Whole exome sequencing (WES) does exactly that. It allows researchers and clinicians to identify disease-causing mutations efficiently, by focusing on just the protein-coding regions of genes. This introduction to WES explains what it is and how it works, as well as outlining its applications and offering a comparison with whole genome sequencing (WGS). Read the full article in our latest blog: 👉 https://bit.ly/WGS-Blog #blog #wholeexomesequencing #wes #protein-coding
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With our whole genome platform we regularly solve cases where the diagnostic variant was missed by prior exome testing. Until now there’s been little formal data measuring the incremental benefit of genome sequencing. That’s changed with a recent study published in NEJM where the authors found a full 8% of diagnoses were possible only with genome sequencing. With such a significant gain genome sequencing is the clear choice. ➡️ https://lnkd.in/dStKj9qs
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Locityper: targeted genotyping of complex polymorphic genes. A tool capable of genotyping such challenging genes using short and long-read whole genome sequencing. https://lnkd.in/dQrVraWF
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Why choose CeGat's ExomeXtra®? It combines the strengths of WGS, WES, and array CGH by overcoming their limitations. With enhanced sensitivity and coverage, it goes beyond exome coding regions to include the entire mitochondrial genome and known disease-causing regions. CeGat's innovative design and in-depth analysis make ExomeXtra® the most comprehensive genetic test available. As CeGaT's exclusive partner in the region, ImagineHealth is here to help you gain access to the latest groundbreaking healthcare solutions. Contact us for more information. #geneticdiagnostics #tumordiagnostics #ImagineHealth #CeGaT #Genetics #Diagnostics #Treatment #Healthcareindustry #innovation
What sets ExomeXtra® apart as 'better than exome, smarter than genome'? ExomeXtra® combines the advantages of whole genome sequencing (WGS), whole exome sequencing (WES), and array CGH while avoiding their disadvantages. Unlike standard WGS, which often has insufficient coverage for reliable variant detection, ExomeXtra® offers higher sensitivity and more thorough coverage of relevant genomic regions. Its unique design goes beyond the coding regions of the exome: It also encompasses the entire mitochondrial genome and all known disease-causing regions, including copy number variants in the whole genome. This smart design, combined with our extra thorough analysis and medical data interpretation for insightful results, makes ExomeXtra® the most comprehensive genetic test available. Learn more: https://lnkd.in/ec6vX9DJ
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Whole genome sequencing is currently the most comprehensive test available on the market, however, there are lots of factors that can influence a decision to perform genome sequencing. Learn more in this "Hot Topic." https://bit.ly/4aKjT6h
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Next-generation sequencing (NGS) is transforming genetic diagnostics, allowing millions of DNA bases to be analyzed quickly and efficiently. What are the advantages of NGS? - Faster speed: Get results in days instead of weeks. - Higher accuracy: Detects smaller and more complex genetic variants. - Lower cost: The price per sequenced base has decreased dramatically. - Increased capacity: Analyzes multiple genes or even the entire genome at once. NGS allows a more accurate diagnosis, identifying the genetic cause of rare and complex diseases. In addition, thanks to it, a more personalized approach can be offered, tailoring treatment to the individual characteristics of each patient. #NGS #sequencing #genetics #diagnosis #personalizedmedicine
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Are you at Lorne Genome? You can learn more about Single-Molecule, real-time (SMRT) sequencing for highly accurate resolution of complex genomic regions, specifically those that encode immune receptors from Dr Melissa Smith. #LorneGenome2024 PacBio
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Has genetic testing on your patient resulted in another variant of unknown significance (VUS)? For providers and their patients, this type of result can be challenging and impede the diagnostic process. Alamya Health offers 3 advanced solutions to facilitate accurate variant classification: 1) transcriptome sequencing, 2) DNA methylation signature detection, and 3) long-read whole genome sequencing. Don't let a VUS stop the search for answers! Get more information at https://lnkd.in/gXngKxYr. #precisionmedicine #alamyahealth
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In the realm of medicine, the correct diagnosis can be half the battle. With 70% of patients experiencing misdiagnoses, accurate and timely testing is crucial. Rapid Whole Genome Sequencing (rWGS) addresses the urgent need for diagnosis by quickly identifying genetic variations and providing comprehensive genetic insights, leading to improved patient outcomes. Learn more: https://bit.ly/3Jt6FPZ #ThinkBG #BGreat #GenomeSequencing #NICU
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Transforming Healthcare through Data-Driven Genomic Insights | Pioneering the Future of Medicine | Bioinformatics Specialist
In this next post of the series, I’ll be diving into "𝗗𝗶𝗳𝗳𝗲𝗿𝗲𝗻𝘁 𝗦𝗲𝗾𝘂𝗲𝗻𝗰𝗶𝗻𝗴 𝗠𝗲𝘁𝗵𝗼𝗱𝘀." We’ll explore the key techniques like Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), and more, focusing on when each method is used and the advantages they offer over one another. I encourage experts to share their thoughts or add further insights as we compare these powerful sequencing methods! Let’s dig into the details!
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SCGE Phase 2 Principal Investigator Shengdar Q. Tsai and his team are leading research to optimize and qualify CHANGE-seq and gRNA sequencing methods as genome editing IND-enabling assays. Learn more about the project at https://lnkd.in/e8CP4ZGW #genomeediting #geneediting
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