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	<title><![CDATA[BOL: Related items]]></title>
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	<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>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/35571/medusa-a-multi-draft-based-scaffolder</guid>
	<pubDate>Wed, 14 Feb 2018 02:49:00 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/35571/medusa-a-multi-draft-based-scaffolder</link>
	<title><![CDATA[MeDuSa: a multi-draft based scaffolder]]></title>
	<description><![CDATA[<p><span>MeDuSa (Multi-Draft based Scaffolder), an algorithm for genome scaffolding. MeDuSa exploits information obtained from a set of (draft or closed) genomes from related organisms to determine the correct order and orientation of the contigs. MeDuSa formalises the scaffolding problem by means of a combinatorial optimisation formulation on graphs and implements an efficient constant factor approximation algorithm to solve it. In contrast to currently used scaffolders, it does not require either prior knowledge on the microrganisms dataset under analysis (e.g. their phylogenetic relationships) or the availability of paired end read libraries.&nbsp;</span></p><p>Address of the bookmark: <a href="https://github.com/combogenomics/medusa" rel="nofollow">https://github.com/combogenomics/medusa</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12206/bioinformatics-algorithms-tutorials</guid>
	<pubDate>Tue, 24 Jun 2014 00:10:45 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12206/bioinformatics-algorithms-tutorials</link>
	<title><![CDATA[Bioinformatics algorithms tutorials]]></title>
	<description><![CDATA[<p>Useful bioinformatics tutorial, such as</p>
<p>De Bruijn Graphs for NGS Assembly<br>Algorithms for PacBio Reads<br>Software and Hardware Concepts for Bioinformatics<br>Finding us in Homolog.us (Search Algorithms)<br>NGS Genome and RNAseq Assembly - a Hands on Primer<br>Introduction to PERL, Python, R and C/C++ for Bioinformatics</p><p>Address of the bookmark: <a href="http://www.homolog.us/Tutorials/" rel="nofollow">http://www.homolog.us/Tutorials/</a></p>]]></description>
	<dc:creator>John Parker</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36592/lachesis-genome-assembly-with-hi-c-based-contact-probability-maps-lachesis</guid>
	<pubDate>Mon, 14 May 2018 04:26:30 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36592/lachesis-genome-assembly-with-hi-c-based-contact-probability-maps-lachesis</link>
	<title><![CDATA[LACHESIS: Genome Assembly with Hi-C-based Contact Probability Maps (LACHESIS)]]></title>
	<description><![CDATA[<p>LACHESIS is method that exploits contact probability map data (e.g. from Hi-C) for chromosome-scale&nbsp;<em>de novo</em>&nbsp;genome assembly.</p>
<p>Further information about LACHESIS, including source code, documentation and a user's guide are available at:&nbsp;<a href="http://shendurelab.github.io/LACHESIS/">http://shendurelab.github.io/LACHESIS</a>.</p>
<p>Manuscript describing LACHESIS was published as: Burton JN#, Adey A, Patwardhan RP, Qiu R, Kitzman JO, Shendure J#.&nbsp;<em>Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions.</em>&nbsp;Nature Biotechnology 2013 Dec;31(12):1119-25. doi:&nbsp;<a href="http://dx.doi.org/10.1038/nbt.2727">10.1038/nbt.272</a>. PubMed PMID:&nbsp;<a href="http://www.ncbi.nlm.nih.gov/pubmed/24185095">24185095</a>.</p>
<p>&nbsp;</p>
<p>http://shendurelab.github.io/LACHESIS/</p><p>Address of the bookmark: <a href="http://shendurelab.github.io/LACHESIS/" rel="nofollow">http://shendurelab.github.io/LACHESIS/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/12944/orione-%E2%80%93-a-web-based-framework-for-ngs-analysis-in-microbiology</guid>
