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	<title><![CDATA[BOL: Related items]]></title>
	<link>https://bioinformaticsonline.com/related/27440?offset=950</link>
	<atom:link href="https://bioinformaticsonline.com/related/27440?offset=950" rel="self" type="application/rss+xml" />
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/38815/research-opening-ibab-bengaluru</guid>
  <pubDate>Mon, 28 Jan 2019 17:45:54 -0600</pubDate>
  <link></link>
  <title><![CDATA[Research opening @ IBAB, Bengaluru]]></title>
  <description><![CDATA[
<p>Applications are invited for the position of Project Assistant in Bio-IT centre at IBAB, Electronic city, Bengaluru. The successful candidate will work in the next-generation sequencing (NGS) facility to perform nucleic acid isolations, quality and quantity analyses, NGS library preparations, and maintenance of sequencing related instruments and other related lab equipment. In addition, the candidate is expected to assist in various administrative matters including procurement, maintaining inventory of laboratory consumables etc. The person will have opportunity to get expertise in entire pipeline of NGS. After sufficient training, the person will act as a demonstrator in the workshops conducted by Bio-IT centre.<br />Essential Qualifications, Experiences, and Skills:</p>

<p>1. MSc. or B. Tech. or equivalent degree in Biotechnology or related life sciences discipline.<br />2. Strong aptitude for laboratory work and should be detail-oriented person.<br />3. Hands-on experience in basic molecular biology techniques.<br />4. Prior experience in working in a research laboratory or industry.<br />5. Basic IT skills that include familiarity with Microsoft Office packages.<br />6. Ability to carry out basic maintenance of general lab equipments and laboratory resources.<br />7. Ability to maintain accurate records of laboratory work.<br />8. Willingness to learn, and should be a team player.<br />Desirable Experience and Skills:<br />1. Familiarity with NGS technology.<br />2. Experience in preparation of NGS libraries.<br />3. Familiarity with Sanger sequencing technology (capillary electrophoresis based)</p>

<p>Remuneration: Remuneration will commensurate with expertise and experience.</p>

<p>How to Apply: Interested applicants fulfilling the criteria may send their detailed CV and a cover letter that explains their suitability for this position, in a single PDF, to Dr. Sreekanth Reddy at careers_bioit@ibab.ac.in. Last date for submission of application is 23rd February 2019. Please mention the position applying for in the subject line of the email.</p>

<p>About IBAB: The Bio-IT Centre at IBAB has state-of-art sequencing facility with the HiSeq 2500 and accessories such as Qubit, Covaris, Agilent 2200 TapeStation, Stratagene Mx 3000 for next generation sequencing, 3500 Dx Genetic Analyzer for capillary electrophoresis based sequencing, and HiScan for microarray imaging. The facility is fully operational and providing services to the scientific community. The Institute of Bioinformatics and Applied Biotechnology (IBAB) is a unique institute engaged in education, research and entrepreneur support programs and is based at Electronic City, Bangalore. IBAB’s mission is to catalyze the growth of the biotechnology and bioinformatics industries in India. To know more please visit: http://www.ibab.ac.in/index.php/bioit/</p>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/14758/phd-opportunity-at-universite-de-liege-belgium</guid>
  <pubDate>Mon, 01 Sep 2014 17:16:22 -0500</pubDate>
  <link></link>
  <title><![CDATA[PhD opportunity at Université de Liège - Belgium]]></title>
  <description><![CDATA[
<p>The Bioinformatics and Systems Biology Unit of Université de Liège (Belgium) is looking for a highly motivated master student with programming skills for a PhD thesis project (4 years, fully funded) with the goal of designing computational tools that use literature, genomic and structural data in order to infer regulatory and metabolic networks.  </p>

