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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/31375?offset=410</link>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/news/view/11144/scientists-map-17294-proteins-produced-in-human-body</guid>
	<pubDate>Thu, 29 May 2014 01:57:55 -0500</pubDate>
	<link>https://bioinformaticsonline.com/news/view/11144/scientists-map-17294-proteins-produced-in-human-body</link>
	<title><![CDATA[Scientists map 17,294 proteins produced in human body]]></title>
	<description><![CDATA[<p>Indian scientists missed the genomic profiling bus, but they've more than made up for it by creating the first human proteome map which is an extension of the genomic study. Till now, here is no direct equivalent for the human proteome. But recently two groups present mass spectrometry-based analysis of human tissues, body fluids and cells mapping the large majority of the human proteome.</p><p>The Indian scientists working in Bangalore, along with their American counterparts, have mapped more than 17,000 proteins in 30 organs of the human body. Just like the human genome was sequenced around the turn of the millennium, this is an equivalent mapping of the human proteome.<br /><br />The researcher estimated there are around 20,500 proteins in the human body. These scientists have profiled around 17,294, which account for around 84% of the total proteins. Apart from this, the team also traced around 2,500 of 3,000 proteins that had been categorised as "missing proteins".</p><p>The work, done by group of Indian scientists, and Johns Hopkins University, published in the renowned journal Nature ( http://www.nature.com/nature/journal/v509/n7502/full/nature13302.html ). Of the 72 people who worked on the project, 46 are Indians.</p><p>Reference:</p><p>http://www.nature.com/nature/journal/v509/n7502/full/nature13302.html</p><p>http://www.proteinatlas.org/ -The antibody-based Human Protein Atlas programme</p><p>http://www.humanproteomemap.org/ -Proteogenomic analysis by identifying translated proteins from annotated pseudogenes, non-coding RNAs and untranslated regions.</p><p>https://www.proteomicsdb.org/ -Assembled protein evidence for 18,097 genes in ProteomicsDB</p><p>&nbsp;</p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/45358/the-variant-everyone-ignored</guid>
	<pubDate>Mon, 05 Oct 2026 12:14:20 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/45358/the-variant-everyone-ignored</link>
	<title><![CDATA[The Variant Everyone Ignored]]></title>
	<description><![CDATA[<p>Consider a scenario in which a patient's genome has been sequenced. Among billions of DNA bases, a structural alteration may explain the patient's disease. Multiple advanced algorithms analyze the data, yet only one detects the variant, while the others do not. In standard bioinformatics workflows, such a solitary result is often regarded as unreliable and subsequently discarded. Although the solution exists within the data, prevailing computational protocols may overlook it.</p><p>A recent study published in Genome Biology (https://link.springer.com/article/10.1186/s13059-026-04280-y) addressed this challenge by introducing dicast (https://github.com/burgshrimps/dicast), a machine-learning approach for detecting structural variants in short-read sequencing data. Structural variants, such as large deletions, insertions, duplications, and inversions, can have significant biological and clinical implications, yet they are challenging to identify with short-read technologies. Because different detection methods frequently yield divergent results, researchers commonly employ consensus calling, considering a variant valid only if multiple tools detect it. While this approach reduces false positives, it relies on the potentially flawed assumption that the majority is always correct.</p><p>The researchers explored the impact of evaluating the supporting evidence for each variant, rather than simply tallying the number of algorithms that identified it. To establish a ground truth, they analyzed nine genomes using multiple sequencing technologies and 15 detection methods, initially identifying approximately 35 million potential variants. Through extensive filtering, evidence integration, and manual review of over 11,500 variants, they developed a robust benchmark comprising more than 236,000 structural variants. The findings underscored the complexity of the problem: short-read methods detected fewer than half of deletions and less than 10 percent of insertions, with performance declining markedly in repetitive genomic regions. In contrast, long-read technologies demonstrated superior detection capabilities. However, replacing the substantial volume of existing short-read data in clinical and research settings is not immediately feasible. Consequently, the researchers questioned whether short-read data might harbor more information than conventional analytical pipelines currently extract.