Post di Arrow Diagnostics

Unlocking Insights into Hereditary Cardiomyopathies (CMPs) 📢 Cardiomyopathies feature several key associated genes which were found to be closely associated with several types of these diseases, such as ACM, HCM and DCM 🧬 NGS technologies now allow us to identify more minor gene variants which seem to be linked to the presence of heart diseases in patients, as summarised in this month’s suggested read 🔬 🦠We at 4bases present the CARDIO pro kit which allows the characterisation of familial cardiovascular diseases, powered by NGS technologies 👉 Read the full article here: https://lnkd.in/dQqbJXxY #GeneticTesting #Cardiomyopathy #HealthcareInnovation  

📑 Read our latest case study and testimonial from Dr. Olena Kis, Director of Molecular Pathology at Henry Ford Health Systems: "Implementing comprehensive clinical exome analysis to support diverse applications at Henry Ford Health". 🚀 Discover how Henry Ford Health streamlined its genetic testing by moving from three separate assays to a single, powerful exome-based solution. Learn how the SOPHiA DDM™ Exome Solution v3 consolidated their workflows for hereditary cancer, cystic fibrosis, and pharmacogenetics, offering broad gene coverage with a compact assay footprint. ➡️ Dive into the full story to see how this innovative approach enabled the detection of SNVs, Indels, and CNVs in one comprehensive assay, simplifying their germline testing processes: https://lnkd.in/gKqEcSRa #HenryFordHealth #Genomics #ExomeAnalysis #GeneticTesting #DataDrivenMedicine #CustomerTestimonial

🚀 We are excited to share some of the activities from our Pathfinder Challenge #IMPACT, which aims to revolutionize how we understand and treat Arrhythmogenic Cardiomyopathy (ACM). 🧬❤️ 🔍 The objectives of one of our Work Packages is to improve ACM patient stratification by determining the contribution of Variants of Unknown Significance (VUS) 🔬 Our current efforts involve: ✅ Functional classification of VUS: using cutting-edge gene editing techniques, we aim to generate allelic series of human induced pluripotent stem cells (hiPSCs) containing at least 12 VUS in PKP2, a primary gene associated with ACM. ✅ STRAIGHT-IN approach: this novel method allows us to simultaneously generate over 12 hiPSC lines with different mutations, leveraging an established control hiPSC line known for its excellent differentiation capacity and stable karyotype. ✅ In vitro cardiac organoids: since ACM manifests postnatally, we use hiPSCs to create cardiac organoids, enabling the maturation of hiPSC-derived cardiomyocytes to post-natal levels. This comprehensive approach will enable us to classify VUS as malignant or benign more accurately than existing computational and population-based methods. 🌟 We continue to advance our understanding of ACM and work towards better, more personalized treatments. 💡🔬 Be a part of our journey and follow us! Stay tuned and visit our website https://lnkd.in/dZv23Xku for more!

💡 The SOPHiA DDM™ Platform reliably calls and prioritizes variants, turning complex and noisy genomic data sets from exome sequencing into valuable insights for data-driven decision-making.  Why choose the SOPHiA DDM™ Platform for exome analysis? ➡ All-in-one solution: Consolidate your workflows with the SOPHiA DDMTM Clinical and Whole Exome Solutions, with rare disease, hereditary cancer, and Pharmacogenomics applications and more! ➡ Universal: The SOPHiA DDM™ Platform is technology-agnostic for simple integration into existing workflows with any top exome enrichment chemistry, emerging sequencers, and liquid handlers. ➡ Integrated: SOPHiA DDM™ Integrated Access Mode lets you tap into certified sequencing partners who generate sequencing data and securely upload it to your SOPHiA DDM™ account for analysis and reporting, while you maintain full ownership of all data. ➡ Enhanced Tertiary Capabilities: Advanced filtering and AI-powered variant prioritization Interested to know more? 🔗 Explore the power of the SOPHiA DDM™ Platform for exome analysis: https://lnkd.in/gY585wtp #DataDrivenMedicine #ExomeAnalysis #AIforHealthcare

