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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/22454?offset=140</link>
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	<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Here, the C in the reference genome has been replaced by a T in the variant.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/bookmarks/view/34699/biological-file-format-tutorial</guid>
	<pubDate>Sun, 17 Dec 2017 18:13:03 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34699/biological-file-format-tutorial</link>
	<title><![CDATA[Biological file format tutorial]]></title>
	<description><![CDATA[<p>This section explains some of the commonly used file formats in bioinformatics. The information provided here is basic and designed to help users to distinguish the difference between different formats. Please refer user manual or other information resources on web for more details.</p>
<ol>
<li><a href="https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/#fileformats_fasta">FASTA</a></li>
<li><a href="https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/#fileformats_fastq">FASTQ</a></li>
<li><a href="https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/#fileformats_sam">SAM</a></li>
<li><a href="https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/#fileformats_bam">BAM</a></li>
<li><a href="https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/#fileformats_vcf">VCF</a></li>
<li><a href="https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/#fileformats_gff">GFF</a></li>
<li><a href="https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/#fileformats_gtf">GTF</a></li>
</ol><p>Address of the bookmark: <a href="https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/" rel="nofollow">https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40489/machine-learning-training-and-courses-in-bioinformatics</guid>
	<pubDate>Tue, 31 Dec 2019 19:33:07 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40489/machine-learning-training-and-courses-in-bioinformatics</link>
	<title><![CDATA[Machine learning training and courses in bioinformatics !]]></title>
	<description><![CDATA[<p>Machine learning techniques have been successful in analyzing biological data because of their capabilities in handling randomness and uncertainty of data noise and in generalization. In this class, we will learn basics about probabilistic models and machine learning techniques. We will focus on probabilistic models (Markov models, Hidden Markov models, and Bayesian networks) for biological sequence analysis and systems biology. Other machine learning techniques, such as Naive bayes, neural networks and SVMs will only be covered briefly.</p>
<p>More at&nbsp;http://homes.sice.indiana.edu/yye/lab/teaching/spring2017-I529/</p>
<p>More tutorial at&nbsp;</p>
<p><a href="http://calla.rnet.missouri.edu/cheng_courses/mlbioinfo/mlbioinfo.htm">http://calla.rnet.missouri.edu/cheng_courses/mlbioinfo/mlbioinfo.htm</a></p>
<p><a href="http://www.raetschlab.org/lectures/MLBioinformatics">http://www.raetschlab.org/lectures/MLBioinformatics</a></p>
<p><a href="http://www.raetschlab.org/lectures/bertinoro08">http://www.raetschlab.org/lectures/bertinoro08</a></p>
<p>Book at&nbsp;</p>
<p><a href="https://personal.utdallas.edu/~pradiptaray/teaching/7_deep_learning_bioinfo.pdf">https://personal.utdallas.edu/~pradiptaray/teaching/7_deep_learning_bioinfo.pdf</a></p><p>Address of the bookmark: <a href="http://homes.sice.indiana.edu/yye/lab/teaching/spring2017-I529/" rel="nofollow">http://homes.sice.indiana.edu/yye/lab/teaching/spring2017-I529/</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43863/snakemake-tutorials</guid>
	<pubDate>Mon, 09 May 2022 05:20:41 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43863/snakemake-tutorials</link>
	<title><![CDATA[Snakemake Tutorials !]]></title>
	<description><![CDATA[<p>A lesson introducing the Snakemake workflow system for bioinformatics analysis.</p>
<blockquote>
<h2 id="prerequisites">Prerequisites<a href="https://carpentries-incubator.github.io/snakemake-novice-bioinformatics/index.html#prerequisites"></a></h2>
<p>This is an intermediate lesson and assumes learners have already done some bioinformatics:</p>
<ul>
<li>Familiarity with the BASH command shell, including concepts like pipes, variables and loops.</li>
<li>Knowledge of bioinformatics fundamentals like the FASTQ file format and transcriptome sequencing, in order to understand the example workflow.</li>
