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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/44373?offset=470</link>
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	<description><![CDATA[]]></description>
	
	<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44171/hairsplitter-assembling-long-reads-in-an-unknown-number-of-haplotypes</guid>
	<pubDate>Wed, 07 Dec 2022 00:13:40 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44171/hairsplitter-assembling-long-reads-in-an-unknown-number-of-haplotypes</link>
	<title><![CDATA[HairSplitter: assembling long reads in an unknown number of haplotypes]]></title>
	<description><![CDATA[<p>Pros and cons of HairSplitter Limitations of HairSplitter:</p>
<p>Not very fast: it re-polishes the whole assembly&nbsp;</p>
<p>Limited in the number of haplotypes</p>
<p>Strengths of HairSplitter:</p>
<p>Very modular, can be used with any assembler</p>
<p>Naive: makes no assumption on ploidy, parameter-free</p>
<p>Safe: won&rsquo;t artificially duplicate contigs</p>
<p>&nbsp;</p>
<p>HairSplitter splits collapsed assemblies from &ldquo;draft&rdquo; assemblies obtained by any means</p>
<p>HairSplitter can recover haplotypes and distinguish repeated elements</p>
<p>Only needs sequencing reads, potentially error-prone</p>
<p>HairSplitter splits collapsed assemblies from &ldquo;draft&rdquo; assemblies obtained by any means</p>
<p>HairSplitter can recover haplotypes and distinguish repeated elements</p>
<p>Only needs sequencing reads, potentially error-prone</p>
<p>Not really available yet (github.com/RolandFaure/HairSplitter)</p>
<p>https://hal.archives-ouvertes.fr/hal-03864075/file/RolandFaure_presentation_SeqBIM_2022.pdf</p><p>Address of the bookmark: <a href="https://hal.archives-ouvertes.fr/hal-03817928/document" rel="nofollow">https://hal.archives-ouvertes.fr/hal-03817928/document</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/27080/mrfast-micro-read-fast-alignment-search-tool</guid>
	<pubDate>Tue, 26 Apr 2016 03:50:06 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/27080/mrfast-micro-read-fast-alignment-search-tool</link>
	<title><![CDATA[mrFAST:  Micro Read Fast Alignment Search Tool]]></title>
	<description><![CDATA[<p><span>mrFAST is a read mapper that is designed to map short reads to reference genome with a special emphasis on the discovery of structural variation and segmental duplications. mrFAST maps short reads with respect to user defined error threshold, including indels up to 4+4 bp. This manual, describes how to choose the parameters and tune mrFAST with respect to the library settings. mrFAST is designed to find&nbsp;</span><strong><span style="text-decoration: underline;">'all'</span></strong><span>&nbsp; mappings for a given set of reads, however it can return one "best" map location if the relevant parameter is invoked.</span></p>
<p><span>More at&nbsp;http://mrfast.sourceforge.net/manual.html</span></p><p>Address of the bookmark: <a href="http://mrfast.sourceforge.net/manual.html" rel="nofollow">http://mrfast.sourceforge.net/manual.html</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/27839/lorma-a-tool-for-correcting-sequencing-errors-in-long-reads-such-those-produced-by-pacific-biosciences-sequencing-machines</guid>
	<pubDate>Wed, 15 Jun 2016 17:18:36 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/27839/lorma-a-tool-for-correcting-sequencing-errors-in-long-reads-such-those-produced-by-pacific-biosciences-sequencing-machines</link>
	<title><![CDATA[LoRMA: a tool for correcting sequencing errors in long reads such those produced by Pacific Biosciences sequencing machines]]></title>
	<description><![CDATA[<p>LoRMA is a tool for correcting sequencing errors in long reads such those produced by Pacific Biosciences sequencing machines.</p>
<p>Publication:</p>
<ul>
<li>L. Salmela, R. Walve, E. Rivals, and E. Ukkonen: Accurate selfcorrection of errors in long reads using de Bruijn graphs. Accepted to RECOMB-Seq 2016.</li>
</ul>
<p>Download:</p>
<ul>
<li><a href="https://www.cs.helsinki.fi/u/lmsalmel/LoRMA/LoRMA-0.3.tar.gz">LoRMA 0.3 source files</a></li>
<li><a href="https://www.cs.helsinki.fi/u/lmsalmel/LoRMA/README.txt">README</a></li>