	<pubDate>Wed, 23 Jul 2014 06:43:03 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/12944/orione-%E2%80%93-a-web-based-framework-for-ngs-analysis-in-microbiology</link>
	<title><![CDATA[Orione – a web-based framework for NGS analysis in microbiology]]></title>
	<description><![CDATA[<p>End-to-end NGS microbiology data analysis requires a diversity of tools covering bacterial resequencing, de novo assembly, scaffolding, bacterial RNA-Seq, gene annotation and metagenomics. However, the construction of computational pipelines that use different software packages is difficult due to a lack of interoperability, reproducibility, and transparency. To overcome these limitations researchers at <a href="http://www.crs4.it/" target="_blank">CRS4</a>, Italy have developed Orione, a Galaxy-based framework consisting of publicly available research software and specifically designed pipelines to build complex, reproducible workflows for NGS microbiology data analysis. Enabling microbiology researchers to conduct their own custom analysis and data manipulation without software installation or programming, Orione provides new opportunities for data-intensive computational analyses in microbiology and metagenomics.</p>
<p>Reference</p>
<p>Cuccuru G1, Orsini M, Pinna A, Sbardellati A, Soranzo N, Travaglione A, Uva P, Zanetti G, Fotia G. (2014)<strong> Orione, a web-based framework for NGS analysis in microbiology.</strong> <em>Bioinformatics</em> [Epub ahead of print]. [<a href="http://bioinformatics.oxfordjournals.org/content/early/2014/03/10/bioinformatics.btu135.long" target="_blank">article</a>]</p><p>Address of the bookmark: <a href="http://orione.crs4.it/" rel="nofollow">http://orione.crs4.it/</a></p>]]></description>
	<dc:creator>Martin Jones</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/37905/phased-human-genome-assembly</guid>
	<pubDate>Mon, 08 Oct 2018 09:10:54 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/37905/phased-human-genome-assembly</link>
	<title><![CDATA[Phased Human Genome Assembly !]]></title>
	<description><![CDATA[<p>The new publicly available assembly (PacBio&nbsp;<a href="https://www.globenewswire.com/Tracker?data=IM2cKfZgtHafORdb9VSstujBjyW-aIzFILCtXNAkcY_yqVmxdjvG01R_FZQC7zLxs-alqquXwsW6MG98G9-g-ym8Nue2pmUZMtkIg3FIat2mYbJ-z2Ra367GlinbO13x" target="_blank" title=""><span style="text-decoration: underline;">HG00733</span></a>) has the fewest gaps of any human genome assembly, with more than half of the genome contained in gapless sequence at least 27 Mb long. The primary contig assembly is 2.89 Gb long and consists of 865 contigs that were assembled with PacBio data generated with the company&rsquo;s Sequel<span>&reg;</span>&nbsp;System. Using the&nbsp;<a href="https://www.globenewswire.com/Tracker?data=jOa6mE1Y5r8VbU1CaCgx1A0HsoVzJ7waxOiDKgvmKL6cwJq_eH4nWrGj2vLkNpxHl1-5CH4htDB4113PXT8WU60hvHQ-KKpvAwQwveEGvz3N4d0q7QHSa_X97LW8_9xEiYqfsc4d24ca-IpVYZsf7Ue-XL7fSIIZw_EHK-F96t1aaQNRcD-z1PP5qvlZbVwX" target="_blank" title=""><span style="text-decoration: underline;">FALCON-Unzip assembler</span></a>, maternal and paternal haplotypes were resolved over more than 80% of the genome. Maternal and paternal haplotype blocks were then further phased using Hi-C technology and the&nbsp;<a href="https://www.globenewswire.com/Tracker?data=jOa6mE1Y5r8VbU1CaCgx1IrQmRcKvNQm83FLTqQE6OGzutM-fEggnm4Z-nsniK0D_YmDKS_UKWE0NHtHbgvbL973Y2-9NhrWhYKizXQ4lpiTvlqPf1UZdjqVs7BDjISgDnovv8foYw8es8jQzAg5Xfq1CH36NOnWQgA_X04XSvyEEEj0q801Im6cV5M5K4eL15vb_ZgUayccOvDY_fc6lxxPAAAyA4h16-zUN44Y81KdujciCrJrv5xynMIXEjRsaIKCf6eCX_Q1j_uZlN5TD0MVr6HulTYG8lGgyL0x-eQ=" target="_blank" title=""><span