</p><p>This line of inquiry led to the development of dicast. Rather than merely confirming agreement among multiple tools, dicast identifies patterns in sequencing data, including split and clipped reads, discordant read pairs, alignment characteristics, and the surrounding genomic context. An XGBoost machine-learning model evaluates which combinations of these signals are indicative of genuine structural variants. Thus, the approach shifts from tallying algorithmic consensus to interpreting the underlying evidence.</p><p>The researchers subsequently conducted a targeted evaluation by examining structural variants detected by only a single short-read tool, which are typically missed by consensus-based approaches. dicast successfully recovered approximately 81% of these single-caller deletions, insertions, and duplications. The signals for these variants were present in the data, but conventional filtering methods failed to integrate them effectively.</p><p>The utility of dicast was further demonstrated in cohorts with rare diseases, including congenital limb malformations, atrial fibrillation, and neuromuscular disorders. In one instance, dicast achieved a deletion recall rate of approximately 0.96, compared to 0.74 using consensus calling. The median number of variants requiring manual review was 29 per sample. Among 31 experimentally validated variants that standard filters would have missed, dicast identified 12, whereas consensus calling detected only one.</p><p>Overall, dicast identified approximately 20 percent more potential disease-causing deletions than consensus-based methods. While a 20 percent increase may appear modest, in clinical genomics such improvements can have significant practical implications. Missing a deletion may leave a case unresolved, whereas detecting a structural variant can provide critical diagnostic insights.</p><p>The study does not claim that machine learning has rendered short-read sequencing superior to long-read approaches. Instead, the results underscore the effectiveness of long-read sequencing for structural variant detection. However, dicast highlights a more nuanced perspective: substantial biological information may still be recoverable from the extensive short-read datasets already available.</p><p>The principal lesson extends beyond the detection of structural variants. For many years, bioinformatics pipelines have relied on threshold-based criteria, such as minimum coverage, quality scores, or support from multiple tools. While these rules are useful, biological phenomena do not always conform to rigid checklists; multiple weak signals, when considered collectively, can provide compelling evidence.</p><p>This perspective prompts consideration of the solitary variant: one algorithm identifies it, while several others do not. Traditional consensus techniques might have dismissed it, yet machine learning approaches evaluate the available evidence to determine whether the variant is plausible.</p><p>Occasionally, the most significant variant within a genome is the one that is almost universally overlooked.</p><p>Read more at&nbsp;https://link.springer.com/article/10.1186/s13059-026-04280-y</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/41893/sunbeam-a-robust-extensible-metagenomics-pipeline</guid>
	<pubDate>Thu, 18 Jun 2020 06:58:52 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/41893/sunbeam-a-robust-extensible-metagenomics-pipeline</link>
	<title><![CDATA[sunbeam: A robust, extensible metagenomics pipeline]]></title>
	<description><![CDATA[<p><span>Sunbeam is a pipeline written in&nbsp;</span><a href="http://snakemake.readthedocs.io/">snakemake</a><span>&nbsp;that simplifies and automates many of the steps in metagenomic sequencing analysis. It uses&nbsp;</span><a href="http://conda.io/">conda</a><span>&nbsp;to manage dependencies, so it doesn't have pre-existing dependencies or admin privileges, and can be deployed on most Linux workstations and clusters. To read more, check out&nbsp;</span><a href="https://microbiomejournal.biomedcentral.com/articles/10.1186/s40168-019-0658-x">our paper in Microbiome</a><span>.</span></p>
<p><span><a href="https://sunbeam.readthedocs.io/en/latest/">https://sunbeam.readthedocs.io/en/latest/</a></span></p><p>Address of the bookmark: <a href="https://github.com/sunbeam-labs/sunbeam" rel="nofollow">https://github.com/sunbeam-labs/sunbeam</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/11354/genomics-and-personalized-medicine</guid>
	<pubDate>Sun, 01 Jun 2014 23:38:42 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/11354/genomics-and-personalized-medicine</link>
	<title><![CDATA[Genomics and Personalized Medicine]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/pgHAXCMMcro" frameborder="0" allowfullscreen></iframe>(October 20, 2009) Michael Snyder, Professor of Genetics and Chair of the Department of Genetics at Stanford, discusses advances in gene sequencing, the impact of genomics on medicine, the potential for personalized medicine. and efforts at Stanford to further study these issues.