<p>Applicants are invited to send their resume and a recommendation letter to Prof. Patrick Meyer (more details at   www.biosys.ulg.ac.be )</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/40208/ragoo-fast-reference-guided-scaffolding-of-genome-assembly-contigs</guid>
	<pubDate>Sun, 27 Oct 2019 00:57:23 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/40208/ragoo-fast-reference-guided-scaffolding-of-genome-assembly-contigs</link>
	<title><![CDATA[RaGOO: Fast Reference-Guided Scaffolding of Genome Assembly Contigs]]></title>
	<description><![CDATA[<p>Alonge M, Soyk S, Ramakrishnan S, Wang X, Goodwin S, Sedlazeck FJ, Lippman ZB, Schatz MC:&nbsp;<a href="https://www.biorxiv.org/content/early/2019/01/13/519637">Fast and accurate reference-guided scaffolding of draft genomes</a>.&nbsp;<em>bioRxiv</em>&nbsp;2019.</p>
<p>RaGOO is a tool for coalescing genome assembly contigs into pseudochromosomes via minimap2 alignments to a closely related reference genome. The focus of this tool is on practicality and therefore has the following features:</p>
<ol>
<li>Good performance. On a MacBook Pro using Arabidopsis data, pseudochromosome construction takes less than a minute and the whole pipeline with SV calling takes ~2 minutes.</li>
<li>Intact ordering and orienting of contigs.</li>
<li><a href="https://github.com/malonge/RaGOO/wiki/Misassembly-Correction">Misassembly correction</a></li>
<li><a href="https://github.com/malonge/RaGOO/wiki/GFF-File-Lift-Over">GFF lift-over</a></li>
<li><a href="https://github.com/malonge/RaGOO/wiki/Calling-Structural-Variants">Structural variant calling with and integrated version of Assemblytics</a></li>
<li>Confidence scores associated with the grouping, localization, and orientation for each contig.</li>
</ol><p>Address of the bookmark: <a href="https://github.com/malonge/RaGOO" rel="nofollow">https://github.com/malonge/RaGOO</a></p>]]></description>
	<dc:creator>Jit</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/14905/internship-in-computational-biology</guid>
  <pubDate>Thu, 04 Sep 2014 04:19:40 -0500</pubDate>
  <link></link>
  <title><![CDATA[Internship in Computational Biology]]></title>
  <description><![CDATA[
<p>We are looking for a motivated and autonomous intern to study gene expression in hybrid organisms. The student will work on natural hybrids of two or three different species of fungal endosymbionts of grasses. The pupose of this project is to build software allowing us to identify the genomic origin of expressed genes. To do that, the intern will have to analyze expression data (from RNA-seq) to find SNPs on the sequenced mRNAs allowing to identify from which of the parental genome the expressed gene come from. The data will have to be saved in a database using the standard BioSQL schema.</p>

<p>This job will allow the intern to become more familiar with new biological and bioinformatics tools like next generation sequencing, RNA-Seq data analysis and comparative genomics.</p>

<p>To apply for this position, send the following documents (in PDF format) to Dr Pierre-Yves Dupont (email p.y.dupont@massey.ac.nz):</p>

<p>1. A short cover letter.<br />2. A curriculum vitae, with transcript details.<br />3. The names and contact details of two referees willing to provide a confidential letter of recommendation upon request.</p>

<p>Informal enquiries are welcome. Formal applications are due by Sunday 2nd December 2012.<br />Requirements: </p>

<p>This position requires a good understanding of genetic problems, a good command of at least one scripting language (Perl, Python...), a basic knowledge of MySQL or any relational database management system. Knowledge in biological programming libraries (BioPython, BioPerl, BioRuby...), Java, C++ or any compiled language is an asset but not required. Undergraduate or Master degree is required.<br />Contact Information: </p>

<p>Dr. Pierre-Yves Dupont<br />Institute of Molecular BioSciences<br />Massey University<br />Private Bag 11 222<br />Palmerston North 4442<br />NEW ZEALAND</p>

<p>http://massey.genomicus.com/<br />p.y.dupont@massey.ac.nz</p>

<p>Information about the Institute of Molecular BioSciences (http://imbs.massey.ac.nz/) and the Computational Biology Research Group (http://massey.genomicus.com/) is available online. For more information about the position, you can contact Dr Pierre-Yves Dupont (email p.y.dupont@massey.ac.nz).</p>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/40770/scientist-bioinformatics-positions</guid>
  <pubDate>Thu, 30 Jan 2020 06:53:40 -0600</pubDate>
  <link></link>
  <title><![CDATA[Scientist Bioinformatics Positions]]></title>
  <description><![CDATA[
<p>Bioinformatics-Multi_Omics_Integration</p>

<p>https://www.researchgate.net/job/939073_Senior_Scientist_Bioinformatics-Multi_Omics_Integration</p>

<p> <br />Senior_Scientist_Bioinformatics-Transcriptomics_Analysis     </p>

<p>https://www.researchgate.net/job/939075_Senior_Scientist_Bioinformatics-Transcriptomics_Analysis-Belgium_France_Switzerland_The_Netherlands</p>

<p>Senior Scientist Bioinformatics - Network Analytics</p>

<p>https://www.researchgate.net/job/939070_Senior_Scientist_Bioinformatics-Network_Analytics_Belgium_France_Switzerland_the_Netherlands</p>