style="text-decoration: underline;">FALCON-Phase method</span></a>developed in collaboration with Phase Genomics. The genome was then&nbsp;<em>de novo</em>&nbsp;scaffolded using Phase Genomics&rsquo;&nbsp;<a href="https://www.globenewswire.com/Tracker?data=4wcqEWHJpCHRJARQkC0oVkYT9htT14iVebujxcW1nMpAjmigHGQ46ObCGetRfyaZm1ADIHaV1-30B9izTAhjJ-efhFlxorUxs08kdV-9AAzQyuHJ9S7wxnRRnyegsTZd" target="_blank" title=""><span style="text-decoration: underline;">Proximo Hi-C platform</span></a>, resulting in the first chromosome-scale diploid assembly of a single individual accomplished with only two technologies. More specific details about the assembly are included on the PacBio blog.</p><p>The data are available using NCBI accession IDs: BioProject: (<a href="https://www.globenewswire.com/Tracker?data=YZtCuhY2wu5H0yIso9jtUufPXbwyHh1QOZ1jBggGpK5NtXaU_JGC9X39F3uHZ96uVmu6hW5OB2Qq805hUEW2OhSNCm630yFiEF6_nsAwYB0=" target="_blank" title=""><span style="text-decoration: underline;">PRJNA483067</span></a>), assembly: [<a href="https://www.globenewswire.com/Tracker?data=CEXZ7E56JOsRgfH4Wq3r5LVbv4QH_UIekV9idYBys9l8K7pFft824jmYWNzJqK7lQ9fMbaAtbURpm8gM7zqUbpPUrydFwrkJGGtG-NBHctjyjddiFY-p06xZPm2mHXE2" target="_blank" title=""><span style="text-decoration: underline;">RBJD00000000</span></a>] and sequence data (<a href="https://www.globenewswire.com/Tracker?data=pELP2RpqTqTRaPF9yN1N7GZYlQmTxpY0aW-B8xaNw6iyD-Lylw7X3UzMDK3YS4AIYgLtD13em2XsbzOwKhXuNbI4Ks6-LSyXl1_yVdFoB0U=" target="_blank" title=""><span style="text-decoration: underline;">SRP155659</span></a>).</p><p><span>Additional Resources</span></p><ul>
<li><a href="http://globenewswire.com/Tracker?data=zXpdadphSgIAIEWeq46yRPm5-TU0H7wTkL48ue4I9GsaHd5mJyMb9PgXgAsElREkLOCOdWdJ8uW9DHB-LyQ7xhzbd97Qis6CuAlqD0ubGgY%3D" target="_blank" title=""><span style="text-decoration: underline;">Interactive map</span></a>&nbsp;showcasing global initiatives underway to generate reference-quality human genome assemblies for diverse populations</li>
<li><a href="http://globenewswire.com/Tracker?data=EQ8NIaaa8k1Nw1MPRJYIHYrqgsDy92kU8W0siJdGQhq5IJ0dcb890PFFm-C1SrAlFf0xkxUVRxZefFK5ebhoIzmS-6OjR1G9sTxOkCOwRHCAZWmHL-e7uGSuZYcw1VsDp8AeDWO0RwcepMMB6hAoR6BBCJDiJVVZtdFlWBn2uxs%3D" target="_blank" title=""><span style="text-decoration: underline;">BioReport Podcast</span></a>&nbsp;on the value of ethnic-specific reference genomes</li>
<li><em>Nature Reviews Genetics</em>&nbsp;paper from NHGRI:&nbsp;<a href="http://globenewswire.com/Tracker?data=dffu-wPD_JX1_KVeCA6VFy-kP1tlAUbn7d85saXD59dnnJfT2BE3N_Rbm6kT4BvifA_XEs49ioa75cy4HyFi90RA_LRa2QFF6Y4mr-dcoMucljZw0K4JNDZuwWkWPE51cVC2Lqq3E3C1aZ8un6Bq3i-OO_NiVH0hh23hUw4wC84%3D" target="_blank" title=""><span style="text-decoration: underline;">Prioritizing&nbsp;diversity&nbsp;in human genomics research</span></a></li>
<li>Article in&nbsp;<em>The Journal of Precision Medicine</em>: &ldquo;<a href="http://globenewswire.com/Tracker?data=yokLqO2TCBLCdj6uZl-GYbqcGMWBerBYjSPrLMumNrWF2p5XlXq9yl5p-1b5xx3Ckfn5ZjQWkdhxLttbiNae5gccUCP-9RWPUqvTu9MuU9zgJ1c8e14lAladCuEOiVZ2oVRiqssPtLu9hgQWw4ad5EUxZemevsHE4BHC6IiFmMZ6DS6ApwZu-IonFgCFBIcjWOpitQthDASosfaqkMi9LsKgLU9F0WGVJDDOzHXpddhjfCUdEEJ7xC1p8uh9TSiCZgZV6XPlUJSe8n0C_9TtOw%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Minority Report &ndash; Ethnic Diversity and the Real Promise for Precision Medicine</span></a>&rdquo;</li>
<li>Article&nbsp;in&nbsp;<em>Bio-IT World</em>: &ldquo;<a href="http://globenewswire.com/Tracker?data=rLp1pKetctTPitNEnRjOVDZ3Cvw3FUdL6_ybXncvhjR4ksOrX3y6HUK8WtLlKHT7XZzq_woUjZ-uw20YNvsP0GZAmy5lVqETt27oBLi02wFtTH_6ubELIHtBu8vfVyKnqKp-YhosFG5K7y0RUtzmNjOAlCYPAeVXabn2a2AiSePxUXA_tSy_g79hjYm63x9dPN9oFQGYedOsyHD_ls8DKw%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Genomic Data Standards Are a Necessity</span></a>&rdquo;</li>
