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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/923?offset=190</link>
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	<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Here, the C in the reference genome has been replaced by a T in the variant.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/researchlabs/view/860/the-centre-for-bioinformatics-mcb-lab</guid>
  <pubDate>Sun, 14 Jul 2013 12:41:20 -0500</pubDate>
  <link></link>
  <title><![CDATA[The Centre for Bioinformatics (MCB) Lab]]></title>
  <description><![CDATA[
<p>The Centre for Bioinformatics (MCB) is a diverse collection of professors, postdoctoral fellows, and students, who share a common interest in Bioinformatics.</p>

<p>Research Area</p>

<p>We are interested in the development of the statistics and computational methods for the analysis of this data in breast cancer.<br />We have worked on probabilistic models for subcellular localization, protein-protein interactions, and problems related to chemical genomics.<br />We are interested in the development of bioinformatics/biostatistical methodology in the analysis of epigenetic/epigenomic data.<br />We are interested in integrative bioinformatics approaches to learn the gene, gene products, interactions, and regulatory mechanisms involved in mental retardation.</p>

<p>Link @ http://www.mcgill.ca/mcb/</p>
]]></description>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/872/jayaram-lab</guid>
  <pubDate>Sun, 14 Jul 2013 14:04:37 -0500</pubDate>
  <link></link>
  <title><![CDATA[Jayaram Lab]]></title>
  <description><![CDATA[
<p>Responsible (a) for developing Chemgenome, Bhageerath &amp; Sanjeevini methods &amp; softwares for genome annotation, protein tertiary structure prediction &amp; computer aided drug design respectively, (b) for setting up a multi-teraflop supercomputing facility for Bioinformatics &amp; Computational Biology at IIT Delhi, and (c) for making the hardware and software freely accessible at (www.scfbio-iitd.res.in) to the global scientific user community.</p>

<p>Faculty facilitator/Founder Director for two start-up companies (Leadinvent incubated at IIT, Delhi from 2006-2009 &amp; Novoinformatics, under incubation at IIT Delhi since 2011).</p>

<p>Research Interest <br />Genome Analysis, Protein Structure Prediction and Drug Design.</p>

<p>Link @ http://www.scfbio-iitd.res.in/</p>
]]></description>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/1215/livestock-functional-genomics-summer-school-lfg-2013</guid>
  <pubDate>Fri, 02 Aug 2013 09:57:37 -0500</pubDate>
  <link></link>
  <title><![CDATA[Livestock Functional Genomics Summer School (LFG 2013)]]></title>
  <description><![CDATA[
<p>*Livestock Functional Genomics Summer School - Call for applications*</p>

<p>1st Livestock Functional Genomics Summer School (LFG 2013).</p>

<p>This School was designed for graduate students and early-stage researchers with interest in livestock genomics, who are engaged in projects that require knowledge in the field of computational biology.</p>

<p>Sixty selected participants will spend 13 days receiving theoretical and practical training in genomic data handling from internationally renowned experts.</p>

<p>After the course, the participant should understand the basis and the context of livestock big molecular data, and be able to manipulate high density genotypes, whole genome sequences and transcriptome data.</p>

<p>The Summer School will be held in Araçatuba-SP Brazil, from the 13th to the 21st of September 2013.</p>

<p>All accepted participants will have *expenses fully covered (air ticket, hotel and meals)*, including a free pass to the 5th International Symposium on Animal Functional Genomics http://www.isafg2013.org.br </p>

<p>Applicants will be selected based on their résumés. Application date is due by August 10th.  Results will be announced in August 12th.  </p>

