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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/41969?offset=90</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/30149/mypro-a-seamless-pipeline-for-automated-prokaryotic-genome-assembly-and-annotation</guid>
	<pubDate>Thu, 15 Dec 2016 05:47:35 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/30149/mypro-a-seamless-pipeline-for-automated-prokaryotic-genome-assembly-and-annotation</link>
	<title><![CDATA[MyPro: A seamless pipeline for automated prokaryotic genome assembly and annotation]]></title>
	<description><![CDATA[<p>MyPro is an improved genomics software pipeline for prokaryotic genomes. MyPro is user-friendly and requires minimal programming skills. High-quality prokaryotic genome assembly and annotation can be obtained with ease. It performed better than de novo assemblers and contig integration software. Produces more contiguous assemblies, higher N50 values and lower number of contigs.</p>
<p>More at https://sourceforge.net/projects/sb2nhri/files/MyPro/</p><p>Address of the bookmark: <a href="http://www.sciencedirect.com/science/article/pii/S0167701215001207" rel="nofollow">http://www.sciencedirect.com/science/article/pii/S0167701215001207</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/42148/chromatiblock-scalable-whole-genome-visualisation-of-structural-changes-in-prokaryotes</guid>
	<pubDate>Sat, 22 Aug 2020 05:17:18 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/42148/chromatiblock-scalable-whole-genome-visualisation-of-structural-changes-in-prokaryotes</link>
	<title><![CDATA[chromatiblock: Scalable, whole-genome visualisation of structural changes in prokaryotes]]></title>
	<description><![CDATA[<p>To create a fresh environment for chromatiblock to run in do:</p>
<pre><code>conda create --name chromatiblock
conda activate chromatiblock
conda install chromatiblock --channel conda-forge --channel bioconda
</code></pre>
<p>Then in future to run chromatiblock you can reactivate this environemtn using&nbsp;<code>conda activate chromatiblock</code></p>
<h4><a href="https://github.com/mjsull/chromatiblock#direct-download"></a>Direct download:</h4>
<p>Alternatively you can download and run the script from&nbsp;<a href="https://github.com/mjsull/chromatiblock/releases/download/v0.4.1/chromatiblock">here</a>.</p><p>Address of the bookmark: <a href="https://github.com/mjsull/chromatiblock" rel="nofollow">https://github.com/mjsull/chromatiblock</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44892/grannot</guid>
	<pubDate>Sun, 31 Aug 2025 06:21:50 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44892/grannot</link>
	<title><![CDATA[GrAnnoT]]></title>
	<description><![CDATA[<p>GrAnnoT is an annotation transfer tool for pangenome graphs. It can transfer linear genome annotations to a pangenome graph containing the genome, and also transfer the pangenome graph's annotations on the genomes it contains. It also outputs complementary information such as the alignments of the transfered genes, or a presence-absence matrix.</p><p>Address of the bookmark: <a href="https://forge.ird.fr/diade/dynadiv/grannot" rel="nofollow">https://forge.ird.fr/diade/dynadiv/grannot</a></p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37550/mirem-an-expectation-maximization-approach-for-prioritizing-mirnas-associated-with-gene-set</guid>
	<pubDate>Thu, 16 Aug 2018 04:48:07 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37550/mirem-an-expectation-maximization-approach-for-prioritizing-mirnas-associated-with-gene-set</link>
	<title><![CDATA[miREM: an expectation-maximization approach for prioritizing miRNAs associated with gene-set]]></title>
	<description><![CDATA[<p>From list of genes... ... to microRNAs</p>
<p>Using established miRNA-interaction databases, miREM combines hypergeometric and expectation-maximization algorithms to sieve through your genetic data for microRNA signatures</p>
<p>https://bioinfo-csi.nus.edu.sg/mirem2/</p><p>Address of the bookmark: <a href="https://bioinfo-csi.nus.edu.sg/mirem2/" rel="nofollow">https://bioinfo-csi.nus.edu.sg/mirem2/</a></p>]]></description>
	<dc:creator>Abhimanyu Singh</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43057/hapsolo-an-optimization-approach-for-removing-secondary-haplotigs-during-diploid-genome-assembly-and-scaffolding</guid>
	<pubDate>Sat, 08 May 2021 21:25:00 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43057/hapsolo-an-optimization-approach-for-removing-secondary-haplotigs-during-diploid-genome-assembly-and-scaffolding</link>