</ul>
<p>No previous knowledge of Snakemake or workflow systems is required.</p>
<p>https://carpentries-incubator.github.io/snakemake-novice-bioinformatics/index.html</p>
</blockquote><p>Address of the bookmark: <a href="https://carpentries-incubator.github.io/snakemake-novice-bioinformatics/aio/index.html" rel="nofollow">https://carpentries-incubator.github.io/snakemake-novice-bioinformatics/aio/index.html</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43681/a-guide-to-machine-learning-for-biologists</guid>
	<pubDate>Tue, 28 Dec 2021 01:43:25 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43681/a-guide-to-machine-learning-for-biologists</link>
	<title><![CDATA[A guide to machine learning for biologists]]></title>
	<description><![CDATA[<p>Because of the increasing size and inherent complexity of biological data, there has been an increase in the application of machine learning in biology to create useful and predictive models of the underlying biological processes. All machine learning techniques fit models to data; nevertheless, the specific methods are highly variable and can appear baffling at first glance. In this Review, we hope to give readers a moderate introduction to a few fundamental machine learning techniques, including the most recently created and frequently used deep neural network techniques. We illustrate how different algorithms may be adapted to specific types of biological data, as well as some best practises and points to consider when embarking on machine learning studies. There is also discussion of several upcoming directions in machine learning methodology.</p><p>Address of the bookmark: <a href="https://www.nature.com/articles/s41580-021-00407-0" rel="nofollow">https://www.nature.com/articles/s41580-021-00407-0</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/1178/r-package-for-visualising-go-enrichment</guid>
	<pubDate>Mon, 22 Jul 2013 12:25:09 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/1178/r-package-for-visualising-go-enrichment</link>
	<title><![CDATA[R package for visualising GO enrichment]]></title>
	<description><![CDATA[<p>An R package that visualizes the GO enrichment results as word clouds and arranges them together with figures of experimental data. This allows us to draw informative summary plots for analyses such as differential expression or clustering, where for each gene list we display its behaviour in the experiment alongside with its GO annotations.</p><p>Links @ http://raivokolde.github.io/GOsummaries/</p><p>Lab @ http://biit.cs.ut.ee/about/main</p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/4433/upcoming-r-webinar</guid>
	<pubDate>Wed, 11 Sep 2013 10:30:16 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/4433/upcoming-r-webinar</link>
	<title><![CDATA[Upcoming R Webinar]]></title>
	<description><![CDATA[<p>This webinar will describe an R based approach to considerably speed GWAS computation time on a notebook book computer.</p><p>More http://www.extension.org/pages/68354/upcoming-webinar:-fast-semi-parallel-linear-and-logistic-regression-for-genome-wide-association-studi#.UjCL9azyPqV</p><p>Register @ https://www1.gotomeeting.com/register/237810425</p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/11399/next-generation-sequencing-in-r-or-bioconductor-environment</guid>
	<pubDate>Mon, 02 Jun 2014 18:03:09 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/11399/next-generation-sequencing-in-r-or-bioconductor-environment</link>
	<title><![CDATA[Next generation sequencing in R or bioconductor environment]]></title>
	<description><![CDATA[<p>There are many R software and bioconductor packages for NGS data analysis, some of them are as follows</p><h3><a name="TOC-Biostrings" id="TOC-Biostrings"></a>Biostrings</h3><p>The Biostrings package from Bioconductor provides an advanced environment for efficient sequence management and analysis in R. It contains many speed and memory effective string containers, string matching algorithms, and other utilities, for fast manipulation of large sets of biological sequences. The objects and functions provided by Biostrings form the basis for many other sequence analysis packages. <a href="http://bioconductor.org/packages/release/bioc/html/Biostrings.html">Documentation</a></p><div><div style="text-align: left;"><div style="color: #000000;"><h4><a name="TOC-IRanges-Overview" id="TOC-IRanges-Overview"></a>IRanges