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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/27971?offset=1090</link>
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	<description><![CDATA[]]></description>
	
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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Here, the C in the reference genome has been replaced by a T in the variant.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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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/19729/senior-scientist-agricultural-bio-informatics-one-post</guid>
  <pubDate>Wed, 24 Dec 2014 05:01:02 -0600</pubDate>
  <link></link>
  <title><![CDATA[Senior Scientist (Agricultural Bio-informatics) (One post)]]></title>
  <description><![CDATA[
<p>Agricultural Scientists Recruitment Board</p>

<p>Qualifications Essential:<br />Doctoral degree in Bio-informatics/ Biotechnology/Molecular Biology and Biotechnology/Life Sciences/ Computer Sciences with specialization in Bio-informatics including relevant basic sciences with 8 years’ experience in the relevant subject as Scientist/Lecturer or in an equivalent position in the Pay Band- 3 of 15600-39100 with Grade Pay of 5400/6000/7000/8000 having made contribution to research/teachin/extension education as evidenced by published work/innovations and impact. </p>

<p>OR </p>

<p>Doctoral degree in the above subject(s) including relevant basic sciences with minimum 8 years’ experience of high quality post-doctoral research in an institution/organization as evidenced by at least 6 publications in journals with NAAS rating of 7.5 or above.</p>

<p>Desirable:<br />(i) Specialization and experience: Knowledge of software development and its application in crop bioinformatics, experience in handling ‘omies’data. <br />(ii) Teaching experience in relevant subject</p>

<p>The Secretary, Agricultural Scientists Recruitment Board, Indian Council of Agricultural Research Krishi Anusandhan Bhavan-I, Pusa New Delhi –110 012, India</p>

<p>Detailed eligibility criteria with how to apply information can be had at:<br />http://www.indiastudychannel.com/jobs/333467-Indian-Council-of-Agricultural-Research-looking-for-Assistant-Director-General.aspx</p>

