We are thrilled to present the film “Finding the genetic cause for patients with genodermatoses” 🌟 This study, led by Maria Wilbe at Uppsala University, shows how new technologies (in this case long-read sequencing) can be implemented for clinical diagnostics and how #ClinicalGenomicsUppsala can contribute with bench-to-bedside service. SciLifeLab Akademiska sjukhuset
SciLifeLab Clinical Genomics’ Post
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Why do female-derived cell models matter in biomedical research❓ It’s not just about inclusion – it’s about improving accuracy and outcomes in everything from drug testing to disease modeling. We dive deep into why these models are crucial for understanding human biology and advancing treatments in our latest blog. From improved drug development to researching genetic diseases, female-derived cell models are making a big impact: https://hubs.la/Q02YxQ-10 #CRISPR #CellModels #BiomedicalResearch #PrecisionMedicine #WomenInScience
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Have you ever heard of molecular diagnostics?🧬 It's a cutting-edge approach that examines our genetic material to uncover disease risk factors, detect infections, and more. From cancer to genetic disorders, molecular testing allows for highly targeted treatments based on our unique DNA. Whether through techniques like FISH or cytogenetic analysis, this precision tool reshapes how doctors diagnose and treat, offering clearer insights and personalized healthcare. Ready to unlock the secrets of your DNA? Contact Clarity Labs today to find out more about our molecular testing services. #MolecularDiagnostics #FutureOfHealthcare #ClarityLabs
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Have you ever heard of molecular diagnostics?🧬 It's a cutting-edge approach that examines our genetic material to uncover disease risk factors, detect infections, and more. From cancer to genetic disorders, molecular testing allows for highly targeted treatments based on our unique DNA. Whether through techniques like FISH or cytogenetic analysis, this precision tool reshapes how doctors diagnose and treat, offering clearer insights and personalized healthcare. Ready to unlock the secrets of your DNA? Contact Clarity Labs today to find out more about our molecular testing services. #MolecularDiagnostics #FutureOfHealthcare #ClarityLabs
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Current LNP-RNP delivery faces challenges with uniformity, stability, and biocompatibility when targeting tissues beyond the liver. But a recent publication highlights tissue-selective LNP-mediated delivery of thermostable CRISPR RNPs as a new approach to achieving in vitro and in vivo genome editing. So what? 🙃 Well, first of all, this approach extends beyond liver targeting, showing potential to edit other tissues like the lungs and heart. Secondly, the authors highlighted several advantages of RNP delivery over viral-based or mRNA-based methods, such as improved stability, faster results, and fewer off-target effects. This could be a game-changer for more precise, tissue-specific genome editing. Link to the paper in the comment section! 😊
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For patients tested at Ambry Genetics, the Patient for Life™ program offers proactive, laboratory-driven, continuous exome reanalysis. Clinicians only need to submit a request for reanalysis when there is a significant update to the patient’s clinical phenotype. Learn more in this blog post from Sr. Genomic Science Liaison Melissa Holman. #PatientforLife #exome https://hubs.ly/Q02-LC8R0
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ICYMI: DEPLOY enhances the accuracy of central nervous system tumor diagnoses. By utilizing standard histopathology slides, DEPLOY predicts DNA methylation patterns, offering a potentially more accessible approach than traditional sequencing methods. Read more about this innovative diagnostic tool: https://lnkd.in/e6vEshmT #CNS #TumorDiagnosis #DeepLearning #Bioinformatics #PrecisionMedicine
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Saliva is proving itself to be a readily available and abundant alternative to invasive blood draws and tissue biopsies as a source of nucleic acids. Indeed, saliva-based testing has become popular in recent years for both disease research and diagnostics. However, earlier saliva collection solutions were designed for either DNA or RNA applications. With researchers increasingly moving towards multi-omic approaches, there is a need for saliva collection that can collect and stabilize both DNA and RNA. Download this white paper from DNA Genotek Inc. to discover a new device that pairs the benefits of saliva collection with the performance needed for multi-omic research. Check out the white paper: https://lnkd.in/en-DahR4
Download this white paper from DNA Genotek Inc. to discover a new device that pairs the benefits of saliva collection with the performance needed for multi-omic research.
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If you're interested in developing clinical tests based on next-generation sequencing (NGS), I suggest you watch the CLSI MM09 webinar, which is free of charge. This webinar covers the key stages of diagnostic test development using NGS. Additionally, it includes a wealth of links to various regulatory guidelines and relevant scientific literature. https://lnkd.in/d9Kh9aJ3
MM09Ed3WR | MM09: Modernizing Guidance for Clinical Sequencing: Human Genetic and Genomic Testing Using Traditional and High-Throughput Nucleic Acid Sequencing Methods
clsi.org
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Our comprehensive inherited neuropathy panel simplifies the diagnostic process by using next-generation sequencing to evaluate 186 genes with associations to inherited neuropathy. Learn more. https://bit.ly/4g42vvG
Comprehensive inherited neuropathy panel - Insights
news.mayocliniclabs.com
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Our new white paper, "Rare disease diagnostics: Advancing orphan drug development through precision testing," explores how integrating multi-omics data—including genomics, epigenomics, transcriptomics, and proteomics—can offer a more comprehensive understanding of disease mechanisms. Let's discuss collaborative opportunities to accelerate breakthroughs in rare diseases. #PrecisionMedicine #RareDiseaseAdvocacy #DrugDiscovery https://lnkd.in/gPa682SF
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To learn more about the services at Clinical Genomics Uppsala visit our website: https://www.scilifelab.se/units/clinical-genomics-uppsala/