CeGaT introduces Deep Immunogenetics (DIG), a new diagnostic service developed specifically for detecting low-frequency somatic mosaic variants in immune disorders. Low-frequency somatic mosaic variants (5% allele frequency or even less) can trigger immune disorders. These variants often remain undetected in standard NGS approaches such as panel, exome, and especially genome sequencing. CeGaT’s Deep Immunogenetics (DIG) specifically enriches 337 immune disorder genes. These genes are sequenced with a coverage of approx. 1,000x, i.e., 10 times higher than a standard exome (100x) and more than 30 times higher than a standard genome (30x). This deep sequencing enables the detection of low-frequency somatic mosaic variants. Learn more by reading our news text: https://lnkd.in/eAhbcKAM #genetics #diagnostics #sequencing #immunesystem #immunedisorders #rarediseases #news

Sensitive, capture-based measurable residual disease (MRD) analysis in acute myeloid leukemia (AML) is now available with the SOPHiA DDM™ RAM Solution.   A simple integration with common NGS workflows makes it easy to bring this capability in-house, and our automated analysis and interpretation pipeline delivers clear, actionable data.   Explore how SOPHiA DDM™ RAM can transform AML MRD testing, enabling the visualization of sub-clonal evolution and confident MRD status assessment at each time point, by: ✅ 23-gene content curated by experts following ELN guidelines ✅ Leverage proprietary CUMIN™ molecular adaptor technology for ultrasensitive SNV/Indel detection with LoD up to 0.01% VAF ✅ Track longitudinally the evolution of individual variants over time Download our flyer to learn more: https://lnkd.in/dF-uBdGj #MRD #Heme #NGS #DataDrivenMedicine

Upcoming webinar! Join us on Wednesday, May 22nd to learn about the current gold standards for MSI testing and the clinical relevance of the MSI-H biomarker. Presented by Dr. Annette Burkhouse, this webinar will explore the importance of microsatellite instability (MSI) testing in genetics and immuno-oncology applications. We will also discuss MSI testing gold standards, compare different methods that are currently being used for MSI testing for mismatch repair deficient (dMMR) tumors, and delve into the clinical relevance of the MSI-H biomarker. Visit the link to register and learn more: https://bit.ly/3WAwdlo

📣 #ESMO 2024 Topic Takeover No. 3 🩸 Decentralizing MSK-ACCESS® powered with SOPHiA DDM™ MSK-ACCESS® powered with SOPHiA DDM™, a decentralized version of the rigorously validated cell-free DNA (cfDNA) assay developed and regularly used in clinical routine by Memorial Sloan Kettering Cancer-Center (MSK). SOPHiA GENETICS is working on decentralizing this comprehensive liquid biopsy assay, that includes 146 key cancer-associated genes, to increase access to liquid biopsy testing all over the world. Get more out of ESMO 2024 and book a meeting with us to learn about SOPHiA GENETICS Liquid Biopsy solutions: https://lnkd.in/dpkACUUr #ESMO2024 #PrecisionOncology #PrecisionMedicine #AIforHealthcare #LiquidBiopsy #DataDrivenMedicine

Diagnosing rare diseases in adults using Next-Generation Sequencing 🔬 Advanced sequencing tools like exome/genome sequencing (ES/GS) and long-read sequencing (LRS) significantly improved diagnostic accuracy, especially for adult cohorts 🧬 This month’s suggested read, in support of Telethon and rare disease research, is a paper providing a way to maximise diagnosis yields by considering several clinical parameters in patients, including family history, age of symptom onset, and genetic cause 🦠 We at 4bases present the WholEx pro sequencing kit allowing whole exome sequencing for single nucleotide variant identification Read the full article here: https://lnkd.in/dU7yzKU9 #RareDiseases #PrecisionMedicine #Telethon