><span>;</span>
    <span>f</span> <span>^=</span> <span>1</span><span>;</span>

    <span># Incrementing and decrementing by one</span>
    <span>a</span><span>++</span><span>;</span>
    <span>b</span><span>--</span><span>;</span>

    <span># As a prefix operator, it returns the incremented value</span>
    <span>++</span><span>a</span><span>;</span>
    <span>--</span><span>b</span><span>;</span>

    <span># Notice, also, no punctuation such as semicolons to terminate statements</span>

    <span># Control statements</span>
    <span>if</span> <span>(</span><span>count</span> <span>==</span> <span>0</span><span>)</span>
        <span>print</span> <span>"Starting with count of 0"</span><span>;</span>
    <span>else</span>
        <span>print</span> <span>"Huh?"</span><span>;</span>

    <span># Or you could use the ternary operator</span>
    <span>print</span> <span>(</span><span>count</span> <span>==</span> <span>0</span><span>)</span> <span>?</span> <span>"Starting with count of 0"</span> <span>:</span> <span>"Huh?"</span><span>;</span>

    <span># Blocks consisting of multiple lines use braces</span>
    <span>while</span> <span>(</span><span>a</span> <span>&lt;</span> <span>10</span><span>)</span> <span>{</span>
        <span>print</span> <span>"String concatenation is done"</span> <span>" with a series"</span> <span>" of"</span>
            <span>" space-separated strings"</span><span>;</span>
        <span>print</span> <span>a</span><span>;</span>

        <span>a</span><span>++</span><span>;</span>
    <span>}</span>

    <span>for</span> <span>(</span><span>i</span> <span>=</span> <span>0</span><span>;</span> <span>i</span> <span>&lt;</span> <span>10</span><span>;</span> <span>i</span><span>++</span><span>)</span>
        <span>print</span> <span>"Good ol' for loop"</span><span>;</span>

    <span># As for comparisons, they're the standards:</span>
    <span># a &lt; b   # Less than</span>
    <span># a &lt;= b  # Less than or equal</span>
    <span># a != b  # Not equal</span>
    <span># a == b  # Equal</span>
    <span># a &gt; b   # Greater than</span>
    <span># a &gt;= b  # Greater than or equal</span>

    <span># Logical operators as well</span>
    <span># a &amp;&amp; b  # AND</span>
    <span># a || b  # OR</span>

    <span># In addition, there's the super useful regular expression match</span>
    <span>if</span> <span>(</span><span>"foo"</span> <span>~</span> <span>"^fo+$"</span><span>)</span>
        <span>print</span> <span>"Fooey!"</span><span>;</span>
    <span>if</span> <span>(</span><span>"boo"</span> <span>!~</span> <span>"^fo+$"</span><span>)</span>
        <span>print</span> <span>"Boo!"</span><span>;</span>

    <span># Arrays</span>
    <span>arr</span><span>[</span><span>0</span><span>]</span> <span>=</span> <span>"foo"</span><span>;</span>
    <span>arr</span><span>[</span><span>1</span><span>]</span> <span>=</span> <span>"bar"</span><span>;</span>

    <span># You can also initialize an array with the built-in function split()</span>

    <span>n</span> <span>=</span> <span>split</span><span>(</span><span>"foo:bar:baz"</span><span>,</span> <span>arr</span><span>,</span> <span>":"</span><span>);</span>

    <span># You also have associative arrays (actually, they're all associative arrays)</span>
    <span>assoc</span><span>[</span><span>"foo"</span><span>]</span> <span>=</span> <span>"bar"</span><span>;</span>
    <span>assoc</span><span>[</span><span>"bar"</span><span>]</span> <span>=</span> <span>"baz"</span><span>;</span>

    <span># And multi-dimensional arrays, with some limitations I won't mention here</span>
    <span>multidim</span><span>[</span><span>0</span><span>,</span><span>0</span><span>]</span> <span>=</span> <span>"foo"</span><span>;</span>
    <span>multidim</span><span>[</span><span>0</span><span>,</span><span>1</span><span>]</span> <span>=</span> <span>"bar"</span><span>;</span>
    <span>multidim</span><span>[</span><span>1</span><span>,</span><span>0</span><span>]</span> <span>=</span> <span>"baz"</span><span>;</span>
    <span>multidim</span><span>[</span><span>1</span><span>,</span><span>1</span><span>]</span> <span>=</span> <span>"boo"</span><span>;</span>