<p>More at http://asrb.org.in/administrator/uploads_dir/1418978057english.pdf</p>
]]></description>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/34463/single-cell-rnaseq-data-analysis-tutorial</guid>
	<pubDate>Mon, 27 Nov 2017 16:24:29 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/34463/single-cell-rnaseq-data-analysis-tutorial</link>
	<title><![CDATA[Single Cell RNAseq data analysis tutorial !!]]></title>
	<description><![CDATA[<ul>
<li>A major breakthrough (replaced microarrays) in the late 00&rsquo;s and has been widely used since</li>
<li>Measures the&nbsp;average expression level&nbsp;for each gene across a large population of input cells</li>
<li>Useful for comparative transcriptomics, e.g.&nbsp;samples of the same tissue from different species</li>
<li>Useful for quantifying expression signatures from ensembles, e.g.&nbsp;in disease studies</li>
<li>Insufficient&nbsp;for studying heterogeneous systems, e.g.&nbsp;early development studies, complex tissues (brain)</li>
<li>Does&nbsp;not&nbsp;provide insights into the stochastic nature of gene expression</li>
</ul><p>Following are the useful links:</p><p><a href="http://hemberg-lab.github.io/scRNA.seq.course/scRNA-seq-course.pdf" target="_blank">Single Cell RNAseq data analysis Tutorial</a></p><p><a href="https://f1000research.com/articles/5-2122/v2" target="_blank">A step-by-step workflow for low-level analysis of single-cell RNA-seq data</a></p><p><a href="https://www.bioconductor.org/help/workflows/simpleSingleCell/" target="_blank">A step-by-step workflow for low-level analysis of single-cell RNA-seq data with Bioconductor</a></p><p>SCell: single-cell RNA-seq analysis software</p><p><a href="https://github.com/diazlab/SCell">https://github.com/diazlab/SCell</a></p><p>Beta-Poisson model for single-cell RNA-seq data analyses</p><p><a href="https://github.com/nghiavtr/BPSC">https://github.com/nghiavtr/BPSC</a></p><p>Sincera: A Computational Pipeline for Single Cell RNA-Seq Profiling Analysis</p><p><a href="https://research.cchmc.org/pbge/sincera.html">https://research.cchmc.org/pbge/sincera.html</a></p><p>SC3 &ndash; consensus clustering of single-cell RNA-Seq data</p><p><a href="http://biorxiv.org/content/early/2016/09/02/036558">http://biorxiv.org/content/early/2016/09/02/036558</a></p><p>Citrus: A toolkit for single cell sequencing analysis</p><p><a href="http://biorxiv.org/content/early/2016/09/14/045070">http://biorxiv.org/content/early/2016/09/14/045070</a></p><p>Single-Cell Resolution of Temporal Gene Expression during Heart Development</p><p><a href="http://www.cell.com/developmental-cell/fulltext/S1534-5807%2816%2930682-7">http://www.cell.com/developmental-cell/fulltext/S1534-5807(16)30682-7</a></p><p>Scalable latent-factor models applied to single-cell RNA-seq data separate biological drivers from confounding effects</p><p><a href="http://biorxiv.org/content/early/2016/11/15/087775">http://biorxiv.org/content/early/2016/11/15/087775</a></p><p>Single cell transcriptomes identify human islet cell signatures and reveal cell-type-specific expression changes in type 2 diabetes</p><p><a href="http://genome.cshlp.org/content/early/2016/11/18/gr.212720.116.abstract">http://genome.cshlp.org/content/early/2016/11/18/gr.212720.116.abstract</a></p><p>SCODE: An efficient regulatory network inference algorithm from single-cell RNA-Seq during differentiation</p><p><a href="http://biorxiv.org/content/early/2016/11/21/088856">http://biorxiv.org/content/early/2016/11/21/088856</a></p><p>SCOUP is a probabilistic model to analyze single-cell expression data during differentiation</p><p><a href="https://github.com/hmatsu1226/SCOUP">https://github.com/hmatsu1226/SCOUP</a></p><p>scLVM is a modelling framework for single-cell RNA-seq data</p><p><a href="https://github.com/PMBio/scLVM">https://github.com/PMBio/scLVM</a></p><p>Selective Locally linear Inference of Cellular Expression Relationships (SLICER) algorithm for inferring cell trajectories</p><p><a href="https://github.com/jw156605/SLICER">https://github.com/jw156605/SLICER</a></p><p>SinQC: A Method and Tool to Control Single-cell RNA-seq Data Quality</p><p><a href="http://www.morgridge.net/SinQC.html">http://www.morgridge.net/SinQC.html</a></p><p>TSCAN: Pseudo-time reconstruction and evaluation in single-cell RNA-seq analysis</p><p><a href="https://github.com/zji90/TSCAN">https://github.com/zji90/TSCAN</a></p><p>Visualization and cellular hierarchy inference of single-cell data using SPADE</p><p><a href="http://www.nature.com/nprot/journal/v11/n7/full/nprot.2016.066.html">http://www.nature.com/nprot/journal/v11/n7/full/nprot.2016.066.html</a></p><p>OEFinder: Identify ordering effect genes in single cell RNA-seq data</p><p><a href="https://github.com/lengning/OEFinder">https://github.com/lengning/OEFinder</a></p>]]></description>
	<dc:creator>Robert M Willioms</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/19820/rstudio</guid>
	<pubDate>Sat, 27 Dec 2014 06:50:58 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/19820/rstudio</link>
	<title><![CDATA[RStudio]]></title>
	<description><![CDATA[<p>RStudio IDE is a powerful and productive user interface for R. It&rsquo;s free and open source, and works great on Windows, Mac, and Linux.</p>
<p>The developers and expert trainers are the authors of several popular R packages, including ggplot2, plyr, lubridate, and others.</p>
<p>More at http://www.rstudio.com/</p>
<p>http://www.rstudio.com/products/RStudio/</p><p>Address of the bookmark: <a href="http://www.rstudio.com/" rel="nofollow">http://www.rstudio.com/</a></p>]]></description>
	<dc:creator>Jitendra Narayan</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42497/genome-assembly-training-tutorial-at-galaxy</guid>
	<pubDate>Sun, 27 Dec 2020 05:25:45 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42497/genome-assembly-training-tutorial-at-galaxy</link>
	<title><![CDATA[Genome assembly training tutorial at Galaxy !]]></title>
	<description><![CDATA[<p>In this tutorial we assemble and annotate the genome of <em>E. coli</em> strain <a href="http://cgsc2.biology.yale.edu/Strain.php?ID=8232">C-1</a>. This strain is routinely used in experimental evolution studies involving bacteriophages. For instance, now classic works by Holly Wichman and Jim Bull (<a href="https://training.galaxyproject.org/training-material/topics/assembly/tutorials/unicycler-assembly/tutorial.html#Bull1997">Bull 1997</a>, <a href="https://training.galaxyproject.org/training-material/topics/assembly/tutorials/unicycler-assembly/tutorial.html#Bull1998">Bull 1998</a>, <a href="https://training.galaxyproject.org/training-material/topics/assembly/tutorials/unicycler-assembly/tutorial.html#Wichman1999">Wichman 1999</a>) have been performed using this strain and bacteriophage phiX174.</p><p>Address of the bookmark: <a href="https://training.galaxyproject.org/training-material/topics/assembly/tutorials/unicycler-assembly/tutorial.html" rel="nofollow">https://training.galaxyproject.org/training-material/topics/assembly/tutorials/unicycler-assembly/tutorial.html</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/20271/research-associate-tata-memorial-centre-advanced-centre-for-treatment-research-and-education-in-cancer-kharghar-navi-mumbai</guid>
  <pubDate>Thu, 08 Jan 2015 20:53:57 -0600</pubDate>
  <link></link>
  <title><![CDATA[Research Associate	@ TATA MEMORIAL CENTRE ADVANCED CENTRE FOR TREATMENT, RESEARCH AND EDUCATION IN CANCER KHARGHAR, NAVI MUMBAI]]></title>
  <description><![CDATA[
<p>TATA MEMORIAL CENTRE ADVANCED CENTRE FOR TREATMENT, RESEARCH AND EDUCATION IN CANCER KHARGHAR, NAVI MUMBAI – 410210</p>