Overview</h4><p>IRanges provides the low-level infrastructure and containers for handling sets of integer ranges within Bioconductor's BioC-Seq domain. Its classes and methods provide support for many more high-level packages like GenomicRanges, ShortRead, Rsamtools, etc. <a href="http://bioconductor.org/packages/release/bioc/html/IRanges.html">Documentation</a></p><div style="text-align: right;"><div style="text-align: left;"><h4><a name="TOC-GenomicRanges-Overview" id="TOC-GenomicRanges-Overview"></a>GenomicRanges Overview</h4><p>The <em>GenomicRanges</em> package serves as the foundation for representing genomic locations within the Bioconductor project. It is built upon the <em>IRanges</em> infrastructure and defines three major data containers - <em>GRanges, GRangesList</em> and <em>GappedAlignments</em> - which are supporting other important BioC-Seq packages including <em>ShortRead, Rsamtools, rtracklayer, GenomicFeatures</em> and <em>BSgenome</em>.&nbsp; Compared to the IRanges container, the GRanges/<em>GRangesList</em> classes are more flexible and extensible to store additional information about sequence ranges, such as chromosome identifiers (sequence space), strand information and annotation data. <a href="http://bioconductor.org/packages/release/bioc/html/GenomicRanges.html">Documentation</a></p></div></div></div></div><h3><a name="TOC-Motif-Discovery" id="TOC-Motif-Discovery"></a>Motif Discovery</h3><h4><a name="TOC-cosmo" id="TOC-cosmo"></a>cosmo</h4><p>The cosmo package allows to search a set of unaligned DNA sequences for a shared motif that may function as transcription factor binding site. The algorithm extends the popular motif discovery tool MEME (Bailey and Elkan, 1995) in that it allows the search to be supervised by specifying a set of constraints that the motif to be discovered must satisfy. <a href="http://bioconductor.org/packages/release/bioc/html/cosmo.html">Documentation</a></p></div><div>
<p><span></span><span></span></p>
<div style="color: #0000ff;"><h4><a name="TOC-BCRANK" id="TOC-BCRANK"></a>BCRANK</h4><p>BCRANK is a method that takes a ranked list of genomic regions as input and outputs short DNA sequences that are overrepresented in some part of the list. The algorithm was developed for detecting transcription factor (TF) binding sites in a large number of enriched regions from high-throughput ChIP-chip or ChIP-seq experiments, but it can be applied to any ranked list of DNA sequences. Documentation</p>
<p><a href="http://bioconductor.org/packages/release/bioc/html/BCRANK.html"></a></p>
<p>rGADEM: <a href="http://bioconductor.org/packages/devel/bioc/html/rGADEM.html">Documentation</a></p><p>MotIV: <a href="http://bioconductor.org/packages/devel/bioc/html/MotIV.html">Documentation</a></p></div><h3><a name="TOC-ShortRead" id="TOC-ShortRead"></a>ShortRead</h3><p>The ShortRead package provides input, quality control, filtering, parsing, and manipulation functionality for short read sequences produced by high throughput sequencing technologies. While support is provided for many sequencing technologies, this package is primairly focused on Solexa/Illumina reads. <a href="http://bioconductor.org/packages/release/bioc/html/ShortRead.html">Documentation</a></p><h3><a name="TOC-Rsamtools" id="TOC-Rsamtools"></a>Rsamtools</h3><p>Rsamtools provides functions for parsing and inspecting samtools BAM formatted binary alignment data. SAM/BAM is quickly becoming a universal standard alignment format, and is now supported by a wide variety of alignment tools. <a href="http://bioconductor.org/help/bioc-views/2.7/bioc/html/Rsamtools.html">Documentation</a></p>
<p><a href="http://samtools.sourceforge.net/">Samtools Website</a><br /> <a href="http://bio-bwa.sourceforge.net/">BWA (Burrows-Wheeler Alignment) Website</a><br /><span style="color: #0000ff;"></span></p>
<div style="color: #000000;">&nbsp;</div></div><div>
<p><span style="color: #000000;">Additional tools for SNP analysis:&nbsp;</span></p>