	<title><![CDATA[HapSolo: An optimization approach for removing secondary haplotigs during diploid genome assembly and scaffolding]]></title>
	<description><![CDATA[<p><span>HapSolo, that identifies secondary contigs and defines a primary assembly based on multiple pairwise contig alignment metrics. HapSolo evaluates candidate primary assemblies using BUSCO scores and then distinguishes among candidate assemblies using a cost function. The cost function can be defined by the user but by default considers the number of missing, duplicated and single BUSCO genes within the assembly. HapSolo performs hill climbing to minimize cost over thousands of candidate assemblies.&nbsp;</span></p><p>Address of the bookmark: <a href="https://github.com/esolares/HapSolo" rel="nofollow">https://github.com/esolares/HapSolo</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40546/clincnv-detection-of-copy-number-changes-in-germlinetriosomatic-contexts-in-ngs-data</guid>
	<pubDate>Thu, 16 Jan 2020 23:16:02 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40546/clincnv-detection-of-copy-number-changes-in-germlinetriosomatic-contexts-in-ngs-data</link>
	<title><![CDATA[ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data]]></title>
	<description><![CDATA[<p><span>ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it makes sense to try&nbsp;</span><code>ClinCNV</code><span>&nbsp;if you have more than 10 samples (recommended amount - 40 since we estimate variances from the data). By "cohort" we mean samples sequenced with the same enrichment kit with approximately the same depth (ie 1x WGS and 30x WGS better be analysed in separate runs of ClinCNV). Of course it is better if your samples were sequenced within the same sequencing facility.</span></p><p>Address of the bookmark: <a href="https://github.com/imgag/ClinCNV" rel="nofollow">https://github.com/imgag/ClinCNV</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/34569/ksnp30-snp-detection-and-phylogenetic-analysis-of-genomes-without-genome-alignment-or-reference-genome</guid>
	<pubDate>Fri, 08 Dec 2017 16:48:40 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/34569/ksnp30-snp-detection-and-phylogenetic-analysis-of-genomes-without-genome-alignment-or-reference-genome</link>
	<title><![CDATA[kSNP3.0: SNP detection and phylogenetic analysis of genomes without genome alignment or reference genome]]></title>
	<description><![CDATA[<p><span>Sept. 20, 2017 Version 3.1 released. Major upgrade. Version 3.1 fixes the problems with SNP annotation that arose when NCBI discontinued use of GI numbers. Please read carefully the Preface (page 3) and the File of annotated genomes section (pages 9-10) in the version 3.1 User Guide. Thanks to Tom Slezak for revsing the get_genbank_file3 script and to Tod Stuber (USDA) for testing version 3.1 even though he doesn't need the annotation feature. All users are encouraged to upgrade to version 3.1.&nbsp;<br></span></p><p>Address of the bookmark: <a href="https://sourceforge.net/projects/ksnp/files/" rel="nofollow">https://sourceforge.net/projects/ksnp/files/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36806/manta-rapid-detection-of-structural-variants-and-indels-for-germline-and-cancer-sequencing-applications</guid>
	<pubDate>Mon, 28 May 2018 09:41:39 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36806/manta-rapid-detection-of-structural-variants-and-indels-for-germline-and-cancer-sequencing-applications</link>
	<title><![CDATA[Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.]]></title>
	<description><![CDATA[Manta calls structural variants (SVs) and indels from mapped paired-end sequencing reads. It is optimized for analysis of germline variation in small sets of individuals and somatic variation in tumor/normal sample pairs. Manta discovers, assembles and scores large-scale SVs, medium-sized indels and large insertions within a single efficient workflow.<p>Address of the bookmark: <a href="https://github.com/Illumina/manta" rel="nofollow">https://github.com/Illumina/manta</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41397/svaba-structural-variation-and-indel-detection-by-local-assembly</guid>
	<pubDate>Tue, 10 Mar 2020 07:52:15 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41397/svaba-structural-variation-and-indel-detection-by-local-assembly</link>
	<title><![CDATA[SvABA: Structural variation and indel detection by local assembly]]></title>