Stanford Mini Med School is a series arranged and directed by Stanford's School of Medicine, and presented by the Stanford Continuing Studies program. Featuring more than thirty distinguished, faculty, scientists and physicians from Stanford's medical school, the series offers students a dynamic introduction to the world of human biology, health and disease, and the groundbreaking changes taking place in medical research and health care.

Stanford University
http://www.stanford.edu

Stanford University School of Medicine
http://med.stanford.edu

Stanford Continuing Studies
http://continuingstudies.stanford.edu

Stanford University Channel on YouTube:
http://www.youtube.com/stanford]]></description>
	
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/44587/lorikeet-strain-resolver-for-metagenomics</guid>
	<pubDate>Sat, 06 Jul 2024 04:21:31 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/44587/lorikeet-strain-resolver-for-metagenomics</link>
	<title><![CDATA[Lorikeet: Strain resolver for metagenomics]]></title>
	<description><![CDATA[<p><span>Lorikeet is a within-species variant analysis pipeline for metagenomic communities that utilizes both long and short reads. Lorikeet utilizes a re-implementaion of the GATK HaplotypeCaller algorithm, performing local re-assembly of potentially active regions within candidate genomes. Called variants can be clustered into likely strains using a combination of UMAP and HDBSCAN.</span></p>
<p><span><img src="https://github.com/rhysnewell/Lorikeet/raw/master/docs/_include/images/lorikeet_logo.png" alt="image" style="border: 0px;"></span></p><p>Address of the bookmark: <a href="https://github.com/rhysnewell/Lorikeet" rel="nofollow">https://github.com/rhysnewell/Lorikeet</a></p>]]></description>
	<dc:creator>BioStar</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/11434/adhoc-bioinformatics-faculty-position-nit</guid>
  <pubDate>Tue, 03 Jun 2014 16:19:52 -0500</pubDate>
  <link></link>
  <title><![CDATA[Adhoc Bioinformatics Faculty Position @ NIT]]></title>
  <description><![CDATA[
<p>NATIONAL INSTITUTE OF TECHNOLOGY, DEPARTMENT OF BIOTECHNOLOGY, WARANGAL – 506 021, Andhra Pradesh</p>

<p>No.NITW/BT/2014/adhoc</p>

<p>APPLICATIONS ARE INVITED FOR THE APPOINTMENT OF ADHOC FACULTY ON CONTRACT BASIS IN THE DEAPARTMENT OF BIOTECHNOLOGY</p>

<p>Period of Contract: Initially the appointment is for one semester i.e., from July 2014 up to December 2014 only.</p>

<p>Essential Qualifications:</p>

<p>i) B. Tech or equivalent in Biotechnology/ Industrial Biotechnology/ Biochemical Engineering / Chemical Engg. Or M. Sc in Microbiology/ Botany/ Zoology/ Biochemistry/Biotechnology and ii) M. Tech or equivalent in Biotechnology/Industrial Biotechnology/Bioinformatics</p>

<p>Or</p>

<p>Integrated M. Tech in Biotechnology/Industrial Biotechnology/ Bioinformatics</p>

<p>Candidates must possess First class (60% aggregate marks or 6.5 CGPA) at B. Tech/ M. Sc and M. Tech.</p>

<p>Desirable: Ph. D Pay Package: All selected candidates shall be eligible for a consolidated pay of Rs.30, 000/- per month. Candidates with Ph. D shall be eligible for an additional amount of Rs.5, 000/- per month.</p>

<p>How to apply : Applications on plain paper with attested photocopies of certificate and bio data along with justification for eligibility should reach to the Head, Department of Biotechnology, National Institute of Technology, Warangal AP 506004 in the form of soft or hard copy on or before 21st June 2014 email : biotech_hod@nitw.ac.in</p>

<p>Intimation: No separate call letters will be sent to the candidates. All the eligible candidates will be notified in the institute web site on 23rd June 2014. All the eligible candidates are requested to report for the interview to the Head, Department of Biotechnology at 9:00 AM on 27th June 2014</p>

<p>Joining: Selected candidates will be informed and they are expected to join immediately.</p>

<p>Advertisement:</p>

<p>http://www.nitw.ac.in/nitw/announcements/2014/Bio-Adhoc%20Advt.%20May-2014.pdf</p>
]]></description>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/40771/coordinator-of-bioinformatics-core-facility-robert-koch-institute-berlin</guid>
  <pubDate>Thu, 30 Jan 2020 07:01:45 -0600</pubDate>
  <link></link>
  <title><![CDATA[Coordinator of Bioinformatics Core Facility-Robert Koch Institute Berlin]]></title>
  <description><![CDATA[
<p>We are offering the following position in unit MF 1 "Bioinformatics" of department MF "Methodology and Research Infrastructure" for a</p>