<p><a href="http://bioconductor.org/help/bioc-views/release/bioc/html/snpMatrix.html">snpMatrix</a></p><h3><a name="TOC-BSgenome" id="TOC-BSgenome"></a>BSgenome</h3><p>BSgenome provides an object oriented infrastructure for interacting with a Biostring based genome sequence. BSgenome packages exist for many common genomes, and can be created to represent custom genomes. See the "How to forge a BSgenome data package" Vignette for instructions to create a new BSgenome package if a prebuilt package does not exist for your organism. <a href="http://bioconductor.org/packages/release/bioc/html/BSgenome.html">Documentation</a></p><h3><a name="TOC-rtracklayer" id="TOC-rtracklayer"></a>rtracklayer</h3><p>rtracklayer provides an interface for exporting annotation feature data to various genome browsers and file formats (such as GFF). See the Small RNA Profiling exercise for an example of using rtracklayer to visualize alignment coverage. <a href="http://bioconductor.org/packages/release/bioc/html/rtracklayer.html">Documentation</a></p><h3><a name="TOC-biomaRt" id="TOC-biomaRt"></a>biomaRt</h3><p>The biomaRt package, provides an interface to a growing collection of databases implementing the BioMart software suite (http:// www.biomart.org). The package enables online retrieval of large amounts of data in a uniform way without the need to know the underlying database schemas. This data is retrieved automatically via the Internet, so it's recommended that you cache the data locally, or check versions if your code will be adversely affected by updates to these data. <a href="http://bioconductor.org/packages/release/bioc/html/biomaRt.html">Documentation</a></p><h3><a name="TOC-ChIP-Seq-Analysis-Packages" id="TOC-ChIP-Seq-Analysis-Packages"></a>ChIP-Seq Analysis Packages</h3><p>Bioconductor provides various packages for analyzing and visualizing ChIP-Seq data. Only a small selection of these packages is introduced here. Additional useful introductions to this topic are: <a href="http://www.bioconductor.org/workshops/2009/SeattleJan09/ChIP-seq/">BioC ChIP-seq Case Study</a> and BioC <a href="http://www.bioconductor.org/help/course-materials/2009/SeattleNov09/ChIP-seq/">ChIP-Seq</a>.</p><h4><a name="TOC-chipseq" id="TOC-chipseq"></a>chipseq</h4><p>The chipseq package combines a variety of HT-Seq packages to a pipeline for ChIP-Seq data analysis. <a href="http://bioconductor.org/packages/release/bioc/html/chipseq.html">Documentation</a></p><h4><a name="TOC-BayesPeak" id="TOC-BayesPeak"></a>BayesPeak</h4><p>BayesPeak is a peak calling package for identifying DNA binding sites of proteins in ChIP-Seq experiments. Its algorithm uses hidden Markov models (HMM) and Bayesian statistical methods. The following sample code introduces the identification of peaks with the BayesPeak package as well as the incorporation of read coverage information obtained by the chipseq package. <a href="http://bioconductor.org/packages/release/bioc/html/BayesPeak.html">Documentation</a> [ <a href="http://www.biomedcentral.com/1471-2105/10/299">Publication</a> ]</p><h4><a name="TOC-PICS" id="TOC-PICS"></a>PICS</h4><p>The PICS package applies probabilistic inference to aligned-read ChIP-Seq data in order to identify regions bound by transcription factors. PICS identifies enriched regions by modeling local concentrations of directional reads, and uses DNA fragment length prior information to discriminate closely adjacent binding events via a Bayesian hierarchical t-mixture model. The following sample code uses the test data set from the above BayesPeak package in order to compare the results from both methods by identifying their consensus peak set. <a href="http://www.bioconductor.org/packages/release/bioc/html/PICS.html">Documentation</a> [ <a href="http://www.hubmed.org/display.cgi?uids=20528864">Publication</a> ]</p><h4><a name="TOC-ChIPpeakAnno" id="TOC-ChIPpeakAnno"></a>ChIPpeakAnno</h4><p>The ChIPpeakAnno package provides. batch annotation of the peaks identified from either ChIP-seq or ChIP-chip experiments. It includes functions to retrieve the sequences around peaks, obtain enriched Gene Ontology (GO) terms, find the nearest gene, exon, miRNA or custom features such as most conserved elements and other transcription factor binding sites supplied by users. The package leverages the biomaRt, IRanges, Biostrings, BSgenome, GO.db, multtest and stat packages. <a href="http://bioconductor.org/packages/release/bioc/html/ChIPpeakAnno.html">Documentation</a></p><h4><a name="TOC-Additional-ChIP-Seq-Packages" id="TOC-Additional-ChIP-Seq-Packages"></a>Additional ChIP-Seq Packages</h4><p>DiffBind: <a href="http://www.bioconductor.org/packages/release/bioc/html/DiffBind.html">Documentation</a></p><p>MOSAICS: <a href="http://bioconductor.org/packages/devel/bioc/html/mosaics.html">Documentation</a></p><p>iSeq: <a