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Hereditary cancer risk assessment is a rapidly advancing field, driven by the need for comprehensive variant detection, streamlined genomic workflows, and alignment with evolving guidelines. In the UK, testing is delivered through the NHS Genomic Laboratory Hub network, with each lab supporting a broad range of clinical indications under the National Genomic Test Directory. This webinar will highlight the experience of the West Midlands Genomic Laboratory in implementing a next-generation sequencing (NGS) solution for hereditary cancer. The session will detail how transitioning to the SOPHiA DDM™ Platform enabled the lab to improve turnaround, reduce hands-on time, and enhance variant detection. Featuring a practical walkthrough of the SOPHiA DDM™ analysis workflow, the presentation will guide attendees through each stage — from quality control to the identification of challenging variants — concluding with a preview of the new generation of SOPHiA DDM™ platform and a glimpse into the lab’s future plans for continued innovation.
Learning Objectives
As the global healthcare research landscape evolves at lightning speed, we need to change the way we approach healthcare data by breaking down silos, fostering knowledge sharing, and democratizing access to anonymized real-world health insights. And as the volume and complexity of healthcare data continue to grow, the integration of next-generation data analytics and artificial intelligence is reshaping germline variant analysis, offering researchers the tools to uncover actionable insights, streamline processes, and tackle some of the field’s most pressing challenges.
This webcast will explore how to unlock the potential of germline research with cutting-edge advancements in AI-powered workflows, highlighting the New Generation SOPHiA DDM Platform.
Built by users, for users, this AI-powered platform unites healthcare institutions worldwide, paving the way for a future of collective intelligence in precision medicine by streamling sequencing data analysis and interpretation, simplifying variant prioritization, and accelerating reporting.
What will you learn?
Watch on-demand the webinar “Maximizing Efficiency: Implementing an Enhanced Exome Solution Across Multiple Indications”, where Dr. Eirikur Briem, Head of Department of Genetics and Molecular Medicine at the Landspitali University Hospital in Ireland presents his institute’s experience in implementing the SOPHiA DDM™ Enhanced Exome Solutions.
Filmed as part of the Swiss Biotech Day on May 5th 2025.
An engaging panel discussion on the transformative role of AI-powered technology in building scalable, high-performance healthcare solutions. Discover how collaboration drives innovation and advances precision medicine.
Discussion summary:
Artificial intelligence and big data are revolutionizing biotech and healthcare, driving breakthroughs in precision medicine, clinical decision-making, and drug discovery. This panel showcases how adaptive our autonomous AI models enhance decision-making and improve industry performance and productiivity. Additionally, the discussion will emphasize the importance of robust AI infrastructure in creating scalable, high-performance healthcare solutions, while also highlighting the necessity of strong, high-quality data for accurate AI concepts.
Experts will delve into advancements in clinical development productivity, patient data analytics, AI-powered diagnostics, and the agent-based concepts, while also highlighting local initiatives designed to foster collaboration and innovation in healthcare AI.
Moderator:
Panellists:
The diagnostic, prognostic, and treatment landscape of myeloid malignancies is evolving rapidly, with genomic biomarkers increasingly defining disease diagnosis and classification. Given the continuous discovery and refinement of genomic testing requirements in the context of changing (targeted) therapies and reimbursement recommendations, there is an increasing need for genomic solutions that keep pace with clinical and regulatory demands while remaining adaptive and flexible for future advancements.
In this webinar, Weei-Yuarn Huang, medical director for molecular diagnostics, and Hubert Tsui, head of hematological pathology, precision diagnostics and therapeutics program at the Sunnybrook Health Science Centre, will explore their recent experiences providing accurate, timely genomic results in myeloid malignancies and potential new solutions that will further enhance relevant biomarker delivery for hematology physicians and patients.
Comprehensive genomic profiling (CGP) using a matched tumor-normal approach can help improve somatic detection rate and streamline interpretation.