<p>Coordinator of our Bioinformatics Core Facility (all genders)</p>

<p>(salary dependent on qualifications and experience in accordance with public sector wage scale [TVöD] up to grade E 14).</p>

<p>The contract is not limited. The position will be available immediately.<br />https://www.researchgate.net/job/938589_Coordinator_of_our_Bioinformatics_Core_Facility_all_genders</p>
]]></description>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/11656/faculty-post-at-zhejiang-university</guid>
  <pubDate>Tue, 10 Jun 2014 03:40:40 -0500</pubDate>
  <link></link>
  <title><![CDATA[Faculty post at Zhejiang University]]></title>
  <description><![CDATA[
<p>Zhejiang University (ZJU) is seeking faculty candidates for its newly launched, highly competitive and well funded “Hundred Talents Program”. This search covers all colleges and departments at ZJU. Applicants, expected to be about 35 years old, should hold PhD degree, and postdoctoral experiences are preferred for applicants in most fields. Applicants should have demonstrated commitment to excellence in teaching and research at a level comparable to the academic achievement of assistant professor or associate professor in world-renowned universities. Successful candidates must work full-time and are expected to establish internationally competitive and independent research program in cutting-edge areas of the relevant field at ZJU.</p>

<p>As one of the leading research-intensive universities in China, ZJU is located in the beautiful city of Hangzhou. Successful candidates will be employed as Principal Investigators and are qualified to supervise doctoral students. ZJU will offer an internationally competitive salary and the opportunity to purchase university's apartment at a price much lower than the market price, and will provide office and laboratory spaces as well as internationally competitive research startup packages.</p>

<p>Qualified applicants are strongly encouraged to submit their applications electronically to tr@zju.edu.cn. Applicants should include the following materials in pdf format: a comprehensive CV, a statement of research and teaching plan, and a list of 3 to 5 references with detailed contact information.</p>

<p>Contact：Talents Office, ZJU</p>

<p>Tel：+86-571-88981345, +86-571-88981390</p>

<p>Fax：+86-571-88981976</p>

<p>E-mail:tr@zju.edu.cn</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/11592/xampp-starting-apache-fail-ubuntu</guid>
	<pubDate>Sat, 07 Jun 2014 05:52:35 -0500</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/11592/xampp-starting-apache-fail-ubuntu</link>
	<title><![CDATA[XAMPP: Starting Apache fail Ubuntu]]></title>
	<description><![CDATA[<p>Once you install XAMMP on linux, the most common problem you face is Apache failure. To fix the issues please use following command to first stop and then again start it.</p><p>sudo /etc/init.d/apache2 stop</p><p>sudo /etc/init.d/mysql stop</p><p>sudo /etc/init.d/proftpd stop</p><p>sudo /opt/lampp/lampp start</p><p>&nbsp;</p><p><strong>PhpMyAdmin &ldquo;Wrong permissions on configuration file, should not be world writable!&rdquo;</strong></p><p>Once the Xammp is installed, it might be possible to set up the configuration file in writable mode. Try the following steps:</p><p>Just chmod 0755 the file</p><pre>sudo chmod 0755 config.inc.php</pre>]]></description>
	<dc:creator>Ram Yash Pal</dc:creator>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/videolist/watch/12288/genomic-medicine-bruce-korf-2014</guid>
	<pubDate>Tue, 24 Jun 2014 07:58:44 -0500</pubDate>
	<link>https://bioinformaticsonline.com/videolist/watch/12288/genomic-medicine-bruce-korf-2014</link>
	<title><![CDATA[Genomic Medicine - Bruce Korf (2014)]]></title>
	<description><![CDATA[<iframe width="" height="" src="https://www.youtube-nocookie.com/embed/FYldIrsXHKw" frameborder="0" allowfullscreen></iframe>May 21, 2014 - Current Topics in Genome Analysis 2014
A lecture series covering contemporary areas in genomics and bioinformatics. More: http://www.genome.gov/COURSE2014]]></description>
	
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