	<description><![CDATA[<p><span>SvABA is a method for detecting structural variants in sequencing data using genome-wide local assembly. Under the hood, SvABA uses a custom implementation of&nbsp;</span><a href="https://github.com/jts/sga">SGA</a><span>&nbsp;(String Graph Assembler) by Jared Simpson, and&nbsp;</span><a href="https://github.com/lh3/bwa">BWA-MEM</a><span>&nbsp;by Heng Li. Contigs are assembled for every 25kb window (with some small overlap) for every region in the genome. The default is to use only clipped, discordant, unmapped and indel reads, although this can be customized to any set of reads at the command line using&nbsp;</span><a href="https://github.com/walaj/VariantBam">VariantBam</a><span>&nbsp;rules. These contigs are then immediately aligned to the reference with BWA-MEM and parsed to identify variants. Sequencing reads are then realigned to the contigs with BWA-MEM, and variants are scored by their read support.</span></p><p>Address of the bookmark: <a href="https://github.com/walaj/svaba" rel="nofollow">https://github.com/walaj/svaba</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45276/the-hidden-pages-of-our-dna</guid>
	<pubDate>Sat, 05 Sep 2026 01:04:22 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45276/the-hidden-pages-of-our-dna</link>
	<title><![CDATA[The Hidden Pages of Our DNA]]></title>
	<description><![CDATA[<p>Imagine opening the instruction manual for life.</p><p>It is enormous, billions of letters long. Some of those letters are easy to understand because they contain instructions for building proteins, the tiny machines that keep our cells alive.</p><p>But what if some of the most important instructions aren't in those obvious chapters?</p><p>Scientists have long suspected that the mysterious stretches of DNA between protein-coding genes may contain some of life's most interesting secrets. These regions can act like switches, telling genes when, where, and how strongly to turn on. Among them are conserved non-coding elements, or CNEs DNA sequences that have remained remarkably similar across different species.</p><p>Think of a CNE as a sentence that nature has copied into several editions of the same book.</p><p>A mouse has it.</p><p>A bird has it.</p><p>A human has it.</p><p>And despite millions of years of evolution, much of the sentence remains almost unchanged.</p><p>That conservation is a clue: this piece of DNA probably matters.</p><p>But there was a problem. Finding these hidden sentences across enormous genomes is difficult. Researchers needed to compare many genomes, identify conserved regions, and then determine which of those regions might have evolved unusually quickly in particular branches of the evolutionary tree.</p><p>Enter CNEwrap.&nbsp;https://github.com/YanCCscu/CNEwrap</p><p>The researchers developed CNEwrap as a streamlined toolkit capable of handling large-scale genome comparisons, conserved-element detection, and evolutionary analysis. Inside it is a new algorithm called EvoAcc, designed to identify CNEs that show accelerated evolution in specific species or lineages.</p><p>Why does that matter?</p><p>Because evolution isn't just about what stays the same.</p><p>Sometimes, the most interesting story is hidden in what changed.</p><p>Imagine that nearly every species carries the same regulatory sentence, but one lineage suddenly has several unusual edits. Perhaps those changes helped shape a new body structure, a different adaptation, or another distinctive trait.</p><p>EvoAcc is designed to help researchers find these evolutionary clues. In the study's tests, it performed particularly well in scenarios involving two or three accelerated lineages and showed improved sensitivity to insertion and deletion mutations compared with several existing approaches.</p><p>The researchers also tested CNEwrap using functional genomic regions from mammals and found that EvoAcc could recover human-specific accelerated regions while identifying some signals that other methods missed.</p><p>So the story of CNEwrap is really a story about looking beyond the obvious.</p><p>For decades, scientists have often focused on the DNA that directly encodes proteins. But the genome is more like a vast library: the protein-coding genes are the main text, while non-coding regions may contain punctuation, instructions, switches, annotations, and editing notes that tell the cell how to read the book.</p><p>CNEwrap gives researchers a new way to search that hidden material.</p><p>And perhaps somewhere inside those billions of DNA letters is an evolutionary story we haven't read yet.</p><p>The exciting part is that we now have better tools to find it.</p><p>Read more about it&nbsp;https://academic.oup.com/nar/article/54/14/gkag709/8738333?</p>]]></description>
	<dc:creator>LEGE</dc:creator>
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