    <span># You can test for array membership</span>
    <span>if</span> <span>(</span><span>"foo"</span> <span>in</span> <span>assoc</span><span>)</span>
        <span>print</span> <span>"Fooey!"</span><span>;</span>

    <span># You can also use the 'in' operator to traverse the keys of an array</span>
    <span>for</span> <span>(</span><span>key</span> <span>in</span> <span>assoc</span><span>)</span>
        <span>print</span> <span>assoc</span><span>[</span><span>key</span><span>];</span>

    <span># The command line is in a special array called ARGV</span>
    <span>for</span> <span>(</span><span>argnum</span> <span>in</span> <span>ARGV</span><span>)</span>
        <span>print</span> <span>ARGV</span><span>[</span><span>argnum</span><span>];</span>

    <span># You can remove elements of an array</span>
    <span># This is particularly useful to prevent AWK from assuming the arguments</span>
    <span># are files for it to process</span>
    <span>delete</span> <span>ARGV</span><span>[</span><span>1</span><span>];</span>

    <span># The number of command line arguments is in a variable called ARGC</span>
    <span>print</span> <span>ARGC</span><span>;</span>

    <span># AWK has several built-in functions. They fall into three categories. I'll</span>
    <span># demonstrate each of them in their own functions, defined later.</span>

    <span>return_value</span> <span>=</span> <span>arithmetic_functions</span><span>(</span><span>a</span><span>,</span> <span>b</span><span>,</span> <span>c</span><span>);</span>
    <span>string_functions</span><span>();</span>
    <span>io_functions</span><span>();</span>
<span>}</span>

<span># Here's how you define a function</span>
<span>function</span> <span>arithmetic_functions</span><span>(</span><span>a</span><span>,</span> <span>b</span><span>,</span> <span>c</span><span>,</span>     <span>d</span><span>)</span> <span>{</span>

    <span># Probably the most annoying part of AWK is that there are no local</span>
    <span># variables. Everything is global. For short scripts, this is fine, even</span>
    <span># useful, but for longer scripts, this can be a problem.</span>

    <span># There is a work-around (ahem, hack). Function arguments are local to the</span>
    <span># function, and AWK allows you to define more function arguments than it</span>
    <span># needs. So just stick local variable in the function declaration, like I</span>
    <span># did above. As a convention, stick in some extra whitespace to distinguish</span>
    <span># between actual function parameters and local variables. In this example,</span>
    <span># a, b, and c are actual parameters, while d is merely a local variable.</span>

    <span># Now, to demonstrate the arithmetic functions</span>

    <span># Most AWK implementations have some standard trig functions</span>
    <span>localvar</span> <span>=</span> <span>sin</span><span>(</span><span>a</span><span>);</span>
    <span>localvar</span> <span>=</span> <span>cos</span><span>(</span><span>a</span><span>);</span>
    <span>localvar</span> <span>=</span> <span>atan2</span><span>(</span><span>b</span><span>,</span> <span>a</span><span>);</span> <span># arc tangent of b / a</span>

    <span># And logarithmic stuff</span>
    <span>localvar</span> <span>=</span> <span>exp</span><span>(</span><span>a</span><span>);</span>
    <span>localvar</span> <span>=</span> <span>log</span><span>(</span><span>a</span><span>);</span>

    <span># Square root</span>
    <span>localvar</span> <span>=</span> <span>sqrt</span><span>(</span><span>a</span><span>);</span>

    <span># Truncate floating point to integer</span>
    <span>localvar</span> <span>=</span> <span>int</span><span>(</span><span>5.34</span><span>);</span> <span># localvar =&gt; 5</span>

    <span># Random numbers</span>
    <span>srand</span><span>();</span> <span># Supply a seed as an argument. By default, it uses the time of day</span>
    <span>localvar</span> <span>=</span> <span>rand</span><span>();</span> <span># Random number between 0 and 1.</span>

    <span># Here's how to return a value</span>
    <span>return</span> <span>localvar</span><span>;</span>
<span>}</span>

<span>function</span> <span>string_functions</span><span>(</span>    <span>localvar</span><span>,</span> <span>arr</span><span>)</span> <span>{</span>

    <span># AWK, being a string-processing language, has several string-related</span>
    <span># functions, many of which rely heavily on regular expressions.</span>

