SeqOne

SeqOne is heading to Melbourne! 🇦🇺 We’re thrilled to be attending the Pathology Update 2025, hosted by the Royal College of Pathologists of Australasia (@PathologyRCPA), alongside Integrated Sciences (@Integrated_Sci) in Melbourne, from February 21 to 23! Come say hello and learn more about our Oncology solutions: ▶️ SomaCGP: our powerful bioinformatics solution to unlock complex multigenetic alterations—including TMB, MSI, fusions, SNPs, and more—within a single workflow, prioritizing variants to streamline and accelerate your laboratory’s analysis. ▶️ SomaHRD: a versatile, cost-efficient, and clinically-validated pipeline that assesses genomic instability from sWGS to personalize treatment strategies in ovarian cancer. ▶️ SomaVar: our answer for high precision variant calling for Solid Tumors and Hematologic Malignancies: a solution for confident SNPs, CNVs, and DNA fusion calling, supporting both hybrid capture and amplicon technologies. In Australia, we are proud to partner with Integrated Sciences to advance germline and somatic genomics through innovative bioinformatics solutions. Together, we are delivering cutting-edge genomic analysis to enhance cancer care. 🚀 Learn more 👉 seqone.com #Somatic #Oncology #NGS #PersonalizedMedicine #GenomicsRevolution

Cutting-edge Phenotype-Driven Genomics: How SeqOne is Boosting Diagnostic Efficiency 🧬 Curious about what advanced phenotype-based genomics can do for your lab? Check out our new blog post where we dive into SeqOne’s innovative features and free trials for hands-on experience. ✅ Automated Phenotype Integration & Capture – No more manual HPO term handling. Our DiagAI HPO seamlessly extracts phenotypes from clinical notes—multi-language support and a privacy-first approach included! ✅ Smarter Variant Prioritization – Thanks to our DiagAI Score integrating phenotype, you can focus on the most relevant variants first, saving time without missing critical insights. ✅ Transparent, Explainable AI – Take advantage of intuitive phenotype-genotype visuals that bolster confidence in your diagnostic decisions—no more “black box” AI. ✅ Flexible HPO Filtering Modes – Precisely dial in your desired level of specificity or sensitivity, ensuring you find the right balance for every clinical scenario. ✅ Powerful APIs – Already have an in-house pipeline? Seamlessly integrate our DiagAI HPO API into your existing workflows. Curious about what phenotype-based genomics can do for your lab? Check out our new blog post where we dive into SeqOne’s innovative features and free trials for hands-on experience: seqone.com/news/next-gene… Ready to transform your genomic analysis workflows? Contact us for free full features trials on your own samples. #ClinicalGenomics #HumanPhenotypeOntology #AIinHealthcare #RareDiseaseDiagnostics #PrecisionMedicine

📣 Live from the Festival of Genomics & Biodata in London! 🇬🇧 The SeqOne team is looking forward to meeting you at booth 67A! Join us to explore how we're revolutionizing bioinformatics with our cutting-edge solutions: ▶️ SeqOne DiagAI: AI-powered variant interpretation for faster genomic analysis. ▶️ SeqOne germVar: AI-enhanced genome interpretation for Oxford Nanopore data. ▶️ SomaCGP: All-in-one workflow for complex genomic alterations (TMB, MSI, fusions, SNPs). ▶️ SomaHRD: Validated sWGS pipeline for genomic instability in ovarian cancer. Our comprehensive platform addresses both germline and somatic analysis needs, simplifying complex genomic data interpretation for faster, more precise clinical decisions. Let's discuss how our advanced bioinformatics solutions can enhance your workflow! 🧬 See you at Booth 67A! 👋 #FOG2025 #NGS #PrecisionMedicine #Bioinformatics #Genomics

SeqOne's SomaHRD platform demonstrates exceptional performance in collaboration with @Agilent Technologies and @Psomagen. This new Application Note data confirms SomaHRD's outstanding accuracy in HRD assessment. 🎯 Key performance metrics of our HRD solution: ✅ Superior accuracy: HRD+ probability scores of 78-82% for positive samples and <11% for negative samples ✅ Excellent reproducibility: less than 3% variation between replicates ✅ Comprehensive analysis through detailed quality metrics and advanced coverage profiling Validated on the PAOLA-1 cohort, our cloud-based platform uses machine learning algorithms and genomic instability metrics to deliver precise HRD assessment through low-pass WGS. This offers laboratories a cost-effective decision support solution for confident PARP inhibitor treatment decisions. Want to enhance your lab's HRD testing capabilities? Download the detailed application note here: eu1.hubs.ly/H0g47CG0, or contact us to discuss your requirements. #PrecisionOncology #CancerResearch #Genomics #HRD #NGS #Bioinformatics #CancerTreatment