href="http://bioconductor.org/packages/release/bioc/html/iSeq.html">Documentation</a></p><p>ChIPseqR: <a href="http://bioconductor.org/packages/release/bioc/html/ChIPseqR.html">Documentation</a></p><p>ChiPsim: <a href="http://bioconductor.org/packages/release/bioc/html/ChIPsim.html">Documentation</a></p><p>CSAR: <a href="http://www.bioconductor.org/packages/devel/bioc/html/CSAR.html">Documentation</a></p><p>ChIP-Seq Pipeline: <a href="http://www.bioconductor.org/packages/release/bioc/html/PICS.html">PICS</a>, rGADEM and MotIV (<a href="http://www.rglab.org/pics-and-bioconductor/">developer web site</a>)</p><p>SPP: <a href="http://compbio.med.harvard.edu/Supplements/ChIP-seq/">ChIP-seq processing pipeline</a></p><p><a href="http://compbio.med.harvard.edu/Supplements/ChIP-seq/tutorial.html">SPP Tutorial</a></p><p><a href="http://liulab.dfci.harvard.edu/MACS/index.html">MACS</a></p><p><a href="http://gmdd.shgmo.org/Computational-Biology/ChIP-Seq/download/SIPeS">SIPeS</a></p><h3><a name="TOC-RNA-Seq-Analysis" id="TOC-RNA-Seq-Analysis"></a>RNA-Seq Analysis</h3><h4><a name="TOC-Counting-Reads-that-Overlap-with-Annotation-Ranges-" id="TOC-Counting-Reads-that-Overlap-with-Annotation-Ranges-"></a>Counting Reads that Overlap with Annotation Ranges&nbsp;</h4><p>The GenomicRanges package provides support for importing into R short read alignment data in BAM format (via Rsamtools) and associating them with genomic feature ranges, such as exons or genes. This way one can quantify the number of reads aligning to annotated genomic regions. The package defines general purpose containers for storing genomic intervals as well as more specialized containers for storing alignments against a reference genome. The two main functions for read counting provided by this infrastructure are <span>countOverlaps <span style="color: #000000;"><span>and</span></span> summarizeOverlaps</span>. For their proper usage, it is important to read the corresponding <a href="http://www.bioconductor.org/packages/devel/bioc/vignettes/GenomicRanges/inst/doc/summarizeOverlaps.pdf">PDF manual</a>. <a href="http://bioconductor.org/packages/release/bioc/html/GenomicRanges.html">Documentation</a></p><h4><a name="TOC-Differential-Gene-Expression-Analysis-with-DESeq" id="TOC-Differential-Gene-Expression-Analysis-with-DESeq"></a>Differential Gene Expression Analysis with DESeq</h4><p>The DESeq package contains functions to call differentially expressed genes (DEGs) in count tables based on a model using the negative binomial distribution. It expects as input a data frame with the raw read counts per region/gene of interest (rows) for each test sample (columns).&nbsp; Such a count table can be imported into R or generated from BAM alignment files using the <span>countOverlaps</span> function as introduced above. <a href="http://www.bioconductor.org/packages/release/bioc/html/DESeq.html">Documentation</a></p><h4><a name="TOC-Differential-Gene-Expression-Analysis-with-edgeR" id="TOC-Differential-Gene-Expression-Analysis-with-edgeR"></a>Differential Gene Expression Analysis with edgeR</h4><p>The edgeR package uses empirical Bayes estimation and exact tests based on the negative binomial distribution to call differentially expressed genes (DEGs) in count data.&nbsp;</p>
<p><a href="http://www.bioconductor.org/packages/release/bioc/html/edgeR.html">Documentation</a></p>
<p><span style="color: #000000;">A variety of additional R packages are available for normalizing RNA-Seq read count data and identifying differentially expressed genes (DEG): <br /> </span></p><p><a href="http://bioconductor.org/packages/devel/bioc/html/easyRNASeq.html">easyRNASeq</a> (simplifies read counting per genome feature)</p><p><a href="http://www.bioconductor.org/packages/release/bioc/html/DEXSeq.html">DEXSeq</a> (Inference of differential exon usage);&nbsp;<a href="http://www.bioconductor.org/packages/release/data/experiment/html/parathyroidSE.html">parathyroidSE</a> explains how to generate exon read counts in R</p><p><a href="http://bioconductor.org/packages/release/bioc/html/DEGseq.html">DEGseq</a></p><p><a href="http://www.bioconductor.org/packages/release/bioc/html/baySeq.html">baySeq</a> (also see: <a href="http://www.bioconductor.org/packages/release/bioc/html/segmentSeq.html">segmentSeq</a>)</p><p><a href="http://bioconductor.org/packages/release/bioc/html/Genominator.html">Genominator</a> (<a href="http://www.hubmed.org/display.cgi?uids=20167110">Bullard et al. 2010</a>)</p><div style="text-align: right;"><div style="text-align: left;"><h4><a name="TOC-Detection-of-Alternative-Splice-Junctions" id="TOC-Detection-of-Alternative-Splice-Junctions"></a>Detection of Alternative Splice Junctions</h4>
