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<channel>
	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/26972?offset=1180</link>
	<atom:link href="https://bioinformaticsonline.com/related/26972?offset=1180" rel="self" type="application/rss+xml" />
	<description><![CDATA[]]></description>
	
	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/44637/tools-to-access-the-quality-of-your-assembled-genome</guid>
	<pubDate>Thu, 08 Aug 2024 23:31:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/44637/tools-to-access-the-quality-of-your-assembled-genome</link>
	<title><![CDATA[Tools to access the quality of your assembled genome !]]></title>
	<description><![CDATA[<ul dir="auto">
<li><a href="https://github.com/linsalrob/fasta_validator">FASTA VALIDATOR</a>&nbsp;+&nbsp;<a href="https://github.com/shenwei356/seqkit">SEQKIT RMDUP</a>: FASTA validation</li>
<li><a href="https://genometools.org/tools/gt_gff3validator.html">GENOMETOOLS GT GFF3VALIDATOR</a>: GFF3 validation</li>
<li><a href="https://github.com/PlantandFoodResearch/assemblathon2-analysis/blob/a93cba25d847434f7eadc04e63b58c567c46a56d/assemblathon_stats.pl">ASSEMBLATHON STATS</a>: Assembly statistics</li>
<li><a href="https://genometools.org/tools/gt_stat.html">GENOMETOOLS GT STAT</a>: Annotation statistics</li>
<li><a href="https://github.com/ncbi/fcs">NCBI FCS ADAPTOR</a>: Adaptor contamination pass/fail</li>
<li><a href="https://github.com/ncbi/fcs">NCBI FCS GX</a>: Foreign organism contamination pass/fail</li>
<li><a href="https://gitlab.com/ezlab/busco">BUSCO</a>: Gene-space completeness estimation</li>
<li><a href="https://github.com/tolkit/telomeric-identifier">TIDK</a>: Telomere repeat identification</li>
<li><a href="https://github.com/oushujun/LTR_retriever/blob/master/LAI">LAI</a>: Continuity of repetitive sequences</li>
<li><a href="https://github.com/DerrickWood/kraken2">KRAKEN2</a>: Taxonomy classification</li>
<li><a href="https://github.com/igvteam/juicebox.js">HIC CONTACT MAP</a>: Alignment and visualisation of HiC data</li>
<li><a href="https://github.com/mummer4/mummer">MUMMER</a>&nbsp;&rarr;&nbsp;<a href="http://circos.ca/documentation/">CIRCOS</a>&nbsp;+&nbsp;<a href="https://plotly.com/">DOTPLOT</a>&nbsp;&amp;&nbsp;<a href="https://github.com/lh3/minimap2">MINIMAP2</a>&nbsp;&rarr;&nbsp;<a href="https://github.com/schneebergerlab/plotsr">PLOTSR</a>: Synteny analysis</li>
<li><a href="https://github.com/marbl/merqury">MERQURY</a>: K-mer completeness, consensus quality and phasing assessment</li>
</ul>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/10659/gps-dna-tracking-university-of-sheffield</guid>
	<pubDate>Sat, 10 May 2014 04:33:28 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/10659/gps-dna-tracking-university-of-sheffield</link>
	<title><![CDATA[GPS DNA tracking - University of Sheffield]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/Aap-s1kle4Q" frameborder="0" allowfullscreen></iframe>University of Sheffield geneticist and bioinformatics expert Dr Eran Elhaik demonstrates the power of his new DNA research, which allows people to discover their genetic homeland from 1000 years ago. Find out more about our biological research here http://www.sheffield.ac.uk/aps]]></description>
	