We’re excited for the Festival of Genomics and Biodata! 🇬🇧 SeqOne will be attending the Festival of Genomics and Biodata (@FoGenomics) in London on January 29th and 30th. #FOG2025 📍 Find us at Booth 67A to meet our team of experts, explore cutting-edge genomic analysis solutions, and get a live demo of the SeqOne Platform—your all-in-one solution for germline and somatic analyses, certified as a Class C medical device under IVDR. Here’s a sneak peek at what we’ll be showcasing: ▶️ SeqOne DiagAI: Harness AI-driven, ultra-fast variant interpretation with prioritized candidate lists to simplify and accelerate genomic data analysis.seqone.com/resources/effi… ▶️ SeqOne germVar: Leverage AI-enhanced whole genome variant interpretation tailored for Oxford Nanopore data. seqone.com/news/oxford-na… ▶️ SomaCGP: Uncover complex multigenetic alterations—including TMB, MSI, fusions, SNPs, and more—through a single streamlined workflow. ▶️ SomaHRD: A clinically validated, cost-effective pipeline to assess genomic instability using sWGS, empowering personalized treatment strategies for ovarian cancer patients. …and so much more! Engage with our genomics specialists, exchange ideas, and join the conversation shaping the future of genetic analysis. We can’t wait to meet you—see you there! #GenomicAnalysis #PersonalizedMedicine #NGS #ClinicalGenomics #PrecisionMedicine

We are excited to share new research from the Georges-François Leclerc Cancer Center (CGFL), in which our bioinformatics team helped assess the clinical utility of Oxford Nanpore (@nanopore) adaptive sampling for analyzing cancer predisposition genes. 🧬 This study establishes robust quality parameters for clinical adoption and shows how adaptive sampling can streamline diagnostic workflows while improving variant detection. Notably, it enables identification of important deep intronic variants that conventional panel sequencing often misses. We are honored to collaborate with Dr. Romain Boidot (@boidot_romain) and the CGFL team to push the boundaries of precision oncology. Read the full research article here: onlinelibrary.wiley.com/doi/epdf/10.10… #Genomics #PrecisionMedicine #Innovation

Rendez-vous au Séminaire de Génétique Clinique ! 🇫🇷 🧬 SeqOne sera présent au 34e Séminaire de Génétique Clinique, organisé sous l’égide de l'Association Française de Génétique Clinique (AFGC) à Grenoble, les 16 et 17 janvier. 📍 Venez rencontrer nos experts pour découvrir nos solutions d'analyse génomique de pointe pour les panels, exomes et génomes. Découvrez comment nous transformons le paysage du diagnostic génomique avec: ▶️ SeqOne DiagAI : Interprétation ultra-rapide des variants, propulsée par l'IA, avec des listes de candidats priorisées, simplifiant l'interprétation des données génomiques. seqone.com/resources/effi… ▶️ SeqOne germVar : Interprétation des variants du génome entier, enrichie par l'IA, pour les données obtenues avec Oxford Nanopore. seqone.com/news/oxford-na… ▶️ Notre expertise dans l'accompagnement des laboratoires qui transitionnent depuis Alissa transition fluide depuis Alissa (y compris imports de MVL, intégration des données historiques, etc.) seqone.com/seqone-alissa-… ▶️ GenomeAlert! : Réévaluation automatisée des variants avec notre couche de curation innovante. seqone.com/news/genomeale… ▶️ SeqOne CGH Array Interpretation : Outil cloud optimisé pour les puces CGH d'Agilent. seqone.com/news/introduci… Nous sommes impatients de rencontrer d'autres passionnés de génomique, de partager nos connaissances et d'explorer ensemble l'avenir de la recherche et du diagnostic génétique. À bientôt à Grenoble ! #Génomique #NGS #IA #MédecineDePrécision #MédecinePersonnalisée #MédecineGénomique #InterprétationDeVariants #DiagnosticMoléculaire