    <span># Search and replace, first instance (sub) or all instances (gsub)</span>
    <span># Both return number of matches replaced</span>
    <span>localvar</span> <span>=</span> <span>"fooooobar"</span><span>;</span>
    <span>sub</span><span>(</span><span>"fo+"</span><span>,</span> <span>"Meet me at the "</span><span>,</span> <span>localvar</span><span>);</span> <span># localvar =&gt; "Meet me at the bar"</span>
    <span>gsub</span><span>(</span><span>"e+"</span><span>,</span> <span>"."</span><span>,</span> <span>localvar</span><span>);</span> <span># localvar =&gt; "m..t m. at th. bar"</span>

    <span># Search for a string that matches a regular expression</span>
    <span># index() does the same thing, but doesn't allow a regular expression</span>
    <span>match</span><span>(</span><span>localvar</span><span>,</span> <span>"t"</span><span>);</span> <span># =&gt; 4, since the 't' is the fourth character</span>

    <span># Split on a delimiter</span>
    <span>n</span> <span>=</span> <span>split</span><span>(</span><span>"foo-bar-baz"</span><span>,</span> <span>arr</span><span>,</span> <span>"-"</span><span>);</span> <span># a[1] = "foo"; a[2] = "bar"; a[3] = "baz"; n = 3</span>

    <span># Other useful stuff</span>
    <span>sprintf</span><span>(</span><span>"%s %d %d %d"</span><span>,</span> <span>"Testing"</span><span>,</span> <span>1</span><span>,</span> <span>2</span><span>,</span> <span>3</span><span>);</span> <span># =&gt; "Testing 1 2 3"</span>
    <span>substr</span><span>(</span><span>"foobar"</span><span>,</span> <span>2</span><span>,</span> <span>3</span><span>);</span> <span># =&gt; "oob"</span>
    <span>substr</span><span>(</span><span>"foobar"</span><span>,</span> <span>4</span><span>);</span> <span># =&gt; "bar"</span>
    <span>length</span><span>(</span><span>"foo"</span><span>);</span> <span># =&gt; 3</span>
    <span>tolower</span><span>(</span><span>"FOO"</span><span>);</span> <span># =&gt; "foo"</span>
    <span>toupper</span><span>(</span><span>"foo"</span><span>);</span> <span># =&gt; "FOO"</span>
<span>}</span>

<span>function</span> <span>io_functions</span><span>(</span>    <span>localvar</span><span>)</span> <span>{</span>

    <span># You've already seen print</span>
    <span>print</span> <span>"Hello world"</span><span>;</span>

    <span># There's also printf</span>
    <span>printf</span><span>(</span><span>"%s %d %d %d\n"</span><span>,</span> <span>"Testing"</span><span>,</span> <span>1</span><span>,</span> <span>2</span><span>,</span> <span>3</span><span>);</span>

    <span># AWK doesn't have file handles, per se. It will automatically open a file</span>
    <span># handle for you when you use something that needs one. The string you used</span>
    <span># for this can be treated as a file handle, for purposes of I/O. This makes</span>
    <span># it feel sort of like shell scripting, but to get the same output, the string</span>
    <span># must match exactly, so use a variable:</span>

    <span>outfile</span> <span>=</span> <span>"/tmp/foobar.txt"</span><span>;</span>

    <span>print</span> <span>"foobar"</span> <span>&gt;</span> <span>outfile</span><span>;</span>

    <span># Now the string outfile is a file handle. You can close it:</span>
    <span>close</span><span>(</span><span>outfile</span><span>);</span>

    <span># Here's how you run something in the shell</span>
    <span>system</span><span>(</span><span>"echo foobar"</span><span>);</span> <span># =&gt; prints foobar</span>

    <span># Reads a line from standard input and stores in localvar</span>
    <span>getline</span> <span>localvar</span><span>;</span>

    <span># Reads a line from a pipe (again, use a string so you close it properly)</span>
    <span>cmd</span> <span>=</span> <span>"echo foobar"</span><span>;</span>
    <span>cmd</span> <span>|</span> <span>getline</span> <span>localvar</span><span>;</span> <span># localvar =&gt; "foobar"</span>
    <span>close</span><span>(</span><span>cmd</span><span>);</span>

    <span># Reads a line from a file and stores in localvar</span>
    <span>infile</span> <span>=</span> <span>"/tmp/foobar.txt"</span><span>;</span>
    <span>getline</span> <span>localvar</span> <span>&lt;</span> <span>infile</span><span>;</span> 
    <span>close</span><span>(</span><span>infile</span><span>);</span>
<span>}</span>

