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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/38004?offset=50</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/13226/you-and-your-friend-have-similar-dna</guid>
	<pubDate>Sun, 27 Jul 2014 20:44:05 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/13226/you-and-your-friend-have-similar-dna</link>
	<title><![CDATA[You and your friend have similar DNA !!!]]></title>
	<description><![CDATA[<p>New research out of Massachusetts claims that people often choose friends that are similar to them in genetics and they are more accurate than you might suppose. A study published on PNAS&nbsp;http://www.pnas.org/content/111/Supplement_3/10796.full found that people are apt to pick friends who are genetically similar to themselves - so much so that friends tend to be as alike at the genetic level as a person's fourth cousin.</p><div style="text-align: center;"><img src="http://i.kinja-img.com/gawker-media/image/upload/s--CwLwHa43--/18fbmlokxcmqcjpg.jpg" alt="image" width="300" height="271" style="border: 0px; border: 0px;"></div><p>Scientists with a long-running Framingham Heart Study looked at 1,932 people (examination of about 1.5 million markers of genetic variations), comparing unrelated friends to unrelated strangers. They found that friends shared about 1% of their genes &mdash; a percentage much higher than those shared with strangers.This new findings made it clear that people have more DNA in common with those who are selected as friends than with strangers in the same population.&nbsp;</p><p>The genes that lined up the most were olfactory genes, which deal with smell. The ones that lined up the least were immune system genes. The researchers weren't sure why that happened :/. Olfactory genes might be a straightforward explanation: People who like the same smells tend to be drawn to similar environments, where they meet others with the same tendencies.</p><p>Reference:</p><p>http://www.pnas.org/content/111/Supplement_3/10796.full</p><p>Image : http://i.kinja-img.com</p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41222/best-practices-for-variant-calling-with-the-gatk</guid>
	<pubDate>Sat, 22 Feb 2020 03:07:31 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41222/best-practices-for-variant-calling-with-the-gatk</link>
	<title><![CDATA[Best Practices for Variant Calling with the GATK]]></title>
	<description><![CDATA[<p>The presentations below were filmed during the March 2015 GATK Workshop, part of the BroadE Workshop series. At the time of this workshop, the current version of Broad&rsquo;s Genome Analysis Toolkit (GATK) was version 3.3.</p>
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<ul>
<li><a href="https://software.broadinstitute.org/gatk/">Genome Analysis Toolkit</a></li>
</ul>
</div>
</div>
</div>
</div>
</div>
</div>
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<table>
<tbody style="vertical-align: top;">
<tr>
<td>03/19/15</td>
<td>Introduction to High-Throughput Sequencing data formats and methods</td>
<td>Joel Thibault</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeY3g1M1ZjVjFrZ2s/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6696">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Introduction to the GATK</td>
<td>Geraldine Van der Auwera</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeVEJ1Z1pXUF9Ib3M/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6707">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Mapping, processing, and duplicate marking with Picard tools</td>
<td>Matt Sooknah</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeaGVrbE1GVV9SQkE/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6706">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Mapping and processing RNAseq</td>
<td>Ami Levy-Moonshine</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeLUkwUm5vTGl4bG8/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6705">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Indel realignment</td>
<td>Mark Fleharty</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeLTFzNndsNDBuVms/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6704">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Base quality score recalibration</td>
<td>David Roazen</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeZk1rMXpTYmZzTXc/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6703">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Introduction to variant discovery: calling cohorts</td>
<td>Louis Bergelson</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeQUFYUFRmM1hhRUE/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6702">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Variant calling and joint genotyping</td>
<td>Sheila Chandran</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeYzVTUGs0bjM3M1E/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6701">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Variant quality score recalibration</td>
<td>Bertrand Haas</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeSEpwRkNVQm4wdkE/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6700">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Introduction to working with variants</td>
<td>Yossi Farjoun</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWec0NqUTN2WTRuWWs/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6699">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Genotype refinement</td>