@FLGenomics We are happy to join 🤩

We’re delighted that @SeqOneGenomics will be exhibiting at The Festival of Genomics and Biodata next month! Get your ticket for the UK’s largest life sciences event here: hubs.la/Q02Zl47C0 #FOG2025

🇻🇳 We're thrilled to announce Gene2Genome Technologies as our newest distributor in Vietnam! This partnership strengthens SeqOne's global mission to revolutionize healthcare through accessible genomic medicine. With Gene2Genome Technology's extensive regional network and our cutting-edge NGS solutions, we're setting new standards in genomic analysis in Vietnam. 🗨️ "SeqOne is the most effective, easy-to-use genomic analysis solution for bioinformatics. Partnering with SeqOne allows us to confidently provide the most comprehensive and accurate solutions to our customers." Ready to elevate your NGS data analysis capabilities? Connect with us now to explore the possibilities! #Genomics #NGS #PersonalizedMedicine #GenomicMedicine #PrecisionMedicine

🔬 Excited to share new data demonstrating SeqOne's comprehensive genomic profiling (CGP) analysis capabilities as part of an integrated solution with @ElemBio AVITI Platform and @Agilent SureSelect Cancer CGP Assay! Performance highlights: ✅ Full automation with Magnis NGS Prep (just 15 min hands-on!) & SeqOne SDS for seamless data transfer, analysis & reporting ✅ 100% sensitivity at >150x coverage for all variant types (SNVs, CNVs, fusions) ✅ Precise assessment of complex biomarkers (TMB, MSI) ✅ Comprehensive variant interpretation with optimized reporting The data validates how this integrated solution enables laboratories to efficiently process CGP samples from DNA to insights with minimal hands-on time while maintaining exceptional accuracy and reproducibility. Want to learn more? ➡️Download the Data Spotlight document eu1.hubs.ly/H0fcZcb0 or contact us to schedule a demo. #GenomicMedicine #NGS #Bioinformatics #PrecisionOncology #CancerResearch #LabAutomation #Genomics #PrecisionMedicine #CGP #CancerGenomics

Customer Success Story: CHU de Reims & SeqOne 🌟 We’re pleased to share a testimonial from Professor Anne-Sophie Lèbre, Clinical Molecular Geneticist at CHU de Reims, highlighting the impact of SeqOne’s genomic solutions: "SeqOne’s combination of flexibility, ease of use, and clinical relevance makes it an invaluable tool for both research and clinical diagnostics." We’re proud to support CHU de Reims in delivering precise genomic analysis for personalized patient care. Read the full story: seqone.com/news/transform… @aslebre_genet #GenomicAnalysis #PrecisionMedicine #HealthcareInnovation #RareDiseases #Oncology

See you at the DGP’s Molecular Pathology meeting! 🇩🇪 SeqOne is looking forward to attending the 14. Herbsttreffen der AG Molekularpathologie der Deutschen Gesellschaft für Pathologie (DGP) in Cologne on December 9 & 10. Mark your calendars and come meet us! 🧬 📍 Come by Booth A09 to learn more about our Oncology solutions: ▶️ SomaCGP: our powerful bioinformatics solution to unlock complex multigenetic alterations—including TMB, MSI, fusions, SNPs, and more—within a single workflow, prioritizing variants to streamline and accelerate your laboratory’s analysis. ▶️ SomaHRD: a versatile, cost-efficient, and clinically-validated pipeline that assesses genomic instability from sWGS to personalize treatment strategies in ovarian cancer. ▶️ SomaVar: our answer for high precision variant calling for Solid Tumors and Hematologic Malignancies: a solution for confident SNPs, CNVs, and DNA fusion calling, supporting both hybrid capture and amplicon technologies. We look forward to connecting with you and exploring how our advanced bioinformatics solutions can transform your work in precision oncology. See you very soon in Cologne! #Somatic #Oncology #NGS #PersonalizedMedicine #GenomicsRevolution #PrecisionMedicine #MolecularPathology #Bioinformatics #Genomics #HealthcareInnovation