<span># As I said at the beginning, AWK programs consist of a collection of patterns</span>
<span># and actions. You've already seen the BEGIN pattern. Other</span>
<span># patterns are used only if you're processing lines from files or standard</span>
<span># input.</span>
<span>#</span>
<span># When you pass arguments to AWK, they are treated as file names to process.</span>
<span># It will process them all, in order. Think of it like an implicit for loop,</span>
<span># iterating over the lines in these files. these patterns and actions are like</span>
<span># switch statements inside the loop. </span>

<span>/^fo+bar$/</span> <span>{</span>

    <span># This action will execute for every line that matches the regular</span>
    <span># expression, /^fo+bar$/, and will be skipped for any line that fails to</span>
    <span># match it. Let's just print the line:</span>

    <span>print</span><span>;</span>

    <span># Whoa, no argument! That's because print has a default argument: $0.</span>
    <span># $0 is the name of the current line being processed. It is created</span>
    <span># automatically for you.</span>

    <span># You can probably guess there are other $ variables. Every line is</span>
    <span># implicitly split before every action is called, much like the shell</span>
    <span># does. And, like the shell, each field can be access with a dollar sign</span>

    <span># This will print the second and fourth fields in the line</span>
    <span>print</span> <span>$</span><span>2</span><span>,</span> <span>$</span><span>4</span><span>;</span>

    <span># AWK automatically defines many other variables to help you inspect and</span>
    <span># process each line. The most important one is NF</span>

    <span># Prints the number of fields on this line</span>
    <span>print</span> <span>NF</span><span>;</span>

    <span># Print the last field on this line</span>
    <span>print</span> <span>$</span><span>NF</span><span>;</span>
<span>}</span>

<span># Every pattern is actually a true/false test. The regular expression in the</span>
<span># last pattern is also a true/false test, but part of it was hidden. If you</span>
<span># don't give it a string to test, it will assume $0, the line that it's</span>
<span># currently processing. Thus, the complete version of it is this:</span>

<span>$</span><span>0</span> <span>~</span> <span>/^fo+bar$/</span> <span>{</span>
    <span>print</span> <span>"Equivalent to the last pattern"</span><span>;</span>
<span>}</span>

<span>a</span> <span>&gt;</span> <span>0</span> <span>{</span>
    <span># This will execute once for each line, as long as a is positive</span>
<span>}</span>

<span># You get the idea. Processing text files, reading in a line at a time, and</span>
<span># doing something with it, particularly splitting on a delimiter, is so common</span>
<span># in UNIX that AWK is a scripting language that does all of it for you, without</span>
<span># you needing to ask. All you have to do is write the patterns and actions</span>
<span># based on what you expect of the input, and what you want to do with it.</span>

<span># Here's a quick example of a simple script, the sort of thing AWK is perfect</span>
<span># for. It will read a name from standard input and then will print the average</span>
<span># age of everyone with that first name. Let's say you supply as an argument the</span>
<span># name of a this data file:</span>
<span>#</span>
<span># Bob Jones 32</span>
<span># Jane Doe 22</span>
<span># Steve Stevens 83</span>
<span># Bob Smith 29</span>
<span># Bob Barker 72</span>
<span>#</span>
<span># Here's the script:</span>

<span>BEGIN</span> <span>{</span>

    <span># First, ask the user for the name</span>
    <span>print</span> <span>"What name would you like the average age for?"</span><span>;</span>

    <span># Get a line from standard input, not from files on the command line</span>
    <span>getline</span> <span>name</span> <span>&lt;</span> <span>"/dev/stdin"</span><span>;</span>
<span>}</span>

<span># Now, match every line whose first field is the given name</span>
<span>$</span><span>1</span> <span>==</span> <span>name</span> <span>{</span>

    <span># Inside here, we have access to a number of useful variables, already</span>
    <span># pre-loaded for us:</span>
    <span># $0 is the entire line</span>
    <span># $3 is the third field, the age, which is what we're interested in here</span>
    <span># NF is the number of fields, which should be 3</span>
    <span># NR is the number of records (lines) seen so far</span>
    <span># FILENAME is the name of the file being processed</span>
    <span># FS is the field separator being used, which is " " here</span>
    <span># ...etc. There are plenty more, documented in the man page.</span>