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37602/indexcov-fast-coverage-quality-control-for-whole-genome-sequencing</guid>
	<pubDate>Wed, 29 Aug 2018 09:20:46 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37602/indexcov-fast-coverage-quality-control-for-whole-genome-sequencing</link>
	<title><![CDATA[Indexcov: fast coverage quality control for whole-genome sequencing]]></title>
	<description><![CDATA[<p><em>indexcov</em><span>, an efficient estimator of whole-genome sequencing coverage to rapidly identify samples with aberrant coverage profiles, reveal large-scale chromosomal anomalies, recognize potential batch effects, and infer the sex of a sample.&nbsp;</span><em>Indexcov</em><span>&nbsp;is available at&nbsp;</span><a href="https://github.com/brentp/goleft" target="_blank">https://github.com/brentp/goleft</a><span>&nbsp;under the MIT license.</span></p><p>Address of the bookmark: <a href="https://github.com/brentp/goleft" rel="nofollow">https://github.com/brentp/goleft</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42826/ktrim-an-extra-fast-and-accurate-adapter-and-quality-trimmer-for-sequencing-data</guid>
	<pubDate>Thu, 11 Feb 2021 21:39:05 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42826/ktrim-an-extra-fast-and-accurate-adapter-and-quality-trimmer-for-sequencing-data</link>
	<title><![CDATA[Ktrim: an extra-fast and accurate adapter- and quality-trimmer for sequencing data]]></title>
	<description><![CDATA[<p>Ktrim&nbsp;is written in&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">C++</code>&nbsp;for GNU Linux/Unix platforms. After uncompressing the source package, you can find an executable file&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">ktrim</code>&nbsp;under&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">bin/</code>&nbsp;directory compiled using&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">g++ v4.8.5</code>&nbsp;and linked with&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libz v1.2.7</code>&nbsp;for Linux x86_64 system. If you could not run it (which is usually caused by low version of&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libc++</code>&nbsp;or&nbsp;<code style="font-size: 13.6px; padding: 0.2em 0.4em; margin: 0px; background-color: var(--color-markdown-code-bg);">libz</code>&nbsp;library) or you want to build a version optimized for your system, you can re-compile the programs:</p>
<p>user@linux$ make clean &amp;&amp; make</p><p>Address of the bookmark: <a href="https://github.com/hellosunking/Ktrim" rel="nofollow">https://github.com/hellosunking/Ktrim</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>

<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/12593/visiting-scientist-computational-genomics-two-positions</guid>
  <pubDate>Mon, 07 Jul 2014 22:53:41 -0500</pubDate>
  <link></link>
  <title><![CDATA[Visiting Scientist - Computational Genomics (two positions)]]></title>
  <description><![CDATA[
<p>Scientific/Managerial &amp; International Recruitment</p>

<p>ICRISAT seeks applications from Indian nationals Visiting Scientist-Computational Genomics (2 positions), to be part of a team of Centre of Excellence in Genomics (CEG), (www.icrisat.org/ceg) to work on legume genomics projects.  The positions will be based at ICRISAT’s Headquarters in Patancheru, Hyderabad, India.</p>

<p>ICRISAT is a non-profit, non-political organization that conducts agricultural research for development in Asia and sub-Saharan Africa with a wide array of partners throughout the world. Covering 6.5 million square kilometers of land in 55 countries, the semi-arid tropics is home to over 2 billion people, with 650 million of these are the poorest of the poor. ICRISAT and its partners help empower those living in the semi-arid tropics, especially smallholder farmers, to overcome poverty, hunger, malnutrition and a degraded environment through more efficient and profitable agriculture. ICRISAT is headquartered in Greater Hyderabad, Andhra Pradesh, India and belongs to the Consortium of Centers supported by the Consultative Group on International Agricultural Research (CGIAR).</p>

<p>The Job: Responsibilities for these positions include:</p>

<p>    Analyzing and handling large-scale next generation sequencing DNA and RNA data<br />    Data mining and development of pipelines and troubleshooting<br />    Genome diversity analysis such as SNPs, Indels, Structural Variations, population structure<br />    Genome wide association study (GWAS) related analysis- LD analysis, hapmap and trait mapping<br />    Expression analysis based on RNA-Seq data, annotation, gene ontology and metabolic pathway analysis<br />    Epigenome analysis, small RNA identification<br />    Gene family analysis, sequence level protein analysis, orthology/paralogy and molecular modelling<br />    Compiling and analysis of results, writing reports and research papers</p>

<p>The Person:  Ph.D. or MSc/MTech/PGDCA with two years research experience in Biotechnology, Computational biology, Agricultural/ Plant Biotechnology, Genetics, Molecular Biology or related discipline. Good knowledge of programming/scripting in at least two of following languages: Perl, C, C++, R, Shell Scripting and Python is plus.</p>