SeqOne is heading to Porto! Join us at SPGH 2024 🇵🇹 We're thrilled to announce our participation in the 28th Annual Meeting of the Sociedade Portuguesa de Genética Humana (SPGH), taking place December 5-7 in Porto, Portugal. 📍 Stop by booth 16 to discover how our cutting-edge NGS analysis platform is revolutionizing Panels, Exomes, and Genome analysis. Discover how we're transforming the landscape of genomic diagnostics with: ▶️ SeqOne DiagAI: Witness AI-driven, lightning-fast variant interpretation featuring prioritized candidate lists, enhancing genomic data analysis efficiency. seqone.com/resources/effi… ▶️ SeqOne germVar: Explore AI-enhanced whole genome variant interpretation tailored for Oxford Nanopore data. seqone.com/news/oxford-na… ▶️ Our expertise in assisting labs with smooth transition from Alissa (including transition projects, MVL imports, historical data integration, and more) seqone.com/seqone-alissa-… ▶️ GenomeAlert!: Transforming variant reevaluation through our innovative curation layer. seqone.com/news/genomeale… ▶️ SeqOne CGH Array Interpretation: Discover our cloud-based solution optimized for Agilent's CGH MicroArrays. seqone.com/news/introduci… Don't miss this opportunity to connect with our team! We're looking forward to engaging discussions about the future of genetic diagnostics and sharing our latest innovations. See you in Porto! 🧬 #SPGH2024 #SPGH #Genomics #NGS #ArtificialIntelligence #PrecisionMedicine #PersonalizedMedicine #GenomicMedicine #VariantInterpretation #MolecularDiagnostics

📣 Live from AMP 2024 in Vancouver! 🇨🇦 The SeqOne team is thrilled to meet you at Booth 526 Join us to explore how we're revolutionizing oncology bioinformatics with our cutting-edge solutions: ▶️ SomaCGP: Unlock complex multigenetic alterations—TMB, MSI, fusions, SNPs, and more—in a single workflow for streamlined analysis. ▶️ SomaHRD: Assess genomic instability from sWGS to personalize ovarian cancer treatment strategies. ▶️ SomaVar: High-precision variant calling for Solid Tumors and Hematologic Malignancies, supporting both hybrid capture and amplicon technologies. Our platform simplifies complex genomic data interpretation for faster, more precise clinical decisions in oncology. Let's discuss how our advanced bioinformatics tools can enhance your workflow and improve patient care in precision oncology! 🧬 See you at Booth 526! 👋 #AMP2024 #Oncology #NGS #PrecisionMedicine #Bioinformatics #Genomics #PersonalizedMedicine

🧬 Bringing Transparency to AI in Genomics: Introducing SeqOne's DiagAI Score Last month, we unveiled DiagAI Score, our cutting-edge AI-powered system for variant ranking. Today, we’re excited to release how the DiagAI Score dashboard delivers unprecedented transparency and precision in variant analysis. 🔍🧬 What makes DiagAI Score different? ▶️ A clear 0-100 scoring system that indicates variant pathogenicity ▶️ Full transparency into how scores are calculated Three powerful components working in harmony: 1. UP² (Universal Pathogenicity Predictor): Trained on over 2.5 million ClinVar variants, UP² provides detailed insights into molecular impacts, with each contributing factor clearly explained. 2. PhenoGenius: Our innovative phenotype matching system visually demonstrates how patient symptoms connect to specific genes, making complex genotype-phenotype relationships instantly clear. 3. Expert-Driven Rules Engine: Built on real-world diagnostic cohorts, our inheritance and quality rules mirror actual clinical practice, with weights assigned based on validated outcomes. The results? In validation studies across 165 diagnostic exomes, DiagAI Score ranked the disease-causing variant first in 74% of cases, 90% in the top three, significantly outperforming existing solutions. But this is more than just a technological advancement. It's about fostering collaboration between AI systems and clinical experts, ensuring that human expertise remains central to genomic medicine. We believe the future of precision medicine lies in explainable AI that empowers rather than replaces clinical expertise. DiagAI Score is our contribution to this vision. Want to see DiagAI Score in action? We're offering free testing opportunities for molecular labs. Contact us to learn more. #Genomics #PrecisionMedicine #AI #Innovation #ExplainableAI #BioinformaticsInnovation

🎯 Proud to announce that the SeqOne Platform has achieved IVDR certification as a Class C medical device! 🚀 This landmark certification from GMED marks a crucial milestone in our mission to advance precision medicine through trusted genomic analysis. As one of the first bioinformatics platforms to achieve this certification, we're setting new standards in clinical genomics. 🔬 Why this matters: • Class C certification represents one of the highest risk classifications for diagnostic software • Built on our ISO 13485-certified Quality Management System • Enables laboratories to confidently transition from RUO to certified clinical solutions For our partners and clients, this certification means enhanced confidence in delivering precise genomic insights for oncology and rare disease diagnostics, backed by a platform that meets the most stringent regulatory requirements. We want to thank our incredible team for their relentless dedication to excellence, our partners for their trust, and our customers for continuously pushing us to innovate while maintaining the highest quality standards. 🔗 Read the full announcement: seqone.com/news/seqone-pl… #PrecisionMedicine #Genomics #IVDR #Innovation #HealthTech #ClinicalDiagnostics #NGS #RareDiseases #Oncology #QualityFirst #RegulatoryExcellence