    <span># Keep track of a running total and how many lines matched</span>
    <span>sum</span> <span>+=</span> <span>$</span><span>3</span><span>;</span>
    <span>nlines</span><span>++</span><span>;</span>
<span>}</span>

<span># Another special pattern is called END. It will run after processing all the</span>
<span># text files. Unlike BEGIN, it will only run if you've given it input to</span>
<span># process. It will run after all the files have been read and processed</span>
<span># according to the rules and actions you've provided. The purpose of it is</span>
<span># usually to output some kind of final report, or do something with the</span>
<span># aggregate of the data you've accumulated over the course of the script.</span>

<span>END</span> <span>{</span>
    <span>if</span> <span>(</span><span>nlines</span><span>)</span>
        <span>print</span> <span>"The average age for "</span> <span>name</span> <span>" is "</span> <span>sum</span> <span>/</span> <span>nlines</span><span>;</span>
<span>}</span>
</pre><p><span>&nbsp;</span></p></div>]]></description>
	<dc:creator>BioJoker</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43112/calling-variants-in-non-diploid-systems</guid>
	<pubDate>Sat, 26 Jun 2021 15:37:49 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43112/calling-variants-in-non-diploid-systems</link>
	<title><![CDATA[Calling variants in non-diploid systems]]></title>
	<description><![CDATA[<p><span>The main challenge associated with non-diploid variant calling is the difficulty in distinguishing between the sequencing noise (abundant in all NGS platforms) and true low frequency variants. Some of the early attempts to do this well have been accomplished on human mitochondrial&nbsp;</span><span>DNA</span><span>&nbsp;although the same approaches will work equally good on viral and bacterial genomes (</span><a href="https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html#Rebolledo-Jaramillo2014">Rebolledo-Jaramillo&nbsp;<em>et al.</em>&nbsp;2014</a><span>,&nbsp;</span><a href="https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html#Li2015">Li&nbsp;<em>et al.</em>&nbsp;2015</a><span>).</span></p><p>Address of the bookmark: <a href="https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html" rel="nofollow">https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/1161/genomics-for-bioinformatician</guid>
	<pubDate>Sat, 20 Jul 2013 07:03:00 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/1161/genomics-for-bioinformatician</link>
	<title><![CDATA[Genomics for Bioinformatician]]></title>
	<description><![CDATA[<p>Genomics is the study of the genomes of organisms. The field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the genome. In contrast, the investigation of the roles and functions of single genes is a primary focus of molecular biology or genetics and is a common topic of modern medical and biological research. Research of single genes does not fall into the definition of genomics unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.<br /><br />Genomics was established by Fred Sanger when he first sequenced the complete genomes of a virus and a mitochondrion. His group established techniques of sequencing, genome mapping, data storage, and bioinformatic analyses in the 1970-1980s. A major branch of genomics is still concerned with sequencing the genomes of various organisms, but the knowledge of full genomes has created the possibility for the field of functional genomics, mainly concerned with patterns of gene expression during various conditions. The most important tools here are microarrays and bioinformatics. Study of the full set of proteins in a cell type or tissue, and the changes during various conditions, is called proteomics. A related concept is materiomics, which is defined as the study of the material properties of biological materials (e.g. hierarchical protein structures and materials, mineralized biological tissues, etc.) and their effect on the macroscopic function and failure in their biological context, linking processes, structure and properties at multiple scales through a materials science approach. The actual term 'genomics' is thought to have been coined by Dr. Tom Roderick, a geneticist at the Jackson Laboratory (Bar Harbor, ME) over beer at a meeting held in Maryland on the mapping of the human genome in 1986.<br /><br />The outcome of almost two years of intense discussions with literally hundreds of scientists and members of the public, has three major areas of focus: Genomics to Biology, Genomics to Health, and Genomics to Society.