<p>Team Leader Bioinformatics Data Sciences - Mechelen, Belgium</p>

<p>https://www.researchgate.net/job/938787_Team_Leader_Bioinformatics_Data_Sciences-Mechelen_Belgium</p>
]]></description>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/16158/bioinformatics-position-at-irccs-casa-sollievo-della-sofferenza</guid>
  <pubDate>Wed, 10 Sep 2014 14:25:34 -0500</pubDate>
  <link></link>
  <title><![CDATA[Bioinformatics position at IRCCS Casa Sollievo della Sofferenza]]></title>
  <description><![CDATA[
<p>The bioinformatics unit at IRCCS Casa Sollievo della Sofferenza - Mendel laboratory in Rome is looking for one young bioinformatician with specific experience and/or interest in the analysis of genomics and transcriptomic data.</p>

<p>The candidate will be mainly in charge of developing research on Gene Expression/SNP Arrays data, NGS whole -exome and -transcriptome datasets and biological networks in the contexts of genetic diseases, innovative therapies and regenerative medicine. Main activities will be: (i) data analysis (short-reads mapping, genomics aberrations discovery and annotation, variants pathogenicity detection); (ii) functional/pathway enrichment analysis; (iii) biological networks analysis (artificial knockout, redundancy and lethality analysis, gene set essentiality); (iv) developing of ad-hoc software solutions/routines on clusters of CPUs and GPUs.</p>

<p>The correct cultural background (training in Biology / Computer Science / Statistics or a mix of the three) and a strong interest in working in high throughput data analysis will be considered at the same level of specific experience in the above-mentioned fields.</p>

<p>Knowledge of molecular modeling and simulation and willingness to learn one or more of these languages: python, perl, R, Java, C++, C# is a golden plus. Good knowledge of Scientific English will be positively evaluated for this position, together with good presentation and teamwork skills.</p>

<p>Candidates should send:<br />• a cover letter explaining the role they would like to undertake within the Center, even if it is not listed in this job adv, stating clearly why they would be a good fit to the proposed role, and what they would bring to the Center in terms of expertise, ideas, talent;<br />• a CV including a list of publications;<br />• List of referees.</p>