<li>NHGRI Project Award:&nbsp;<a href="http://globenewswire.com/Tracker?data=FbqTEeRffJ88lFryYX6MiOefXvIXFdZDAyW4nrFoYNHaJyMEYIcb7I4BIcEQmxzsKOjrlf9F8irfRJeJLOqG8KFsl-kvkhakUkg3BfYdKGnpLzKYyWbUFR0aKMeEXirHBi7oDLEUSDO45qxANwxyee-pqZXfzAIwF1Wcuaf7EIzNqRqmBUJ3TyNyI05lwAo9gDKmApMnJo5VxPj5P_6rY8lisuv1PNSAh_kJPOuhVBk%3D" target="_blank" title=""><span style="text-decoration: underline;">High Quality Human and Non-Human Primate Genome Assemblies</span></a></li>
</ul><p>More details are available on the PacBio website:</p><ul>
<li>Blog post:&nbsp;<a href="http://globenewswire.com/Tracker?data=ycj-ujgsKzVyljNa11buVmIS5tk9B733VsFZEw77nBXo-IkBvcoG16dN9vuTiY3nm2G5dJZS5Iva3w_znrEtJVDuU8cVlFpozY2ibinKwrMGxkXZVSqW8_uD8fbySRjM5Q_cjuPU22ARFSSLCc9vHJx9WHnb9Rza-qPbuWgewa0rWWStq2fQY5mLpeaQf5fcDJnyQkvDAMI3fauXdzyThg%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Data Release: Highest-Quality, Most Contiguous Individual Human Genome Assembly to Date</span></a></li>
<li>Blog post:&nbsp;<a href="http://globenewswire.com/Tracker?data=GlZZ9nyp5mDSjJPPfhVD1-dZ_W2l8s0eAUox3TQs949zyGjzO7dx9xodyvyqerdqPC-G3ZhdPEs9xNhJwflrwgHPYQL3kTofprKHBBq3O4gn9E75YUBweJw9b6tTE89sMLUQzF-vRNNDjero3mibm_uG-fSHoYBTm2ZlyEmwzZ5E9tXVd5_RjG0Xnej2E0scA0SncEItAF6Q7vdOydTV_Yr9yYT2TmKY5jtyAt6ZrNGn3McqfV9mMRkR-8dYJLqrQln9JiEkWTwUae6Blj56HyjyXKl6Dfa_CyNuy4r-EWU%3D" target="_blank" title=""><span style="text-decoration: underline;">For Reference-Grade Human Genome Assemblies, SMRT Sequencing Yields Optimal Results</span></a></li>
<li>Webinar: &nbsp;<a href="http://globenewswire.com/Tracker?data=xlnfDwMNLGZZvtexJYsUgMe-DV8HNrYx2QqjwIjfj40dToVtqrBi-gvhknHZmIe8GV_3WU3_9LIlP6GzG3ZoajnDIpwECzdMV5Vyy8Ast4Y2AiHJckf7rBhZVEU4_mV4JB0k3I9XjN2jHK8Cp5uBxyIWWqPdI6qBBdCYYhYLXUTkKpaZEV98oCfC5ET2Q7OSwUM7NieKa75yzMHwaPEYwg%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Assembling High-Quality Human Reference Genomes for Global Populations</span></a></li>
<li>FALCON-Phase&nbsp;<a href="http://globenewswire.com/Tracker?data=4Z9LDdRq3w2zYFQXEFGmz6u-Vrbfh96syfzrQMKhegLRo2PUvk7s3Xz_y1o--NuTLoCQMrHsqOEBUHIL1IPeOmhyf6Eqwdp8dv8xYo9gSVI%3D" target="_blank" title=""><span style="text-decoration: underline;">press release</span></a>&nbsp;and article&nbsp;<a href="http://globenewswire.com/Tracker?data=4Z9LDdRq3w2zYFQXEFGmz9Ts_IJqHWWrKd33x_ldJEU9mSKXpcVTTi9ioY0kVqrbrXHeCKDf4TdPnAoPJaGBK3YeZtYp-nXZacgyPESZ1XboSUZEJ9rIhDyW7bTLL5HN" target="_blank" title=""><span style="text-decoration: underline;">preprint</span></a></li>
<li>PacBio research focus webpage about&nbsp;<a href="http://globenewswire.com/Tracker?data=E-zzUkw4N01KR4muPun47qg4HX8ToDvLS4sX953hLM2wRyQZ2upkLR4WidyXTFDRLWQORpqxnkbD-CNzsOJyIfH8mJPbrLwRf04J4yjuNdem-Fulc8QIT3OCi4wx5LpqgC2ymLE0rYX5UOpbFPBgvA%3D%3D" target="_blank" title=""><span style="text-decoration: underline;">Human Population Genetics</span></a></li>
</ul><p>&nbsp;Ref:&nbsp;https://stockguru.com/2018/10/08/pacific-biosciences-releases-highest-quality-most-contiguous-individual-human-genome-assembly-to-date/</p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38063/referee-genome-assembly-quality-scores</guid>
	<pubDate>Sun, 04 Nov 2018 16:44:30 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38063/referee-genome-assembly-quality-scores</link>
	<title><![CDATA[Referee: Genome assembly quality scores]]></title>
	<description><![CDATA[<p>Modern genome sequencing technologies provide a succint measure of quality at each position in every read, however all of this information is lost in the assembly process. Referee summarizes the quality information from the reads that map to a site in an assembled genome to calculate a quality score for each position in the genome assembly.</p>