<br /><br /><strong><em>Genomics to Biology:</em></strong>&nbsp;<br />The human genome sequence provides foundational information that now will allow development of a comprehensive catalog of all of the genome's components, determination of the function of all human genes, and deciphering of how genes and proteins work together in pathways and networks.<br /><br /><strong><em>Genomics to Health:<br /></em></strong>Completion of the human genome sequence offers a unique opportunity to understand the role of genetic factors in health and disease, and to apply that understanding rapidly to prevention, diagnosis, and treatment. This opportunity will be realized through such genomics-based approaches as identification of genes and pathways and determining how they interact with environmental factors in health and disease, more precise prediction of disease susceptibility and drug response, early detection of illness, and development of entirely new therapeutic approaches.<br /><br /><strong><em>Genomics to Society:</em>&nbsp;<br /></strong>Just as the HGP has spawned new areas of research in basic biology and in health, it has created new opportunities in exploring the ethical, legal, and social implications (ELSI) of such work. These include defining policy options regarding the use of genomic information in both medical and non-medical settings and analysis of the impact of genomics on such concepts as race, ethnicity, kinship, individual and group identity, health, disease, and "normality" for traits and behaviors.<br /><br />This vision for the future of genomics is not just about the NHGRI. It encompasses the whole field of genomics, including the work of all the other Institutes and Centers at the NIH and of a number of other federal agencies. All of the NIH Institutes are already taking full advantage of the sequence and will apply its data to the better understanding of both rare and common diseases, almost all of which have a genetic component. A recent example of the way that the HGP and the knowledge and new technologies it has spawned are already facilitating science is the extremely rapid sequencing by groups in Canada and at the Centers for Disease Control and Prevention (CDC) in Atlanta of the genome of the virus that causes Severe Acute Respiratory Syndrome (SARS). The sequencing of the SARS virus genome provides insight into this new and deadly disease at a speed never before possible in science. In turn, this should lead to the rapid development of diagnostic tests and, in time, vaccines and effective treatments.<br /><br /><strong>Links for the addition material available on Net</strong></p><p><a href="http://pevsnerlab.kennedykrieger.org/bioinformatics/bioinf10_genomes.htm">Genomes and genomics:</a></p><p><a href="http://www.123genomics.com/learning.html">Bioinformatics and Genomics:</a></p><p><a href="http://www.ebi.ac.uk/pdbe/docs/roadshow_tutorial/strgenomics/tutorial.html">Structural genomics tutorial:</a></p><p><a href="http://www.hgu.mrc.ac.uk/Users/Philippe.Gautier/tutorial/index.html">Comparative Genomics Tutorial:</a></p><p><a href="http://www.scfbio-iitd.res.in/tutorial/genomics.html">GENOME TUTORIAL:</a></p><p><a href="http://genomebiology.com/content/pdf/gb-2001-3-1-reviews2001.pdf">Tools and resources for identifying protein families, domains and motifs</a></p><p><a href="http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/tools.shtml">Bioinformatics Tools</a><a href="http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/tools.shtml">&nbsp;<br />Tips, Tutorials, and Terminology for Using Selected Resources in Genome Database Guide:</a></p><p><a href="http://www.doe-mbi.ucla.edu/Reprints/R31%20Strong%20A%20Web-based%20Comparative%20Genomics%20tutorial%20Microbiology%20Eduction%202004.pdf">A Web-Based Comparative Genomics Tutorial for Investigating Microbial Genomes:</a></p><p><a href="http://www.genome.gov/27530225">Free Online Tutorials Teach Anyone How to Use Genome Databases:</a></p><p><a href="http://mkweb.bcgsc.ca/circos/?tutorials">Circos to create concise, explanatory, unique and print-ready visualizations of your data:</a></p><p><a href="http://www.igd.cornell.edu/Comparative%20Genomics/Comparative%20Genomics%20Proj.html">Genomics and Comparative Genomics</a><a href="http://www.igd.cornell.edu/Comparative%20Genomics/Comparative%20Genomics%20Proj.html">&nbsp;Learning Module:</a></p><p><a