<p>How to apply: Please apply latest by 20 July 2014.  The application should include the name of the position applied for, a letter of motivation, a full Curriculum Vita (CV), and the names and contact information of three references that are knowledgeable of the candidate’s professional qualifications and work experience. Technical details and more information about these positions can be obtained from R.K.VARSHNEY@CGIAR.ORG. All applications will be acknowledged, however only short listed candidates will be contacted.</p>

<p>Apply here https://recruit.zoho.com/ats/Portal.na?digest=T642sgLYWZOStExJ77cPrcM*sIMGZETWw4yPxngbmHA-</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/1737/perl-in-a-day</guid>
	<pubDate>Sat, 10 Aug 2013 21:14:03 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/1737/perl-in-a-day</link>
	<title><![CDATA[Perl in a day !!]]></title>
	<description><![CDATA[<p>This pdf based tutorial in good resource to understand the basic of Perl in a day</p><p><a href="http://ritg.med.harvard.edu/training/perl/RC_Perl_Intro.pdf">http://ritg.med.harvard.edu/training/perl/RC_Perl_Intro.pdf</a></p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/11030/r-programming-and-jobs-website</guid>
	<pubDate>Sun, 25 May 2014 14:43:57 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/11030/r-programming-and-jobs-website</link>
	<title><![CDATA[R programming and Jobs website]]></title>
	<description><![CDATA[<p>Welcome to the R Jobs section of ProgrammingR.com. If your organization has an R employment opportunity that you would like to have posted here, submit it via the <a href="http://www.programmingr.com/contact" title="contact page">contact page</a>. Prospective employees: use the contact information provided in the position listing to apply or contact the hiring organization.</p><p>Address of the bookmark: <a href="http://www.programmingr.com/category/stype/r-job-listings/" rel="nofollow">http://www.programmingr.com/category/stype/r-job-listings/</a></p>]]></description>
	<dc:creator>Pragati Singh</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/22454/one-page-r-survival-guide</guid>
	<pubDate>Thu, 28 May 2015 21:10:12 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/22454/one-page-r-survival-guide</link>
	<title><![CDATA[One page R survival guide !!]]></title>
	<description><![CDATA[<p><span style="font-style: normal; color: #000000; float: none;">There any many of the documents have been developed and tested by scientist around the world. I found this one really useful. The data used is available for download as<span>&nbsp;</span></span><a href="http://onepager.togaware.com/data.zip">data.zip</a><span style="font-style: normal; color: #000000; float: none;">.</span></p><p><span style="font-style: normal; color: #000000; float: none;">Reference@http://www.datasciencecentral.com/profiles/blogs/one-page-r-a-survival-guide-to-data-science-with-r</span></p><ul>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Templates for the Data Scientist<ol style="margin: 0px; padding: 0px 0px 0px 1.5em; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">A Template for Preparing Data:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/DataO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/DataO.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">A Template for Building Models:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/ModelsO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/ModelsO.R">R</a></li>
</ol></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Getting Started as a Data Scientist<ol style="margin: 0px; padding: 0px 0px 0px 1.5em; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Getting Started with R and Rattle:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/StartL.pdf">Lecture</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/StartG.pdf">Laboratory</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Introducing and Interacting with R:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/IntroRL.pdf">Lecture</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/IntroRR.pdf">Laboratory</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">BasicR - OnePage(R) - Writing R scripts</li>
</ol></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Dealing With Data<ol style="margin: 0px; padding: 0px 0px 0px 1.5em; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Read Data into R:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/ReadO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/ReadO.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Explore and Summarise Data:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/SummaryO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/SummaryO.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Transform Data:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/TransformO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/TransformO.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><a href="http://togaware.com/onepager/DateTimeRB"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Dealing with Dates and Time:</span></a><span>&nbsp;</span>(<a href="http://onepager.togaware.com/DateTimeR.pdf">PDF</a>,<span>&nbsp;</span><a href="http://onepager.togaware.com/DateTimeR.R">R</a>) Dates and Time</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Visualising Data with GGPlot2:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/GGPlot2O.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/GGPlot2O.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Visualising Data with Maps</span><span>&nbsp;</span>*<a href="http://togaware.com/onepager/MapsO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/MapsO.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Spatial<span>&nbsp;</span>(R) Spatial Analysis</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Handling Big Data</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/BigDataO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/BigData.R">R</a></li>