<td>Laura Gauthier</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeMzFldVF5SUp4dWM/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6698">Video</a></td>
</tr>
<tr>
<td>03/19/15</td>
<td>Annotation and variant evaluation</td>
<td>David Benjamin</td>
<td><a href="https://docs.google.com/file/d/0B2dK2q40HDWeWi1YMm42bWdpRE0/preview" target="_blank">PDF</a></td>
<td><a href="https://www.broadinstitute.org/node/6697">Video</a></td>
</tr>
</tbody>
</table><p>Address of the bookmark: <a href="https://www.broadinstitute.org/partnerships/education/broade/best-practices-variant-calling-gatk-1" rel="nofollow">https://www.broadinstitute.org/partnerships/education/broade/best-practices-variant-calling-gatk-1</a></p>]]></description>
	<dc:creator>biogeek</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44622/variant-calling-resequencing-based-genome-inference</guid>
	<pubDate>Wed, 31 Jul 2024 02:02:24 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44622/variant-calling-resequencing-based-genome-inference</link>
	<title><![CDATA[Variant Calling Resequencing-Based Genome Inference]]></title>
	<description><![CDATA[<p>Variant Calling - Resequencing-Based Genome Inference</p>
<p>Erik Garrison<br>University of Tennessee Health Science Center<br>Workshop on Genomics - Česk&yacute; Krumlov<br>January 12, 2024</p>
<p>https://evomics.org/wp-content/uploads/2024/01/Variant-calling-Workshop-on-Genomics-2024-Cesky-Krumlov.pdf</p><p>Address of the bookmark: <a href="https://evomics.org/wp-content/uploads/2024/01/Variant-calling-Workshop-on-Genomics-2024-Cesky-Krumlov.pdf" rel="nofollow">https://evomics.org/wp-content/uploads/2024/01/Variant-calling-Workshop-on-Genomics-2024-Cesky-Krumlov.pdf</a></p>]]></description>
	<dc:creator>Abhi</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37536/snippy-rapid-haploid-variant-calling-and-core-snp-phylogeny</guid>
	<pubDate>Sat, 11 Aug 2018 11:06:56 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37536/snippy-rapid-haploid-variant-calling-and-core-snp-phylogeny</link>
	<title><![CDATA[Snippy: Rapid haploid variant calling and core SNP phylogeny]]></title>
	<description><![CDATA[<p><span>Snippy finds SNPs between a haploid reference genome and your NGS sequence reads. It will find both substitutions (snps) and insertions/deletions (indels). It will use as many CPUs as you can give it on a single computer (tested to 64 cores). It is designed with speed in mind, and produces a consistent set of output files in a single folder. It can then take a set of Snippy results using the same reference and generate a core SNP alignment (and ultimately a phylogenomic tree).</span></p>
<pre><code>snippy --cpus 16 --outdir mysnps --ref Listeria.gbk --R1 FDA_R1.fastq.gz --R2 FDA_R2.fastq.gz</code></pre><p>Address of the bookmark: <a href="https://github.com/tseemann/snippy" rel="nofollow">https://github.com/tseemann/snippy</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40711/vg-variation-graph-data-structures-interchange-formats-alignment-genotyping-and-variant-calling-methods</guid>
	<pubDate>Tue, 28 Jan 2020 03:53:24 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40711/vg-variation-graph-data-structures-interchange-formats-alignment-genotyping-and-variant-calling-methods</link>
	<title><![CDATA[VG: variation graph data structures, interchange formats, alignment, genotyping, and variant calling methods]]></title>
	<description><![CDATA[<p><em>Variation graphs</em>&nbsp;provide a succinct encoding of the sequences of many genomes. A variation graph (in particular as implemented in vg) is composed of:</p>
<ul>
<li><em>nodes</em>, which are labeled by sequences and ids</li>
<li><em>edges</em>, which connect two nodes via either of their respective ends</li>
<li><em>paths</em>, describe genomes, sequence alignments, and annotations (such as gene models and transcripts) as walks through nodes connected by edges</li>
</ul><p>Address of the bookmark: <a href="https://github.com/vgteam/vg" rel="nofollow">https://github.com/vgteam/vg</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/42470/the-new-corona-variant-has-23-mutations-in-all-which-is-unusually-huge</guid>
	<pubDate>Wed, 23 Dec 2020 03:50:50 -0600</pubDate>
	<link>https://bioinformaticsonline.com/news/view/42470/the-new-corona-variant-has-23-mutations-in-all-which-is-unusually-huge</link>
	<title><![CDATA[The new corona variant has 23 mutations in all, which is unusually huge !]]></title>
	<description><![CDATA[<p>The new SARS-CoV-2 version, B.1.1.7, which was first seen in the third week of September in Kent and Greater London, has since spread to other locations in the UK. According to the COVID-19 Genomics UK Consortium (COG-UK Consortium) that analysed the genome data of the virus and identified the variant, the new variant has been spreading "rapidly" over the last four weeks and has now been detected in other locations in the UK, suggesting further spread of the variant in the region.