William G Kearns’ Post

"Exciting developments in genomic analysis: the new HyenaDNA model showcases a revolutionary approach to processing long DNA sequences with up to 1 million tokens at single nucleotide resolution. Leveraging the power of implicit convolutions, HyenaDNA significantly outperforms traditional Transformer-based genomic models, enabling more effective long-range interaction modeling and in-context learning. This advancement marks a milestone for genomic research, offering enhanced precision and speed in identifying regulatory elements and understanding genetic variations. Dive into the study for insights on how HyenaDNA sets new benchmarks in genomic sequencing." #Genomics #HyenaDNA #Bioinformatics #Innovation

Unleashing the Power of Genomic Evolution with Next-Generation Sequencing (NGS) Insights Let's discuss the four crucial elements within this arena.✅ ▪️NGS Revolutionizes Genetic Analysis: Unmatched accuracy redefines genetic analysis, surpassing conventional methods. ▪️Revamped Personalized Medicine: Healthcare undergoes a transformation with tailored treatments derived from individual genetics. ▪️NGS Speeds Diagnostic Precision: Swift, targeted disease detection and treatment redefine diagnostic approaches. ▪️Expansive Influence Beyond Healthcare: NGS innovations extend their reach across diverse fields, promising widespread impact. Join Forces for Precision Medicine، Share your insights to collectively shape the future of NGS-driven precision medicine!✅ #PrecisionMedicine #GenomicSequencing #NGSDrivenPrecision #RapidDiagnosis

Join CENTOGENE’s Prof. Peter Bauer, M.D., Chief Genomic and Medical Officer, and Dr. Jorge Pinto Basto, Vice President Medical Genetics, in our upcoming webinar on November 15 to learn more about how you can capture the most complete clinical picture by leveraging the power of transcriptomics. Don’t miss out as they dive deep into the diagnostic challenges you can overcome with MOx 2.0 – now including RNA sequencing! 📆 Save the Date: November 15, 2023  🕔 Time: 5:00 p.m. CET  🔗 Register Here: https://lnkd.in/efK67Azr #CentoTalk #Webinar #MOx #Multiomics #Transcriptomics #MultiomicRevolution #PrecisionMedicine #RNA #Sequencing #Innovation #Diagnostics #RareDisease

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

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

📢 New blog post 📢 Optical genome mapping (OGM) has emerged as a highly encouraging imaging approach for the detection and characterisation of genomic SVs with potential disease implications, including those excluded by existing sequencing technologies. Read our latest blog post "Optical Genome Mapping – A Promising Genomic Analysis Technique" here 👉 https://lnkd.in/entVxhNE #Genomics #SangerSequencing #NGS #Biomarkers #BiomarkerDiscovery #DrugDiscovery #Multiomics #OpticalGenomeMapping #Genome #LifeScience #DNA

Thanks IPHA for inviting me to participate and to my outstanding panelists gianpiero cavalleri and Alan Finglas, and to the remote audience who asked some great, provocative questions. I’m guessing this will be online soon, for those who want to hear what Alan and Gianpiero think about the future of genomics and clinical genetics in Ireland. They are aware of the challenges but see reasons for optimism. #medicalgenomics #ireland #healthcare #clinicalgenetics

Traditional genomic analysis relies on linear references, which do not accurately represent the diversity of human genomes, particularly for individuals of non-European ancestry. Reference Bias means important genomic variation in clinical research cohorts remains hidden in traditional NGS data analysis. With the right tools, we can overcome these limitations and unlock the full pre-clinical and clinical potential of genomic data. Join us for our upcoming webinar, “Accelerating Drug Discovery: How GRAF Pangenomes Enable Enhanced Insights from Sequencing Data,” and discover the future of NGS analysis efficiency. Together, let's propel genomic research forward towards a more inclusive and impactful future. 🔸 Save the Date: April 3 🔸 Join us at 11:00 AM EDT Secure your spot today! https://lnkd.in/gv9pVTDa #EraofVelsera #NGS #GRAF #DrugDiscovery

Machine learning and Artificial Intelligence have a huge potential in maximizing rare disease diagnosis and treatment. Through their integration into genomics, we can change the way rare diseases are managed. Check out our latest blog post on the Interpretation of rare genetic diseases through machine learning-based automation: https://lnkd.in/dCKpSiTQ #genomics #machinelearning #blog #rarediseases