</ol></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Descriptive Analytics<ol style="margin: 0px; padding: 0px 0px 0px 1.5em; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Cluster Analysis:</span><span>&nbsp;</span>*<a href="http://togaware.com/onepager/ClustersL.pdf">Lecture</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/ClustersO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/Clusters.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Association Analysis:</span><span>&nbsp;</span>*<a href="http://togaware.com/onepager/ARulesL.pdf">Lecture</a></li>
</ol></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Predictive Analytics<ol style="margin: 0px; padding: 0px 0px 0px 1.5em; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Decision Trees:</span><span>&nbsp;</span>*<a href="http://togaware.com/onepager/DTreesL.pdf">Lecture</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/DTreesO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/DTreesO.R">R</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/DTreesG.pdf">Rattle</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Ensembles of Decision Trees:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/EnsemblesL.pdf">Lecture</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/EnsemblesO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/EnsemblesO.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">SVM (R)</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">KernLab (R)</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">NeuralNetworks (R)</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">NNet (R)</li>
</ol></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Model Delivery<ol style="margin: 0px; padding: 0px 0px 0px 1.5em; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Evaluating Models:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/EvaluationO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/EvaluationO.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Evaluation (R)</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Scoring (R)</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">PMML (R) Exporting Models for Deployment</li>
</ol></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Advanced Topics<ol style="margin: 0px; padding: 0px 0px 0px 1.5em; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Text Mining:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/TextMiningO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/TextMiningO.R">R</a></li>
</ol></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Advanced R Topics<ol style="margin: 0px; padding: 0px 0px 0px 1.5em; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><a href="http://togaware.com/onepager/PlotsB"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Plots</span></a><span>&nbsp;</span>(<a href="http://onepager.togaware.com/Plots.pdf">PDF</a>,<span>&nbsp;</span><a href="http://onepager.togaware.com/Plots.R">R</a>) Miscellaneous Plots</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><a href="http://togaware.com/onepager/FunctionsB"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Functions</span></a><span>&nbsp;</span>(<a href="http://onepager.togaware.com/Functions.pdf">PDF</a>,<span>&nbsp;</span><a href="http://onepager.togaware.com/Functions.R">R</a>) Writing Functions in R</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><a href="http://togaware.com/onepager/ParallelB"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Parallel</span></a><span>&nbsp;</span>(<a href="http://onepager.togaware.com/Parallel.pdf">PDF</a>,<span>&nbsp;</span><a href="http://onepager.togaware.com/Parallel.R">R</a>) Parallel Execution</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Packaging (R) Pulling it Together into a Package</li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Doing R with Style:</span><span>&nbsp;</span>*<a href="http://onepager.togaware.com/StyleO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/StyleO.R">R</a></li>
<li style="margin: 0px; padding: 0px; border: 0px currentColor; font-style: inherit; font-weight: inherit; vertical-align: baseline;"><span style="margin: 0px; padding: 0px; border: 0px none currentcolor; font-style: inherit; font-weight: inherit; vertical-align: baseline;">Literate Data Mining with KnitR:</span><span>&nbsp;</span>*<a href="http://togaware.com/onepager/KnitRL.pdf">Lecture</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/KnitRO.pdf">OnePageR</a><span>&nbsp;</span>- *<a href="http://onepager.togaware.com/KnitRO.R"></a></li>
</ol></li>
</ul>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
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	<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>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/11311/stephen-friend-the-hunt-for-unexpected-genetic-heroes</guid>
	<pubDate>Sat, 31 May 2014 14:31:47 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/11311/stephen-friend-the-hunt-for-unexpected-genetic-heroes</link>
	<title><![CDATA[Stephen Friend: The hunt for "unexpected genetic heroes"]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/Yagdvqn2YMU" frameborder="0" allowfullscreen></iframe>What can we learn from people with the genetics to get sick — who don't? With most inherited diseases, only some family members will develop the disease, while others who carry the same genetic risks dodge it. Stephen Friend suggests we start studying those family members who stay healthy. Hear about the Resilience Project, a massive effort to collect genetic materials that may help decode inherited disorders.

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