</p><p><span>According to a<span>&nbsp;</span></span><a href="https://virological.org/t/preliminary-genomic-characterisation-of-an-emergent-sars-cov-2-lineage-in-the-uk-defined-by-a-novel-set-of-spike-mutations/563"><strong><span>preliminary report</span></strong></a><span><span>&nbsp;</span>posted on December 19 by the COG-UK Consortium scientists, as of December 15, 1,623 variant genomes have been sequenced. In a<span>&nbsp;</span></span><a href="https://twitter.com/TheCGPS/status/1340749351803629569"><strong><span>December 21 tweet</span></strong></a><span>, COG-UK Consortium said that it added 2,963 more genome sequences of SARS-CoV-2, of which 942 (32%) belong to the new variant. The Consortium<span>&nbsp;</span></span><a href="https://twitter.com/CovidGenomicsUK/status/1341073233420955654"><strong><span>intends to sequence</span></strong></a><span><span>&nbsp;</span>20,000 more SARS-CoV-2 genomes in the next two weeks to further ascertain the spread of the variant.</span></p><p><span>There is no clear proof, at least not yet, that it does cause severe pandemic. But there is a justification for seriously taking the possibility. Another coronavirus lineage in South Africa has acquired one specific mutation that is also present in B.1.1.7. This variant is increasingly spreading across South Africa's coastal regions. And doctors have observed in preliminary research that individuals infected with this variant bear a higher viral load-a higher concentration of the virus in their upper respiratory tract. In many viral diseases, this is associated with more severe symptoms.</span></p><p>&nbsp;</p>]]></description>
	<dc:creator>Shruti Paniwala</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/27113/picard</guid>
	<pubDate>Fri, 29 Apr 2016 08:21:54 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/27113/picard</link>
	<title><![CDATA[Picard]]></title>
	<description><![CDATA[<p>Picard is a set of command line tools for manipulating high-throughput sequencing (HTS) data and formats such as SAM/BAM/CRAM and VCF. These file formats are defined in the <a href="http://samtools.github.io/hts-specs/">Hts-specs</a> repository. See especially the <a href="http://samtools.github.io/hts-specs/SAMv1.pdf">SAM specification</a> and the <a href="http://samtools.github.io/hts-specs/VCFv4.3.pdf">VCF specification</a>.</p>
<p>Note that the information on this page is targeted at end-users. For developers, the source code, building instructions and implementation/development resources are available on <a href="https://github.com/broadinstitute/picard">GitHub</a>.</p>
<p>The Picard toolkit is open-source under the <a href="https://tldrlegal.com/license/mit-license">MIT license</a> and free for all uses.</p>
<p>Enjoy!</p><p>Address of the bookmark: <a href="http://broadinstitute.github.io/picard/" rel="nofollow">http://broadinstitute.github.io/picard/</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36758/pbalign-maps-pacbio-reads-to-reference-sequences-and-saves-alignments-to-a-bam-file</guid>
	<pubDate>Thu, 24 May 2018 10:06:52 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36758/pbalign-maps-pacbio-reads-to-reference-sequences-and-saves-alignments-to-a-bam-file</link>
	<title><![CDATA[pbalign: maps PacBio reads to reference sequences and saves alignments to a BAM file]]></title>
	<description><![CDATA[pbalign aligns PacBio reads to reference sequences, filters aligned reads according to user-specific filtering criteria, and converts the output to either the SAM format or PacBio Compare HDF5 (e.g., .cmp.h5) format. The output Compare HDF5 file will be compatible with Quiver if --forQuiver option is specified.<p>Address of the bookmark: <a href="https://github.com/PacificBiosciences/pbalign" rel="nofollow">https://github.com/PacificBiosciences/pbalign</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/pages/view/35351/sam-to-bam-conversion</guid>
	<pubDate>Fri, 26 Jan 2018 02:36:18 -0600</pubDate>
	<link>https://bioinformaticsonline.com/pages/view/35351/sam-to-bam-conversion</link>
	<title><![CDATA[sam to bam conversion !!]]></title>
	<description><![CDATA[<p>To do sam to bam conversion, follow the following commands :-&nbsp;</p><div><div>Code:</div><pre dir="ltr">$ samtools view -b -S file.sam &gt; file.bam</pre></div><p>Then you will need to use&nbsp;<br /><br /></p><div><div>Code:</div><pre dir="ltr">$ samtools sort file.bam file-sorted</pre></div><p>followed by<br /><br /></p><div><div>Code:</div><pre dir="ltr">$ samtools index  file-sorted.bam</pre></div><p>in order to get an indexed file.<br /><br />If you just type&nbsp;<br /><br /></p><div><div>Code:</div><pre dir="ltr">$ samtools</pre></div><p>or samtools followed by the name of one of the samtools commands, you will get a few lines of help giving the correct syntax for that command,</p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43376/hisat2-index-files-download</guid>
	<pubDate>Wed, 15 Sep 2021 22:17:49 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43376/hisat2-index-files-download</link>
	<title><![CDATA[HISAT2 Index Files Download !]]></title>
	<description><![CDATA[<p>Resource for downloading all the HISAT2 related files&nbsp;</p>
<p>Please cite:</p>
<blockquote>
<p>Kim, D., Paggi, J.M., Park, C.&nbsp;<em>et al.</em>&nbsp;Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype.&nbsp;<em>Nat Biotechnol</em>&nbsp;<strong>37</strong>, 907&ndash;915 (2019).&nbsp;<a href="https://doi.org/10.1038/s41587-019-0201-4" target="_blank">https://doi.org/10.1038/s41587-019-0201-4</a></p>
</blockquote><p>Address of the bookmark: <a href="http://daehwankimlab.github.io/hisat2/download/#h-sapiens" rel="nofollow">http://daehwankimlab.github.io/hisat2/download/#h-sapiens</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
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