href="http://psb.stanford.edu/psb10/conference-materials/tutorials/compgen-notes.pdf">Computational Challenges in Comparative Genomics</a></p><p><a href="http://psb.stanford.edu/psb10/conference-materials/tutorials/compgen-notes.pdf">A Tutorial:</a></p><p><a href="http://gramene.agrinome.org/tutorials/modules_tutorial.pdf">A Comparative Genomics Resource for Grains</a>:</p><p><a href="http://www.plantcell.org/cgi/content/full/21/12/3718">PLAZA: A Comparative Genomics Resource to Study Gene and Genome Evolution in Plants:</a></p><p><a href="http://en.wikipedia.org/wiki/VISTA_(comparative_genomics)">VISTA</a><a href="http://en.wikipedia.org/wiki/VISTA_(comparative_genomics)">:</a></p><p>Software for Genomics</p><ol>
<li><strong>Artemis</strong>&nbsp;Artemis is a free genome viewer and annotation tool that allows visualization of sequence features and the results of analyses within the context of the sequence, and its six-frame translation.</li>
<li><strong>Chromas&nbsp;</strong>It will display and prints chromatogram files from ABI automated DNA sequencers, and Staden SCF files which the analysis programs for ALF, Li-Cor and Visible Genetics OpenGene sequencers can create.</li>
<li><strong>Glimmer</strong>&nbsp;A system for finding genes in microbial DNA, especially the genomes of bacteria and archaea.Glimmer (Gene Locator and Interpolated Markov Modeler) uses interpolated Markov models (IMMs) to identify the coding regions and distinguish them from noncoding DN</li>
<li><strong>Glimmer</strong>&nbsp;HMM&nbsp;A fast and accurate gene finder based on a GHMM architecture, developed specifically for eukaryotes. It incorporates splice site models adapted from the GeneSplicer program and uses interpolated Markov models for evaluating the coding regions.</li>
<li><strong>Glimmer</strong>&nbsp;M&nbsp;A gene finder derived from Glimmer, but developed specifically for eukaryotes. It is based on a dynamic programming algorithm that considers all combinations of possible exons for inclusion in a gene model and chooses the best of these combinations. The d</li>
<li><strong>MUMmer</strong>&nbsp;MUMmer is a system for rapidly aligning entire genomes, whether in complete or draft form.</li>
<li><strong>pDRAW</strong>&nbsp;pDRAW32 is being developed as a free time hobby project. It is far from finished, but as it has reached a point where it could be helpful for many labs, it is now available to the scientific community.</li>
<li><strong>Sequin</strong>&nbsp;Sequin is a stand-alone software tool developed by the NCBI for submitting and updating entries to the GenBank, EMBL, or DDBJ sequence databases. It is capable of handling simple submissions that contain a single short mRNA sequence, and complex submissio</li>
<li><strong>Staden&nbsp;</strong>The Staden Package consists of a series of tools for DNA sequence preparation (pregap4), assembly (gap4), editing (gap4) and DNA/protein sequence analysis (spin).</li>
</ol><p>For more software @&nbsp;<a href="http://bioinformaticsonline.com/bookmarks/view/926/list-of-popular-bioinformatics-softwaretools">http://bioinformaticsonline.com/bookmarks/view/926/list-of-popular-bioinformatics-softwaretools</a></p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/3868/next-generation-sequencing-ngs-tutorials</guid>
	<pubDate>Sat, 24 Aug 2013 06:01:37 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/3868/next-generation-sequencing-ngs-tutorials</link>
	<title><![CDATA[Next Generation Sequencing (NGS) Tutorials]]></title>
	<description><![CDATA[<p>Institute of computational biomedicine, Cornell University provide an NGS workshop tutorial at&nbsp;<a href="http://chagall.med.cornell.edu/NGScourse/">http://chagall.med.cornell.edu/NGScourse/</a>&nbsp;</p>
<p>You can also add your favourite NGS educational material, or workshop tutorial by commenting on this bookmarks for user benefit.&nbsp;</p>
<p>Understanding the basics of genome sequencing:</p>
<p>Tutorial by Luke Jostins.</p>
<p>http://www.genetic-inference.co.uk/blog/2009/04/basics-sequencing-dna-part-1/</p>
<p>http://www.genetic-inference.co.uk/blog/2009/08/basics-sequencing-dna-part-2/</p>
<p>A window into third-generation sequencing</p>
<p>http://hmg.oxfordjournals.org/content/19/R2/R227.full.pdf</p>
<p>==============================================</p>
<p>NGS data analysis pipelines</p>
<ul>
<li><strong>Detecting and annotating genetic variations using the HugeSeq pipeline</strong>&nbsp; DOI: <a href="http://dx.doi.org/10.1038/nbt.2134">10.1038/nbt.2134</a></li>