<p>Please consult website: http://www.sciencesatellite.org.br/sschool</p>
]]></description>
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<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/1514/list-of-pharmacogenomics-companies-worldwide</guid>
	<pubDate>Fri, 09 Aug 2013 13:24:47 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/1514/list-of-pharmacogenomics-companies-worldwide</link>
	<title><![CDATA[List of pharmacogenomics companies worldwide]]></title>
	<description><![CDATA[<div><div><p>Pharmacogenomics are the most promising area of research. Here is the list of some Pharmacogenomics companies worldwide. Feel free to add more pharmacogenomics companies if not mentioned in here.</p><p>Great Pharmacogenomics companies <br /><a href="http://www.aruplab.com/">www.aruplab.com</a> <br /><a href="http://www.clarientinc.com/">www.clarientinc.com</a> <br /><a href="http://www.cns-hts.com/">www.cns-hts.com</a> <br /><a href="http://www.dnanow.com/">www.dnanow.com</a> <br /><a href="http://www.dnavision.be/">www.dnavision.be</a> <br /><a href="http://www.dnavision.com/">www.dnavision.com</a> <br /><a href="http://www.dxsdiagnostics.com/">www.dxsdiagnostics.com</a> <br /><a href="http://www.entrogen.com/">www.entrogen.com</a> <br /><a href="http://www.exiqon.com/">www.exiqon.com</a> <br /><a href="http://www.gene.com/">www.gene.com</a> <br /><a href="http://www.genomichealth.com/">www.genomichealth.com</a> <br /><a href="http://www.genoptix.com/">www.genoptix.com</a> <br /><a href="http://www.genpathdiagnostics.com/">www.genpathdiagnostics.com</a> <br /><a href="http://www.gentris.com/">www.gentris.com</a> <br /><a href="http://www.immunicon.com/">www.immunicon.com</a> <br /><a href="http://www.ingenuity.com/">www.ingenuity.com</a> <br /><a href="http://www.lab21.com/">www.lab21.com</a> <br /><a href="http://www.labcorp.com/">www.labcorp.com</a> <br /><a href="http://www.lion-ag.de/">www.lion-ag.de</a> <br /><a href="http://www.lynxgen.com/">www.lynxgen.com</a> <br /><a href="http://www.mayoclinic.com/">www.mayoclinic.com</a> <br /><a href="http://www.mesoscale.com/">www.mesoscale.com</a> <br /><a href="http://www.microcide.com/">www.microcide.com</a> <br /><a href="http://www.mitokor.com/">www.mitokor.com </a> <br /><a href="http://www.monarchlifesciences.com/">www.monarchlifesciences.com</a> <br /><a href="http://www.mplnet.com/">www.mplnet.com</a> <br /><a href="http://www.orchidbio.com/">www.orchidbio.com</a> <br /><a href="http://www.pebio.com/">www.pebio.com</a> <br /><a href="http://www.phenomenome.com/">www.phenomenome.com</a> <br /><a href="http://www.phenopath.com/">www.phenopath.com</a> <br /><a href="http://www.ppgx.com/">www.ppgx.com</a> <br /><a href="http://www.prometheuslabs.com/">www.prometheuslabs.com</a> <br /><a href="http://www.protogene.com/">www.protogene.com</a> <br /><a href="http://www.questdiagnostics.com/">www.questdiagnostics.com</a> <br /><a href="http://www.rigelinc.com/">www.rigelinc.com</a> <br /><a href="http://www.rii.com/">www.rii.com</a> <br /><a href="http://www.saladax.com/">www.saladax.com</a> <br /><a href="http://www.tmdlab.com/">www.tmdlab.com</a> <br /><a href="http://www.transgenomic.com/">www.transgenomic.com</a> <br /><a href="http://www.twt.com/">www.twt.com</a> <br /><a href="http://www.uslabs.net/">www.uslabs.net</a> <br /><a href="http://www.variagenics.com/">www.variagenics.com</a> <br /><br />Great Equipment Companies for Genomics <br /><a href="http://www.affymetrix.com/">www.affymetrix.com</a> <br /><a href="http://www.illumina.com/">www.illumina.com</a> <br /><a href="http://www.iontorrent.com/">www.iontorrent.com</a> <br /><a href="http://www.sequenom.com/">www.sequenom.com</a> <br /><a href="http://www.appliedbiosystems.com/">www.appliedbiosystems.com</a> <br /><a href="http://www.454.com/">www.454.com</a> <br /><a href="http://www.appliedbiosystems.com/">www.appliedbiosystems.com</a><br /><br />Genomics in India <br /><a href="http://www.ganitlabs.in/">www.ganitlabs.in</a> <br /><a href="http://www.sandor.co.in/">www.sandor.co.in</a> <br /><a href="http://www.igib.res.in/">www.igib.res.in</a> <br /><a href="http://www.genotypic.co.in/">www.genotypic.co.in</a> <br /><a href="http://www.ocimumbio.com/">www.ocimumbio.com</a> <br /><a href="http://www.abcgenomics.com/">www.abcgenomics.com</a> <br /><a href="http://www.xcelrisgenomics.com/">www.xcelrisgenomics.com</a> <br /><a href="http://www.ayugen.com/">www.ayugen.com</a> <br /><a href="http://www.geneombiotech.com/">www.geneombiotech.com</a> <br /><br /> Large Global Whole Genome Companies <br /><a href="http://www.decode.com/">www.decode.com</a> <br /><a href="http://www.23andme.com/">www.23andme.com</a> <br /><a href="http://www.navigenics.com/">www.navigenics.com</a><br />www.pathway.com<br /><br /> Global companies offering genomics services <br /><a href="http://www.asuragen.com/">www.asuragen.com</a> <br /><a href="http://www.baseclear.com/">www.baseclear.com</a> <br /><a href="http://www.agtcenter.com/">www.agtcenter.com</a> <br /><a href="http://www.ambrygen.com/">www.ambrygen.com</a> <br /><a href="http://www.arosab.com/">www.arosab.com</a> <br /><a href="http://www.agrf.org.au/">www.agrf.org.au</a> <br /><a href="http://www.beckmangenomics.com/">www.beckmangenomics.com</a> <br /><a href="http://www.genomics.cn/">www.genomics.cn</a> <br /><a href="http://www.bsf.a-star.edu.sg/">www.bsf.a-star.edu.sg</a> <br /><a href="http://www.cbm.fvg.it/">www.cbm.fvg.it</a> <br /><a href="http://www.cincinnatichildrens.org/">www.cincinnatichildrens.org</a> <br /><a href="http://www.cofactorgenomics.com/">www.cofactorgenomics.com</a> <br /><a href="http://www.covance.com/">www.covance.com</a> <br /><a href="http://www.dnalandmarks.ca/">www.dnalandmarks.ca</a> <br /><a href="http://www.dnavision.com/">www.dnavision.com</a> <br /><a href="http://www.expressionanalysis.com/">www.expressionanalysis.com</a> <br /><a href="http://www.fasteris.com/">www.fasteris.com</a> <br /><a href="http://www.gatc-biotech.com/">www.gatc-biotech.com</a> <br /><a href="http://www.genesdiffusion.com/">www.genesdiffusion.com</a> <br /><a href="http://www.geneseek.com/">www.geneseek.com</a> <br /><a href="http://www.geneticvisions.com/">www.geneticvisions.com</a> <br /><a href="http://www.geneworks.com.au/">www.geneworks.com.au</a> <br /><a href="http://www.genizon.com/">www.genizon.com</a> <br /><a href="http://www.genoskan.dk/uk">www.genoskan.dk/uk</a> <br /><a href="http://www.gpbio.jp/">www.gpbio.jp</a> <br /><a href="http://www.igatechnology.com/">www.igatechnology.com</a> <br /><a href="http://www.igenixinc.com/">www.igenixinc.com</a> <br /><a href="http://www.auxologico.it/">www.auxologico.it</a> <br /><a href="http://www.lifeandbrain.com/">www.lifeandbrain.com</a> <br /><a href="http://www.macrogen.co.kr/eng">www.macrogen.co.kr/eng</a> <br /><a href="http://www.gqinnovationcenter.com/">www.gqinnovationcenter.com</a> <br /><a href="http://www.mftservices.de/">www.mftservices.de</a> <br /><a href="http://www.ncgr.org/">www.ncgr.org</a> <br /><a href="http://www.ramaciotti.unsw.edu.au/">www.ramaciotti.unsw.edu.au</a> <br /><a href="http://www.rikengenesis.jp/">www.rikengenesis.jp</a> <br /><a href="http://www.sabiosciences.com/">www.SABiosciences.com</a> <br /><a href="http://www.sequensysbio.com/">www.sequensysbio.com</a> <br /><a href="http://www.servicexs.com/">www.servicexs.com</a> <br /><a href="http://www.snp-genetics.com/">www.snp-genetics.com</a> <br /><a href="http://www.takara-bio.com/">www.takara-bio.com</a> <br /><a href="http://www.gen-probe.com/">www.gen-probe.com</a> <br /><a href="http://www.traitgenetics.com/">www.traitgenetics.com</a></p></div></div>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/1720/postdoctoral-associate-bioinformatics-at-duke-university-medical-center</guid>
  <pubDate>Sat, 10 Aug 2013 18:38:38 -0500</pubDate>
  <link></link>
  <title><![CDATA[Postdoctoral Associate - Bioinformatics  at Duke University Medical Center]]></title>
  <description><![CDATA[
<p>The Department of Biostatistics and Bioinformatics at Duke University Medical Center is seeking a Postdoctoral Associate for a one year appointment to work on several high-dimensional research projects. The specific goals of the project are to identify genes or molecular markers that are predictive of clinical outcomes in renal and prostate cancer.</p>