MSK-IMPACT® powered with SOPHiA DDM™ is a CGP solution that leverages matched tumor-normal sequencing to filter germline variants and may also identify clonal hematopoietic variants, revealing mutations of true somatic origin. The end-to-end application combines the clinical expertise of Memorial Sloan Kettering Cancer Center (MSK) with the robust analytics of SOPHiA DDM™.
Join us and MSK to:
MSK-IMPACT is a targeted tissue-based sequencing test for comprehensive genomic profiling. MSK-ACCESS is a liquid biopsy test that enables non-invasive profiling and longitudinal disease monitoring. Together, they provide robust insights that help guide treatment decisions for improved outcomes in patients with advanced cancer. Unlike most tests, MSK leverages matched tumor-normal sequencing to remove germline and clonal hematopoietic variants, revealing genomic alterations of true somatic origin.
In this webinar, A. Rose Brannon, director of clinical bioinformatics at MSK, and Anita S. Bowman, associate director of clinical bioinformatics at MSK, will:
Measurable Residual Disease (MRD) is a crucial biomarker for analyzing and tracking tumor evolution, evaluating treatment effectiveness, and predicting relapse in acute myeloid leukemia (AML). Among the various technologies used to detect MRD, next-generation sequencing stands out for its exceptional sensitivity and specificity.
In this webinar, Silvia Salmoiraghi, biologist at ASST Papa Giovanni XXIII Hospital in Bergamo, Italy, discuss the performance of the SOPHiA DDM™ Residual Acute Myeloid (RAM) Solution.
SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native healthcare technology company and a global leader in data-driven medicine, recently joined the European Liquid Biopsy Society (ELBS), a prestigious network consisting of partners from academia and industry with the common goal of making liquid biopsy tests part of the routine standard of care.
SOPHiA GENETICS offers a comprehensive suite of liquid biopsy applications that are helping to progress oncology research and tumor mutation profiling. Liquid biopsy offers an alternative to solid tumor testing by isolating cell-free DNA (cfDNA) from blood plasma. This testing approach allows for non-invasive cancer genomic profiling and disease monitoring, revealing critical insights in cases where tissue biopsy may not be feasible. However, liquid biopsy still faces challenges, including workflow standardization and broad adoption across the globe.
Building on the momentum of the recent launch of MSK-ACCESS® powered with SOPHiA DDM™ earlier this year, we would like to develop a community of knowledge, where peers can connect, share experiences, and hear the latest updates regarding the implementation of decentralized Memorial Sloan Kettering Cancer Center (MSK) applications.
In this webinar, attendees will:
➡️ Learn more about Memorial Sloan Kettering Cancer Center’s and
SOPHiA GENETICS’s strategies to lower liquid biopsy hurdles.
➡️ Learn more about the evolution of MSK-ACCESS® assay.
➡️ Hear about the evidence-generation efforts to demonstrate the clinical utility of MSK-ACCESS® powered with SOPHiA DDM™
➡️ Gain insights into new analytical performance data from early adopters across Europe
➡️ Get the latest updates and discuss our initiative to facilitate sample sharing among centers
So, how can you streamline your genomic analysis, to make it quicker, easier, and more efficient?
In this webinar you will learn how Alamut™ Visual Plus enables clinical researchers to:
➡️ Resolve splice-site variants using splicing scores and exonic splicing enhancer binding site predictors in a visual interface.
➡️ Conduct familial variant analysis (FVA) for prioritization of germline variants, by excluding those that do not follow Mendelian inheritance patterns.
➡️ Utilize trusted databases, predictors, publications and guidelines, such as the ACMG criteria, for effective genomics interpretation.
➡️ Enhance interpretation through Alamut™ Visual Plus which offers comprehensive annotations and visualization of breakpoints and coverage across different file types in a full genome browser.
➡️ Better understand the significance of a guideline-driven approach to variant nomenclature for consistent analysis and reporting.
Additionally, Rolph Pfundt, a Clinical Molecular Geneticist at Radboud University Medical Centre in the Netherlands, will share insights into his variant interpretation workflow. He will also highlight how Alamut™ Visual Plus enables the identification of complex variants with greater ease and precision.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us to obtain the appropriate product information for your country of residence.
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