</ul><p>Address of the bookmark: <a href="https://www.cs.helsinki.fi/u/lmsalmel/LoRMA/" rel="nofollow">https://www.cs.helsinki.fi/u/lmsalmel/LoRMA/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/30555/yaha</guid>
	<pubDate>Fri, 20 Jan 2017 05:38:05 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/30555/yaha</link>
	<title><![CDATA[YAHA]]></title>
	<description><![CDATA[<p>YAHA, a fast and flexible hash-based aligner. YAHA is as fast and accurate as BWA-SW at finding the single best alignment per query and is dramatically faster and more sensitive than both SSAHA2 and MegaBLAST at finding all possible alignments. Unlike other aligners that report all, or one, alignment per query, or that use simple heuristics to select alignments, YAHA uses a directed acyclic graph to find the optimal set of alignments that cover a query using a biologically relevant breakpoint penalty. YAHA can also report multiple mappings per defined segment of the query. We show that YAHA detects more breakpoints in less time than BWA-SW across all SV classes, and especially excels at complex SVs comprising multiple breakpoints.</p>
<p><strong>Availability:</strong> YAHA is currently supported on 64-bit Linux systems. Binaries and sample data are freely available for download from <a href="http://faculty.virginia.edu/irahall/YAHA" target="pmc_ext">http://faculty.virginia.edu/irahall/YAHA</a>.</p>
<p><strong>Contact:</strong></p>
<p>http://genome.wustl.edu/people/groups/detail/hall-lab/</p><p>Address of the bookmark: <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463118/" rel="nofollow">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463118/</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/35055/jabba-hybrid-error-correction-for-long-sequencing-reads</guid>
	<pubDate>Fri, 05 Jan 2018 03:58:14 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/35055/jabba-hybrid-error-correction-for-long-sequencing-reads</link>
	<title><![CDATA[Jabba: Hybrid Error Correction for Long Sequencing Reads]]></title>
	<description><![CDATA[<p>Jabba is a hybrid error correction tool to correct third generation (PacBio / ONT) sequencing data, using second generation (Illumina) data.</p>
<p>Input</p>
<p>Jabba takes as input a concatenated de Bruijn graph and a set of sequences:</p>
<p>the de Bruijn graph should appear in fasta format with 1 entry per node, the meta information should be in the format:<br>&gt;NODE <br>the set of sequences should be in fasta or fastq format. These sequences will be corrected (e.g. PacBio reads). The corrections will be written to a file Jabba fasta.<br>The output is a file in fasta format with corrections of the long reads, and additionally a file in the input format containing uncorrected reads.</p>
<p>https://github.com/biointec/jabba/wiki</p>
<p>https://almob.biomedcentral.com/articles/10.1186/s13015-016-0075-7</p><p>Address of the bookmark: <a href="https://github.com/biointec/jabba" rel="nofollow">https://github.com/biointec/jabba</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/43828/understanding-hifi-reads</guid>
	<pubDate>Thu, 24 Mar 2022 19:48:11 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/43828/understanding-hifi-reads</link>
	<title><![CDATA[Understanding HiFi Reads !]]></title>
	<description><![CDATA[<p><span>While little public data is available for either of the new synthetic long read approaches, Illumina showed an example comparison earlier this year at the&nbsp;</span><a href="https://www.festivalofgenomics.com/rami-mehio" target="_blank">Festival of Genomics &amp; Biodata conference</a><span>&nbsp;(FoG 2022). In the IGV screenshot presented (below), synthetic Infinity reads &ndash; labeled &ldquo;Longas&rdquo; &ndash; are at the top, followed by standard Illumina short reads, and PacBio HiFi reads labeled &ldquo;CCS&rdquo; depicted at the bottom:</span></p><p>Address of the bookmark: <a href="http://pacb.com/blog/the-hifi-difference-true-long-reads-vs-synthetic-long-reads/" rel="nofollow">http://pacb.com/blog/the-hifi-difference-true-long-reads-vs-synthetic-long-reads/</a></p>]]></description>
	<dc:creator>Rahul Nayak</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/44848/trust-but-verify-sequencing-your-cell-lines-might-reveal-an-uninvited-guest</guid>