<p>Website: www.actrec.gov.in; Ph: 27405000</p>

<p>No. ACTREC/Advt./ 66 /2014 23rd December, 2014<br />Research Associate	</p>

<p>International Cancer Genome Consortium (ICGC) - India Project (IRB Project No. 3 A/c. No. 2408)</p>

<p>Dr. Rajiv Sarin</p>

<p>Duration of the Project: One year Extendable up to Three years.</p>

<p>Consolidated Salary: Rs. 42,000/- p.m.</p>

<p>Application last date: 8th January, 2015.</p>

<p>Interview Date &amp; Time: 21st January, 2015, at 11.00 a.m.</p>

<p>Venue: Conference Room, 3rd floor, Khanolkar Shodhika, ACTREC.</p>

<p>Essential Qualifications and Experience:</p>

<p>Ph.D (any branch of Life Sciences)</p>

<p>The candidate must have at least one year experience after Ph.D., preferably in Genomics and Molecular Biology.</p>

<p>Candidates fulfilling these requirements should pre register themselves by sending their application in the prescribed format with recent CV and contact details of 2 referees by e-mail to icgc@actrec.gov.in latest 8th January, 2015 by 10.00 a.m.</p>

<p>Candidates shortlisted for the interview will be intimated by email on or before 9th January, 2015.</p>

<p>The interviews would be held on 21st January 2015 and will be only for the pre registered candidates who have been shortlisted.<br />No T.A./D.A. will be admissible for attending the interview.</p>

<p>At the time of Interview the candidate should bring original certificates along with CV with contact details of 2 referees and submit the photocopies (attested) of the certificates, with a recent passport size photograph.</p>