<p><span style="color: #000000;">Another utility of RNA-Seq experiments is the analysis of splice junctions. The following software suggestions provide this utility:</span></p>
<p><a href="http://woldlab.caltech.edu/rnaseq/">ERANGE<br /> </a><a href="http://tophat.cbcb.umd.edu/">TopHat</a></p><p><a href="http://biogibbs.stanford.edu/%7Ekinfai/SpliceMap/">SpliceMap</a></p><p><a href="http://solidsoftwaretools.com/gf/project/splitseek/">SplitSeek</a></p><h3><a name="TOC-DNA-Methylation-Data-Analysis" id="TOC-DNA-Methylation-Data-Analysis"></a>DNA-Methylation Data Analysis</h3><div><ul>
<li><span style="font-size: 10pt;"><a href="http://www.bioconductor.org/help/course-materials/2012/BiocEurope2012/mattia_pelizzola_methylPipe.pdf">methylPipe</a></span></li>
<li><span style="font-size: 10pt;"><a href="http://www.bioconductor.org/packages/devel/bioc/html/bsseq.html">bsseq</a></span></li>
<li><a href="http://www.bioconductor.org/packages/devel/bioc/html/BiSeq.html">BiSeq</a></li>
<li>Much more under <a href="http://www.bioconductor.org/packages/devel/BiocViews.html#___DNAMethylation">BiocViews</a></li>
</ul></div></div></div><h3><a name="TOC-HT-Seq-Data-Visualization" id="TOC-HT-Seq-Data-Visualization"></a>HT-Seq Data Visualization</h3>
<p><a href="http://www.bioconductor.org/packages/release/bioc/html/ggbio.html">ggbio</a>: ggplot2 extension for genomics data (<a href="http://tengfei.github.com/ggbio/">online manual</a>) <a href="http://www.bioconductor.org/packages/devel/bioc/html/Gviz.html">Gviz</a>:&nbsp;Plotting data and annotation information along genomic coordinates <a href="http://bioconductor.org/packages/release/bioc/html/HilbertVis.html">HilbertVis</a>: Hilbert genome plots</p>
<p><a href="http://bioconductor.org/packages/release/bioc/html/GenomeGraphs.html">GenomeGraphs</a>: Plotting genomic information from Ensembl</p><p><a href="http://www.hubmed.org/display.cgi?uids=18507856">TileQC</a>: Flow Cell Quality Visualization</p><p><a href="http://bioconductor.org/packages/release/bioc/html/rtracklayer.html">rtracklayer</a>: R interface to genome browsers</p><p><a href="http://genoplotr.r-forge.r-project.org/">genoPlotR</a>: Plotting maps of genes and genomes</p><p><a href="http://bioconductor.org/packages/release/bioc/html/Genominator.html">Genominator</a>: Tools for storing, accessing, analyzing and visualizing genomic data.</p><p>&nbsp;</p><p>To install all packages</p><blockquote><p>source("http://bioconductor.org/biocLite.R")<br />biocLite()<br />biocLite(c("ShortRead", "Biostrings", "IRanges", "BSgenome", "rtracklayer", "biomaRt", "chipseq", "ChIPpeakAnno", "Rsamtools", "BayesPeak", "PICS", "GenomicRanges", "DESeq", "edgeR", "leeBamViews", "GenomicFeatures", "BSgenome.Celegans.UCSC.ce2"))</p></blockquote></div>]]></description>
	<dc:creator>John Parker</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/19272/translate2r</guid>
	<pubDate>Fri, 21 Nov 2014 01:16:06 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/19272/translate2r</link>
	<title><![CDATA[translate2R]]></title>
	<description><![CDATA[<p>After their presentation at the international &ldquo;user!&rdquo; conference, data analysis specialist <a href="http://www.eoda.de/en/" target="_blank">eoda</a> starts the public alpha testing of <a href="http://www.eoda.de/en/translate2R.html" target="_blank">translate2R</a>. With the start of alpha testing the innovative migration solution by the company hailing from Kassel discards the working title &ldquo;translateR&rdquo; and takes on the final product brand name &ldquo;translate2R&rdquo;. translate2R is a service for the automated translation of SPSS&reg; syntax to R code, therefore supporting data analysts with a quick and low-risk migration to R.</p><p>The manual translation of many, frequently rather complex SPSS scripts often presents itself as a tedious and error-prone task, and represents a rather large obstacle for many analysts and companies to migrate to a modern, open source data management and analysis tool like R. With translate2R this hurdle will be diminished substantially.</p><p>Find at https://service.eoda.de/translater/?lang=en</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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