<li><strong> NARWHAL, a primary analysis pipeline for NGS data</strong> <a href="http://bioinformatics.oxfordjournals.org/cgi/content/abstract/28/2/284?etoc">http://bioinformatics.oxfordjournals.org/cgi/content/abstract/28/2/284?etoc</a></li>
<li><strong>RseqFlow: Workflows for RNA-Seq data analysis</strong>&nbsp; DOI: <a href="http://dx.doi.org/10.1093/bioinformatics/btr441">10.1093/bioinformatics/btr441</a></li>
<li><strong>ngs_backbone: a pipeline for read cleaning, mapping and SNP calling using Next Generation Sequence</strong>&nbsp;&nbsp;<a href="http://dx.doi.org/10.1186/1471-2164-12-285">10.1186/1471-2164-12-285</a></li>
<li><strong>A framework for variation discovery and genotyping using next-generation DNA sequencing data</strong>&nbsp; PubMed: <a href="http://www.ncbi.nlm.nih.gov/pubmed/21478889">21478889</a></li>
<li><strong>SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects</strong>&nbsp; DOI: <a href="http://dx.doi.org/10.1186/1471-2105-12-134">10.1186/1471-2105-12-134</a> Abstract: <a href="http://www.biomedcentral.com/1471-2105/12/134/abstract">http://www.biomedcentral.com/1471-2105/12/134/abstract</a></li>
<li><strong>WEP: a high-performance analysis pipeline for whole-exome data&nbsp;</strong>http://www.biomedcentral.com/1471-2105/14/S7/S11</li>
<li><strong>DDBJ read annotation pipeline: a cloud computing-based pipeline for high-throughput analysis of next-generation sequencing data.&nbsp;</strong>http://www.ncbi.nlm.nih.gov/pubmed/23657089</li>
<li><strong>GATK: a Toolkit for Genome Analysis&nbsp;</strong>http://www.broadinstitute.org/gatk/</li>
<li><strong>Metagenomics</strong>:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsmetagenomics/</li>
<li><strong>RNASeq</strong>:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsrnaseq/</li>
<li><strong>Bioinformatics and Seq courses</strong>:&nbsp;http://www.isb-sib.ch/training/training-activities-schedule/archive-2013.html</li>
<li><strong>Variant Detection (Model organism) Advanced tutorial</strong> https://docs.google.com/document/pub?id=1CuKkKylVDb03tnN7RSWl5EUzleetn0ctjmvaidPKLxM</li>
<li><strong>Variant Detection Introductory tutorial</strong> https://docs.google.com/document/pub?id=1ZRzrjjOCvtAu3m-IKL-rbJ1f4On60dDL_IEwG7oejdI</li>
<li><strong>Microbial de novo Assembly for Illumina Data Introductory tutorial</strong> https://docs.google.com/document/pub?id=1N3AB9ptISUu4zULqe1kXpVF0BDyGb5f5yzxWSJd_WNM</li>
<li><strong>RNAseq Differential Gene Expression Introductory tutorial</strong> https://docs.google.com/document/pub?id=1KbTiBHtvHLfPRZ39AY3uriazrINA8TJzgjjwn1zPP7Y</li>
</ul>
<blockquote>
<p>" Please add your favourite NGS link below in comment section for the benefit of bioinformatics community ".&nbsp;</p>
</blockquote><p>Address of the bookmark: <a href="http://chagall.med.cornell.edu/NGScourse/" rel="nofollow">http://chagall.med.cornell.edu/NGScourse/</a></p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/10925/a-brief-bioinformatics-tutorial</guid>
	<pubDate>Wed, 21 May 2014 12:50:09 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/10925/a-brief-bioinformatics-tutorial</link>
	<title><![CDATA[A Brief Bioinformatics Tutorial]]></title>
	<description><![CDATA[<p>This is about how to use a computer to find what is known about a gene of interest and also how to get new insights about it.</p>
<p>The tutorial is divided in three main parts:</p>
<ul>
<li>In the <strong>Sequence </strong>part, you will see how to look efficiently for a particular protein sequence, how to blast it against the database of your choice to find homologues, how to perform a multiple alignment of the homologues you've selected and how to edit this alignment.</li>
<li>The <strong>Structure </strong>part is about molecular visualization, homology modeling and structural domain prediction.</li>
<li>In the <strong>Function </strong>part, you will be introduced to you 3 useful servers to investigate the function of a protein. i.e. finding interactors, co-expressed genes, see a phylogenetic profile, easily access papers citing your gene etc ...</li>
</ul>
<p>During all the three parts, we will use the <em>S. cerevisiae </em>VPS36 protein as an example.</p><p>Address of the bookmark: <a href="http://www.mrc-lmb.cam.ac.uk/rlw/text/bioinfo_tuto/introduction.html" rel="nofollow">http://www.mrc-lmb.cam.ac.uk/rlw/text/bioinfo_tuto/introduction.html</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

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