🇩🇪 Join SeqOne at BVDH in Berlin - Don't miss out! We're excited to participate in the Berufsverband Deutscher Humangenetiker (BVDH) Conference happening on November 15th and 16th in Berlin! 🧬 📍Visit our booth to experience live demonstrations of our state-of-the-art NGS analysis platform for Panels, Exomes and Genomes, highlighting the most recent advancements in genomic diagnostics: ▶️ SeqOne DiagAI: Witness AI-driven, lightning-fast variant interpretation featuring prioritized candidate lists, enhancing genomic data analysis efficiency. seqone.com/resources/effi… ▶️ SeqOne germVar: Explore AI-enhanced whole genome variant interpretation tailored for Oxford Nanopore data. seqone.com/news/oxford-na… ▶️ Our expertise in assisting labs with smooth transition from Alissa (including transition projects, MVL imports, historical data integration, and more) ▶️ GenomeAlert!: Transforming variant reevaluation through our innovative curation layer. seqone.com/news/genomeale… ▶️ SeqOne CGH Array Interpretation: Discover our cloud-based solution optimized for Agilent's CGH MicroArrays. seqone.com/news/introduci… We're eager to engage with fellow genomics professionals, exchange knowledge, and collaboratively explore the future of genetic research and diagnostics. We look forward to seeing you in Berlin! #BVDH2024 #BVDH #Genomics #NGS #ArtificialIntelligence #PrecisionMedicine #PersonalizedMedicine #GenomicMedicine #VariantInterpretation #MolecularDiagnostics

🌟 Live from ASHG 2024 ❄️, the SeqOne team can’t wait to meet you at booth 1002! 🇺🇸 Join us to explore how we’re transforming NGS clinical decision support with our innovative solutions: ▶️ SeqOne DiagAI: AI-powered, rapid variant interpretation with prioritized candidate lists for streamlined analysis. ▶️ SeqOne germVar: Enhanced whole genome variant interpretation for Oxford Nanopore data. ▶️ Seamless Lab Transitions: Support for smooth transitions, including data integration and MVL imports. ▶️ GenomeAlert!: Automated variant reevaluation for better patient outcomes. ▶️ CGH Array Interpretation: Cloud-based, optimized for Agilent's CGH MicroArrays. Our platform simplifies complex genomic data interpretation for faster, more precise clinical decisions. Let’s talk about how our AI-powered tools can enhance your workflow and improve patient care! See you at Booth 1002! 👋 #ASHG2024 #Germline #NGS #PersonalizedMedicine #PrecisionMedicine #GenomicsRevolution #Oncology @GeneticsSociety

🧬 We can’t wait for AMP 2024! 🇨🇦 SeqOne is looking forward to attending the Association for Molecular Pathology (#AMP2024) annual meeting in Vancouver from November 20th to November 23rd. Mark your calendars and come meet us! 📍 Come by Booth 526 to learn more about our Oncology solutions: ▶️SomaCGP: our powerful bioinformatics solution to unlock complex multigenetic alterations—including TMB, MSI, fusions, SNPs, and more—within a single workflow, prioritizing variants to streamline and accelerate your laboratory’s analysis. ▶️SomaHRD: a versatile, cost-efficient, and clinically-validated pipeline that assesses genomic instability from sWGS to personalize treatment strategies in ovarian cancer. ▶️SomaVar: our answer for high precision variant calling for Solid Tumors and Hematologic Malignancies: a solution for confident SNPs, CNVs, and DNA fusion calling, supporting both hybrid capture and amplicon technologies. We look forward to connecting with you and exploring how our advanced bioinformatics solutions can transform your work in precision oncology. See you very soon in Vancouver! #Somatic #Oncology #NGS #PersonalizedMedicine #GenomicsRevolution #PrecisionMedicine #AMP2024 #MolecularPathology #Bioinformatics #Genomics #HealthcareInnovation @AMPath