<p>Candidates must have: a PhD degree in statistics, biostatistics or bioinformatics, extensive experience in analyzing high-dimensional data (microarray, SNP, CNVs) and of validation approaches. In addition, experience in penalized regression methods, data base manipulation; and strong programming skills in order to conduct Monte Carlo studies and applications (R). Candidate must have excellent communication skills (verbal, written and presentation), a strong proficiency in Linux system.</p>

<p>This position is available immediately and will be filled as soon as possible. Appointment could be extended beyond the first year based on additional funding.</p>

<p>For more information about the Department of Biostatistics and Bioinformatics, please visit our website: http://www.biostat.duke.edu.</p>

<p>For more info: http://biostat.duke.edu/sites/biostat.duke.edu/files/Halabi%20-%20Postdoc%20Job%20Posting%202013%20updated.pdf</p>

<p>Duke University is an Equal Opportunity/Affirmative Action Employer.</p>
]]></description>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/researchlabs/view/6458/bigre-lab</guid>
  <pubDate>Sun, 17 Nov 2013 10:35:49 -0600</pubDate>
  <link></link>
  <title><![CDATA[BIGRE Lab]]></title>
  <description><![CDATA[
<p>The Laboratoire de Bioinformatique des Génomes et des Réseaux (Genome and Network Bioinformatics) is specialized in the conception, implementation, evaluation and application of bioinformatics approaches for the analysis of genome, transcriptome, proteome and metabolism.<br />Our main activities include</p>

<p>Analysis of regulatory sequences (RSAT project)<br />Classification and analysis of mobile genetic elements (ACLAME project).<br />Analysis of molecular interaction networks (NeAT project)<br />Inference of metabolic pathways from genomic and post-genomic data <br />(metabolic pathfinding, see also metabolic pathfinding in NeAT)<br />Critical assesment of protein interactions (CAPRI)</p>

<p>Lab Page http://www.bigre.ulb.ac.be/</p>
]]></description>
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