<p>Advertisement: www.actrec.gov.in/data%20files/2014/Walk-in-Research-Fellow-26-12-14.doc</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/20454/comparative-genomics-in-ensembl</guid>
	<pubDate>Wed, 21 Jan 2015 08:31:11 -0600</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/20454/comparative-genomics-in-ensembl</link>
	<title><![CDATA[Comparative Genomics in Ensembl]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/dDRdCnZOMCM" frameborder="0" allowfullscreen></iframe>The Ensembl browser provides viewable whole-genome alignments, homologues and phylogenetic gene trees, protein families, and ancestral sequences.  Learn how to view and export these data in this video.]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/20471/bioinformatics-scripts</guid>
	<pubDate>Thu, 22 Jan 2015 22:29:39 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/20471/bioinformatics-scripts</link>
	<title><![CDATA[Bioinformatics Scripts]]></title>
	<description><![CDATA[<p>Some of the useful bioinformatics scripts.</p>
<p>For example ... contig-stats.pl is a Perl script that will automatically describe features of a sequence assembly.</p>
<p>http://milkweedgenome.org/?q=scripts</p><p>Address of the bookmark: <a href="http://milkweedgenome.org/?q=scripts" rel="nofollow">http://milkweedgenome.org/?q=scripts</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/20504/chromevol</guid>
	<pubDate>Sun, 25 Jan 2015 00:33:11 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/20504/chromevol</link>
	<title><![CDATA[ChromEvol]]></title>
	<description><![CDATA[<p>Chromosome number is a remarkably dynamic feature of eukaryotic evolution. Chromosome numbers can change by a duplication of the whole genome (a process termed polyploidy), or by single chromosome changes (ascending dysploidy via, e.g., chromosome fission or descending dysploidy via, e.g., chromosome fusion).<br> Of the various mechanisms of chromosome number change, polyploidy has received significant attention because of the impact such an event may have on the organism.<br> ChromEvol implements a series of likelihood models for the evolution of chromosome numbers. By comparing the fit of the different models to biological data, it may be possible to gain insight regarding the pathways by which the evolution of chromosome number proceeds. For each model, the program estimates the rates for the possible transitions assumed by the model, infers the set of ancestral chromosome numbers, and estimates the location along the tree for which polyploidy events (and other chromosome number changes) occurred. For further methodological details, see the publications and manual on the Downloads page.</p>
<p>http://www.tau.ac.il/~itaymay/cp/chromEvol/about.html</p><p>Address of the bookmark: <a href="http://www.tau.ac.il/~itaymay/cp/chromEvol/downloads.html" rel="nofollow">http://www.tau.ac.il/~itaymay/cp/chromEvol/downloads.html</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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<item>
  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/20672/jrfra-structuralcomputational-biology-at-icgeb</guid>
  <pubDate>Thu, 29 Jan 2015 11:52:40 -0600</pubDate>
  <link></link>
  <title><![CDATA[JRF/RA Structural/Computational Biology at ICGEB]]></title>
  <description><![CDATA[
<p>Research Associate and JRF positions in the Structural and Computational Biology Group starting 1st March 2015. Collaborative projects include work on:</p>

<p>a) bioinformatics, systems and computational biology <br />b) malaria <br />c) drug discovery <br />d) genomics <br />e) microbiology <br />f) metabolic disorders <br />g) molecular medicine</p>

<p>Eligibility: Applicants must have one of the following :</p>

<p>1) INSPIRE award for undertakig either PhD or Postdoctoral research; <br />2) SPM award for PhD; <br />3) JRF for pursuing PhD from CSIR/DBT/ICMR</p>

<p>Interest and experience in Biochemistry/Bioinformatics/Biophysics/ Chemistry/Genomics/Molecular Biology/ is essential.</p>

<p>Submit curriculum vitae to sb.icgeb@gmail.com by 20 February 2015</p>
]]></description>
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