<p>A CV with one professional reference, details on educational background and of the biological and/or bioinformatic and/or data analysis skills and experience should be sent by email for a preliminary selection to: Tommaso Mazza t.mazza@css-mendel.it</p>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/blog/view/42329/10-ngs-services-companies-around-the-globe</guid>
	<pubDate>Sun, 22 Nov 2020 23:56:17 -0600</pubDate>
	<link>https://bioinformaticsonline.com/blog/view/42329/10-ngs-services-companies-around-the-globe</link>
	<title><![CDATA[10 NGS services companies around the globe !]]></title>
	<description><![CDATA[<p><strong>The global&nbsp;NGS services market&nbsp;is expected to reach USD 13.1 billion by 2025.&nbsp;</strong>Here are the&nbsp;<strong style="font-size: 12.8px;">top 10 NGS services companies to look for &ndash;</strong></p><p><strong>1.&nbsp;<a href="https://www.illumina.com/">Illumina, Inc. (U.S.)</a></strong></p><p>Illumina, Inc. was founded in 1998 and is headquartered at San Diego, U.S. Illumina, Inc. is one of the leading players in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. The company offers products for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. The company serves government laboratories, genomic research centers, academics institutions as well as pharmaceutical, biotechnology, agrigenomics, commercial molecular diagnostics laboratories and consumer genomics companies. Illumina, Inc. has its geographic presence in North America, Europe, Latin America, Asia-pacific, and others.</p><p><strong>2.&nbsp;<a href="https://www.qiagen.com/us/">QIAGEN N.V. (Netherlands)</a></strong></p><p>QIAGEN N.V. was incorporated in 1986 and is headquartered at Venlo, The Netherlands. The Company is engaged in providing Sample to Insight solutions that transform biological samples into molecular insights. QIAGEN provides its workflow to customers in molecular diagnostics, assay technologies, bioservices and automation systems.&nbsp; The company&rsquo;s genome services are suitable for custom/tailored projects that allow access to genomic sequence information.&nbsp; The Company market its products in more than 100 countries across the Americas, Europe, Asia, Australia, and the Middle-East &amp;Africa through its subsidiaries and channel partners.</p><p><strong>3.&nbsp;<a href="https://www.perkinelmer.com/">PerkinElmer, Inc. (U.S.)</a></strong></p><p>PerkinElmer, Inc. was founded in 1947 and is headquartered in Waltham, Massachusetts, the U.S. PerkinElmer, Inc. offers its products &amp; services and solutions for the diagnostics, food, environmental, industrial, life sciences research and laboratory services markets. The company offer comprehensive genetic testing solutions that help to provide insight into the complex nature of rare and inherited diseases. Some of the subsidiaries of the company are Caliper Life Sciences, Improvision, Viacell Inc., ViaCord LLC, among many others. The company has its facilities located in Europe (France, Germany, and Belgium), U.S. and Asia (China, India, and Japan).</p><p><strong>4.&nbsp;<a href="https://www.eurofins.com/">Eurofins Scientific SE (Luxembourg)</a></strong></p><p>Eurofins Scientific SE was founded in 1987 and is headquartered in Luxembourg, Europe. The company offers a portfolio of over 130,000 analytical methods and more than 150 million assays performed each year to establish the safety, identity, composition, authenticity, origin, traceability, and purity of biological substances and products, as well as carry out human diagnostic services. The company has its geographic presence across 39 countries in Europe, North and South America, and Asia-Pacific.</p><p><strong>5.&nbsp;<a href="https://www.gatc-biotech.com/en/index.html">GATC Biotech AG (Germany)</a></strong></p><p>GATC Biotech AG was founded in 1990 and is headquartered in Constance, Germany. The company provides DNA and RNA sequencing and bioservices solutions to academics and industrial areas. It also provides next generation sequencing services including genomes, targeted (re)-sequencing, human sample sequencing, transcriptomes, metagenomes, regulomes, pre-sequencing, NGS barcode labels, and next generation sequencing technologies; and bioservices services, including bioservices tools, pipelines and workflows, compute resources, data analysis reports, and case studies. GATC Biotech AG operates as a subsidiary of Eurofins Scientific SE. It offers its products through distributors in Italy, Japan, Portugal, Spain, and the Czech Republic.</p><p><strong>6.<a href="https://www.macrogen.com/">&nbsp;Macrogen, Inc. (South Korea)</a></strong></p><p>Macrogen, Inc. was founded in 1997 and is headquartered in Seoul, South Korea. Macrogen, Inc. provides next generation sequencing services such as whole genome, de novo, exome, targeted, transcriptomics, metagenome, and epigenome sequencing.&nbsp; The company also provides a variety of services such as oligo synthesis, database construction, genome research, and bioservices analysis system consulting services. Macrogen, Inc. provides genome research services in Korea and internationally.</p><p><strong>7.&nbsp;<a href="https://www.genotypic.co.in/">Genotypic Technology Pvt. Ltd. (India)</a></strong></p><p>Genotypic Technology Pvt. Ltd. was incorporated in 1998 and is headquartered in Bangalore, India. Genotypic Technology is the first Genomics service provider in India providing Microarray, Next Generation Sequencing (NGS), Bioservices and solutions to domestic/ international pharma, biotech companies and academia. The company provides its services for protocol optimization, probe designing, array layouts, project designing, and nucleic acid analysis to in-depth analysis. Genotypic Technology has its geographic presence in North America, Europe, Asia Pacific, Middle East &amp; Africa, and Latin America.</p><p><strong>8.&nbsp;<a href="https://www.genewiz.com/">GENEWIZ, Inc. (U.S.)</a></strong></p><p>GENEWIZ, Inc. was founded in 1999 and is headquartered in South Plainfield, New Jersey, the U.S.; The company is a leading provider of research service in the field of Next Generation Sequencing, Sanger DNA sequencing, sequencing of bacteria and phage, gene synthesis, DNA cloning, genomics including mutation analysis, single nucleotide polymorphism, and bioservices. GENEWIZ, Inc. has its geographic presence in U.S., China, Germany, France, Japan, and the U.K.</p><p><strong>9.&nbsp;<a href="https://www.genomics.cn/">Beijing Genomics Institute (China)</a></strong></p><p>Beijing Genomics Institute (BGI) is the world&rsquo;s largest genomics organization and non-profit research institution that was founded in 1999 and is headquartered in Shenzhen, China. The Company provides a wide range of commercial next generation sequencing services and genetic tests for medical institutions, agricultural and environmental applications. The Company operates all across the globe through its subsidiaries, namely, BGI China (Mainland), BGI Asia Pacific, BGI Americas (North and South America) and BGI Europe (Europe and Africa).</p><p><strong>10.&nbsp;<a href="https://www.scigenom.com/">SciGenom Labs Pvt. Ltd (India)</a></strong></p><p>SciGenom Labs Pvt. Ltd was founded in 2010 and is headquartered in Cochin, India with offices in Chennai &amp; Hyderabad in India, and San Francisco in the U.S. It is a Genomics R&amp;D services company that provides genomic sequencing and NGS services to life sciences and healthcare businesses globally as well as academic and government institutions in India.</p><p>Popular mentions &ndash; MedGenome (India), DNA Link, Inc. (South Korea), Otogenetics Corporation (U.S.), Novogene Corporation (China), LGC Limited (U.K.), CD Genomics (U.S.), SeqLL, LLC (U.S.)</p>]]></description>
	<dc:creator>BioStar</dc:creator>
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  <guid isPermaLink='true'>https://bioinformaticsonline.com/opportunity/view/17187/urdip-bioinformatics-rajrf-vacancies</guid>
  <pubDate>Sat, 20 Sep 2014 20:52:56 -0500</pubDate>
  <link></link>
  <title><![CDATA[URDIP Bioinformatics RA/JRF Vacancies]]></title>
  <description><![CDATA[
<p>CSIR - UNIT FOR RESEARCH AND DEVELOPMENT OF INFORMATION PRODUCTS (CSIR- URDIP)</p>