	<pubDate>Wed, 04 Jun 2025 00:07:57 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/44848/trust-but-verify-sequencing-your-cell-lines-might-reveal-an-uninvited-guest</link>
	<title><![CDATA[Trust But Verify: Sequencing Your Cell Lines Might Reveal an Uninvited Guest]]></title>
	<description><![CDATA[<p>High-throughput sequencing has become indispensable in cell biology, enabling detailed insights into chromatin structure, gene expression, and regulatory dynamics. Yet, when faced with unexpectedly low mapping rates to the human genome, researchers often rush to troubleshoot technical parameters&mdash;sequencer quality, adapter trimming, or aligner settings.</p><p>Before you go down that path, consider this critical biological question:<br /> <strong>Are you sequencing human cells&mdash;or bacterial contamination?</strong></p><h2>The Silent Saboteur: Mycoplasma in Cell Cultures</h2><p><em>Mycoplasma</em> contamination remains one of the most widespread and underdiagnosed issues in tissue culture work. Studies suggest that <strong>15&ndash;35% of cell lines in use may be contaminated</strong>, often without visible signs. Unlike other microbial infections, <em>Mycoplasma</em> does not produce cloudiness, odor, or a change in pH. Many researchers won&rsquo;t detect it unless they specifically test for it.</p><p>The consequences, however, are profound. <em>Mycoplasma</em> can significantly alter:</p><ul>
<li>
<p>Host gene expression patterns</p>
</li>
<li>
<p>Cell proliferation rates</p>
</li>
<li>
<p>Epigenetic profiles and chromatin accessibility</p>
</li>
<li>
<p>Cytokine signaling and immune responses</p>
</li>
</ul><p>In short, it can skew your results, compromise your biological conclusions, and invalidate weeks or months of research.</p><h2>A Simple Diagnostic Step: Map Against <em>Mycoplasma</em> Genomes</h2><p>If you encounter poor alignment rates to the human genome, consider mapping your reads to a <em>Mycoplasma</em> reference genome&mdash;or better yet, use a <strong>combined human + <em>Mycoplasma</em></strong> reference. There have been cases where over half of all reads, initially assumed to be from human cells, were in fact bacterial in origin. This check is fast, easy, and could save your project.</p><h2>How Contamination Happens&mdash;and Persists</h2><p><em>Mycoplasma</em> is small (0.1&ndash;0.3 &mu;m), lacks a cell wall, and can pass through standard filters undetected. Common sources include:</p><ul>
<li>
<p>Contaminated reagents (e.g., FBS)</p>
</li>
<li>
<p>Infected cell lines obtained from other labs</p>
</li>
<li>
<p>Poor aseptic technique or shared equipment</p>
</li>
</ul><p>Once present, it spreads quickly between cultures and can persist for months, silently affecting results.</p><h2>Why Treatment Is Difficult</h2><p>While antibiotics such as Plasmocin or BM-Cyclin are sometimes used, they often offer only partial resolution and may themselves alter cell behavior. In many cases, the best course of action is to <strong>discard the contaminated culture</strong> and start with a fresh, verified stock.</p><h2>Practical Recommendations for Researchers</h2><ul>
<li>
<p><strong>Routinely test for <em>Mycoplasma</em></strong> using PCR, qPCR, or fluorescence-based assays</p>
</li>
<li>
<p><strong>Incorporate contamination screens into your sequencing QC pipeline</strong></p>
</li>
<li>
<p><strong>Use combined reference genomes</strong> when mapping ambiguous reads</p>
</li>
<li>
<p><strong>Practice strict aseptic technique</strong> and monitor all incoming cell lines</p>
</li>
<li>
<p><strong>Don&rsquo;t ignore unexplained data anomalies</strong>&mdash;they might point to contamination</p>
</li>
</ul><h2>Closing Thought: Contamination Is a Biological Variable</h2><p>It&rsquo;s easy to view poor mapping as a technical issue, but sometimes the problem lies deeper&mdash;in the biology itself. <em>Mycoplasma</em> contamination doesn&rsquo;t just interfere with sequencing; it interferes with science. As a research community, we must treat contamination not as an afterthought, but as a key variable to control.</p><p>So next time your reads won&rsquo;t align, don&rsquo;t just tune the aligner. Ask if your cells are telling the truth&mdash;or if they're hiding something.</p>]]></description>
