Menu
Menu
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.
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.
Optimized variant prioritization for enhanced insights: SOPHiA DDM™️ and Alamut™️ Visual Plus in Action.
Are you keen to improve your tertiary analysis?
Discover how SOPHiA GENETICS end-to-end workflows can do just this.
Our webinar covers:
Presented by:
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.
All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.