<p>We accomplish this by first calculating genotype likelihoods for every site. For a given site in a diploid genome, there are 10 possible genotypes (AA, AC, AG, AT, CC, CG, CT, GG, GT, TT). Referee takes as input the genotype likelihoods calculated for all 10 genotypes given the called reference base at each position.</p>
<h3>Referee is a program to calculate a quality score for every position in a genome assembly. This allows for easy filtering of low quality sites for any downstream analysis.</h3>
<p>https://github.com/gwct/referee</p><p>Address of the bookmark: <a href="https://gwct.github.io/referee/#" rel="nofollow">https://gwct.github.io/referee/#</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/17926/orange-bioinformatics-2534</guid>
	<pubDate>Mon, 06 Oct 2014 12:51:37 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/17926/orange-bioinformatics-2534</link>
	<title><![CDATA[Orange-Bioinformatics 2.5.34]]></title>
	<description><![CDATA[<p>Orange Bioinformatics extends <a href="http://orange.biolab.si/">Orange</a>, a data mining software package, with common functionality for bioinformatics. The provided functionality can be accessed as a Python library or through a visual programming interface (Orange Canvas). The latter is also suitable for non-programmers.</p>
<p>Orange Bioinformatics provides access to publicly available data, like GEO data sets, Biomart, GO, KEGG, Atlas, ArrayExpress, and PIPAx database. As for the analytics, there is gene selection, quality control, scoring distances between experiments with multiple factors. All features can be combined with powerful visualization, network exploration and data mining techniques from the Orange data mining framework.</p><p>Address of the bookmark: <a href="https://pypi.python.org/pypi/Orange-Bioinformatics/2.5.34" rel="nofollow">https://pypi.python.org/pypi/Orange-Bioinformatics/2.5.34</a></p>]]></description>
	<dc:creator>Robert M Willioms</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/18385/biinformamatics-lead-at-google-life-sciences</guid>
  <pubDate>Fri, 17 Oct 2014 02:24:55 -0500</pubDate>
  <link></link>
  <title><![CDATA[Biinformamatics Lead at Google Life Sciences]]></title>
  <description><![CDATA[
<p>Google Life Sciences is recruiting a technical lead with experience in bioinformatics and clinical bioinformatics, including for biomarker discovery projects such as the Baseline study.</p>

<p>Responsibilities</p>

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

<p>Reference @ https://www.google.com/about/careers/search#!t=jo&amp;jid=62095001</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/19633/vital-it</guid>
	<pubDate>Thu, 18 Dec 2014 10:46:59 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/19633/vital-it</link>
	<title><![CDATA[Vital-IT]]></title>
	<description><![CDATA[<p>Vital-IT is a <strong>bioinformatics competence center</strong> that supports and collaborates with life scientists in Switzerland and beyond. The <a href="http://www.vital-it.ch/about/team.php">multi-disciplinary team</a> provides expertise, training and maintains a high-performance computing (HPC) and storage infrastructure, so as to help develop, maintain and extend life science and medical research (<a href="http://www.vital-it.ch/about/activities.php">activities</a>).</p><p>Address of the bookmark: <a href="http://www.vital-it.ch/" rel="nofollow">http://www.vital-it.ch/</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
</item>

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