	<dc:creator>LEGE</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/36621/hapcut2-robust-and-accurate-haplotype-assembly-for-diverse-sequencing-technologies</guid>
	<pubDate>Tue, 15 May 2018 07:35:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/36621/hapcut2-robust-and-accurate-haplotype-assembly-for-diverse-sequencing-technologies</link>
	<title><![CDATA[HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies]]></title>
	<description><![CDATA[HapCUT2 is a maximum-likelihood-based tool for assembling haplotypes from DNA sequence reads, designed to "just work" with excellent speed and accuracy. We found that previously described haplotype assembly methods are specialized for specific read technologies or protocols, with slow or inaccurate performance on others. With this in mind, HapCUT2 is designed for speed and accuracy across diverse sequencing technologies, including but not limited to:

NGS short reads (Illumina HiSeq)
clone-based sequencing (Fosmid or BAC clones)
SMRT reads (PacBio)
Oxford Nanopore reads
10X Genomics Linked-Reads
proximity-ligation (Hi-C) reads
high-coverage sequencing (&gt;40x coverage-per-SNP) using above technologies
combinations of the above technologies (e.g. scaffold long reads with Hi-C reads)
See below for specific examples of command line options and best practices for some of these technologies.

NOTE: At this time HapCUT2 is for diploid organisms only. VCF input should contain diploid variants.

If you use HapCUT2 in your research, please cite:

Edge, P., Bafna, V. &amp; Bansal, V. HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies. Genome Res. gr.213462.116 (2016). doi:10.1101/gr.213462.116<p>Address of the bookmark: <a href="https://github.com/vibansal/HapCUT2" rel="nofollow">https://github.com/vibansal/HapCUT2</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/37291/transrate-understanding-your-transcriptome-assembly</guid>
	<pubDate>Fri, 13 Jul 2018 07:49:26 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/37291/transrate-understanding-your-transcriptome-assembly</link>
	<title><![CDATA[transrate: Understanding your transcriptome assembly]]></title>
	<description><![CDATA[<p><span>Transrate is software for&nbsp;</span><em>de-novo</em><span>&nbsp;transcriptome assembly quality analysis. It examines your assembly in detail and compares it to experimental evidence such as the sequencing reads, reporting quality scores for contigs and assemblies. This allows you to choose between assemblers and parameters, filter out the bad contigs from an assembly, and help decide when to stop trying to improve the assembly.</span></p><p>Address of the bookmark: <a href="http://hibberdlab.com/transrate/index.html" rel="nofollow">http://hibberdlab.com/transrate/index.html</a></p>]]></description>
	<dc:creator>Neel</dc:creator>
</item>
<item>
	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/38505/allhic-phasing-and-scaffolding-polyploid-genomes-based-on-hi-c-data</guid>
	<pubDate>Thu, 20 Dec 2018 12:03:32 -0600</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/38505/allhic-phasing-and-scaffolding-polyploid-genomes-based-on-hi-c-data</link>
	<title><![CDATA[ALLHiC: Phasing and scaffolding polyploid genomes based on Hi-C data]]></title>
	<description><![CDATA[<p><span>The major problem of scaffolding polyploid genome is that Hi-C signals are frequently detected between allelic haplotypes and any existing stat of art Hi-C scaffolding program links the allelic haplotypes together. To solve the problem, we developed a new Hi-C scaffolding pipeline, called ALLHIC, specifically tailored to the polyploid genomes. ALLHIC pipeline contains a total of 5 steps:&nbsp;</span><em>prune</em><span>,&nbsp;</span><em>partition</em><span>,&nbsp;</span><em>rescue</em><span>,&nbsp;</span><em>optimize</em><span>&nbsp;and&nbsp;</span><em>build</em><span>.</span></p><p>Address of the bookmark: <a href="https://github.com/tangerzhang/ALLHiC/wiki" rel="nofollow">https://github.com/tangerzhang/ALLHiC/wiki</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
</item>

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