<p>Adv. No. URDIP/ 6/2014</p>

<p>Opportunity for young Bioinformatics Professionals to make a career in the area of Intellectual Property CSIR has set up a Unit for Research and Development of Information Products (CSIR-URDIP) at Pune to work in the area of scientific informatics. One of the major focus areas of research work at CSIR-URDIP is PATENT INFORMATICS. With the increasing applications of Bioinformatics in the areas of life sciences industry such as Agriculture and Health Care (Diagnostics and Drugs), the output of research in these area is being protected by different forms of Intellectual Property rights. Realizing the importance of IP in the Bioinformatics field, Department of Biotechnology (DBT) has sanctioned a project on “Development, Facilitation and Harvesting of Bioinformatics related Intellectual Property” at CSIR-URDIP.</p>

<p>The project will involve application of Patent Informatics tools and techniques to Bioinformatics (including creation of patent landscapes, preparation of techno-legal reports of patentability, freedom to operate studies) to help protect IPRs and develop and conduct training programmes on IPRs related to Bioinformatics.</p>

<p>CSIR-URDIP invites applications from young Bioinformatics professionals to work on this emerging area which offers challenging opportunities and attractive career possibilities in future.</p>

<p>Position I: Research Associate</p>

<p>No of Positions: One</p>

<p>Consolidated amount Payable: Rs. 22,000/- per month + 20% HRA= Rs.26,400</p>

<p>Qualification:  PhD in Bioinformatics. In exceptional cases, candidature of M. Tech. candidates with First class in Bioinformatics with three years of relevant work experience will also be considered.</p>

<p>Age Limit: 35 years. The age should not exceed the limit indicated as on a closing date of receipt of completed application form.</p>

<p>Upper age limit is relaxable for 5 years for SC/ST, OBC, Physically handicapped and female candidates as per CSIR/Government of India rules.</p>

<p>Position II: Junior Research Fellow</p>

<p>No of Positions: one</p>

<p>Consolidated amount Payable: Rs. 16,000/- + 20% HRA = 19,200</p>

<p>Qualification: M.Sc / BE or equivalent in Bioinformatics with minimum of 55% marks in aggregate Job requirement: Scientific literature and patent search, analysis and Report Writing</p>

<p>Preference: Preference will be given to candidates with knowledge of patents and or 1-2 years of experience + Knowledge of Computers (MS Excel + Word Processing)</p>

<p>Age Limit: 28 years. The age should not exceed the limit indicated as on a closing date of receipt of completed application form.</p>

<p>For details please visit our website (www.urdip.res.in/careers) for further details and apply online by 30th September, 2014.</p>

<p>Advertisement: http://www.urdip.res.in/download/Advt6_2014.pdf</p>
]]></description>
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	<guid isPermaLink="true">https://bioinformaticsonline.com/bookmarks/view/17176/arvados</guid>
	<pubDate>Sat, 20 Sep 2014 16:54:21 -0500</pubDate>
	<link>https://bioinformaticsonline.com/bookmarks/view/17176/arvados</link>
	<title><![CDATA[Arvados]]></title>
	<description><![CDATA[<p>Arvados is a free and open&nbsp;source bioinformatics&nbsp;platform for genomic and&nbsp;biomedical data. User can&nbsp;Store | Organize | Compute | Share the data for free.&nbsp;</p>
<p><img src="https://arvados.org/images/dax.png" width="400" height="535" alt="image" style="border: 0px;"></p><p>Address of the bookmark: <a href="https://arvados.org/" rel="nofollow">https://arvados.org/</a></p>]]></description>
	<dc:creator>Martin Jones</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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