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Whole-exome sequencing (WES) is widely used in both clinical and research settings, but current implementations require trade-offs between genomic breadth, sensitivity, and workflow complexity. As a result, labs typically maintain multiple assays to meet different kinds of testing.
In this GEN webinar, Guilherme Yamamoto, MD, PhD, and Sevana Yaghoubian will present a novel whole-exome assay for detecting high-confidence variants across multiple applications. Using examples from rare diseases, newborn and carrier screening, and targeted analysis for cardiovascular, neurological, ocular, and metabolic disorders, they will explore how combining targeted probe enhancements with robust analytics improves performance in challenging genomic regions. They will also discuss how these enhanced exome assays can extend beyond germline testing through secondary screening for common somatic variants in hematologic cancers. Key takeaways from the webinar include:
Speakers:
Guilherme Yamamoto, MD, PhD
Head of Genomics and Bioinformatics Innovation
Dasa
Sevana Yaghoubian, MSc
Senior Director Genomics
SOPHiA GENETICS
Speaker: Persephone du Parcq, Lead Clinical/Translational Scientist, Synnovis, UK
In this webinar, Dr. Persephone du Parcq shares how Synnovis has deployed the "MSK-ACCESS™ powered with SOPHiA DDM™ to support precision oncology through minimally invasive liquid biopsy testing.
The webinar explores current clinical applications of ctDNA analysis, its demonstrated utility in routine healthcare, and key considerations around assay selection, validation strategies, and interpretation challenges including germline findings and clonal haematopoiesis. Practical insights into clinical impact, operational achievements to date, and lessons learned from clinical implementation are also discussed.
Finally, the session looks ahead to future directions for liquid biopsy in oncology, including opportunities to expand clinical adoption and improve patient care through advanced genomic technologies.
In this webinar, PD Dr. Daniel Kazdal, Head of Technology and Assay Development at the Center for Molecular Pathology, Universitätsklinikum Heidelberg, provides a practical overview of liquid biopsy testing in routine molecular diagnostics.
The session explores the clinical value of liquid biopsy, key challenges in result interpretation—particularly the impact of clonal hematopoiesis (CHIP) and real-world experience with decentralized MSK-ACCESS® testing powered by SOPHiA DDM™ at Heidelberg University Hospital. Through workflow insights and routine case examples, the webinar highlights how liquid biopsy supports accurate data interpretation and informed clinical decision-making, while also outlining future directions for its implementation in precision oncology.
Juan C. Gomez-Gelvez, MD
Section Head, Molecular Hematopathology — Henry Ford Health System
Measurable residual disease (MRD) represents the small number of leukemic cells that persist after treatment—undetectable by morphology yet clinically decisive. MRD status is now recognized as one of the strongest predictive and prognostic biomarkers in acute myeloid leukemia, influencing relapse risk, survival, and post-remission management.
In this on-demand session, Dr. Gomez-Gelvez walks through the principles, practicalities, and impact of using NGS to detect MRD with high sensitivity.
What You’ll Learn
Key Takeaways
Why Watch?
If you’re advancing AML diagnostics or shaping MRD strategies, this session provides clear, practical guidance from clinical concept through real-world application.
Healthcare institutions are under increasing pressure to manage multiple genomic workflows, each with its own unique technical and operational challenges. Disparate processes often create operational inefficiencies, increase costs, and limit the ability to scale precision oncology services.
In this webinar, Guy Froyen, senior NGS scientist, will discuss how Jessa Hospital, Belgium, is addressing these challenges by adopting the SOPHiA DDM™ Platform to harmonize NGS workflows across the hospital’s pathology operations. By standardizing processes — from library preparation through fully integrated analytics — they aim to maintain short turnaround times and streamline operations.
Froyen will highlight the hospital’s experience implementing MSK-IMPACT® Flex powered with SOPHiA DDM™, a modular solution for comprehensive genomic profiling that supports both agile and scalable solid tumor analysis.
Speakers:
Guy Froyen (PhD), Senior NGS Scientist, Jessa Hospital, Belgium
Traditional genomic analysis often requires sequential testing or a “one-size-fits-all” comprehensive genomic profiling (CGP) panel, leading to time-consuming workflows and increased costs. MSK-IMPACT® Flex powered with SOPHiA DDM™ is a modular, end-to-end CGP solution built on the expertly designed content of MSK-IMPACT®. The flexible design enables agile analysis and high-resolution profiling of complex biomarkers (including TMB, MSI, HRD, and gene- and exon-level CNVs) from DNA capture, RNA capture, and low-pass whole genome sequencing.
In this session, you will:
Speakers:
Dr. Rehan Mujeeb Faridi, PhD, HCLD/CC (ABB), Director of Molecular Diagnostics, OncoHelix
Lina Li, Director, Product Management, Application, SOPHiA GENETICS
Izabela Matyszczak, Technical Product Management Expert, SOPHiA GENETICS
Join us for an in-depth session on Alamut™ Visual Plus, an advanced variant interpretation software trusted by genetic research laboratories worldwide. This webinar will provide a comprehensive overview of the software’s capabilities—spanning intuitive visualization, integrated genomic annotations, splicing predictions, and ACMG classification support—designed to streamline and standardize variant review and interpretation.
Through a live demonstration, we’ll walk through key features and workflows that enable users to efficiently navigate NGS data, explore variant impacts in genomic context, and make evidence-based classification decisions. Whether you’re a new user seeking to understand the platform or an experienced user looking to optimize your analysis process, this session will showcase how Alamut™ Visual Plus empowers accurate and confident variant interpretation.
Speaker
Yi Lian - Product Director, Platform at SOPHiA GENETICS
The future of translational research and the most exciting advances are happening at the intersection of AI, multi-omics, biomarker development, and biospecimen strategy, each essential for capturing the biological variability that shapes precision medicine. This panel brings together scientists, technologists, and strategists driving the next generation of biomarker & diagnostic discovery and validation. You’ll hear from leaders at Precision for Medicine, SOPHiA GENETICS, and Olink, part of Thermo Fisher; partners at the forefront of multi-omics integration, AI-powered analytics, genomics and high-plex proteomics as they discuss leading-edge practices and where the field is headed in 2026.
Key Discussion Topics:
Who Should Attend:
Built for biotech, pharma, and diagnostic researchers who are shaping the next generation of precision medicine:
Speakers:
Deb Phippard Chief Scientific Officer, Precision for Medicine
Philippe Menu EVP, Chief Medical Officer & Chief Product Officer, SOPHiA GENETICS
Heng (Tony) Qian Head of Data Science (North America), Olink, part of Thermo Fisher Scientific
Rob Fannon Head of Biospecimen Solutions, Precision for Medicine
Melania Abreu González, MD/MS
Clinical Geneticist & Co-Founder, Genos Médica (Mexico)
Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults across Western countries, but its incidence in Latin America is 3–5× lower, with some of the lowest rates observed in regions with high Amerindian ancestry. In Mexico, CLL represents only 7% of leukemia cases in Mestizo populations, making comprehensive molecular insights rare and highly valuable.
In this focused on-demand session, Dr. Abreu shares new learnings from targeted NGS analysis in the low-prevalence Mexican population and discusses how modern tools can reshape CLL assessment, stratification, and accelerate decision-making.
What You’ll Learn
Why Watch?
Get clear, real-world guidance on optimizing CLL workflows and generating meaningful insights in populations where data is limited.
Liquid biopsy is emerging as a revolutionary technology, offering swift and precise diagnostics. It has the potential to significantly impact precision oncology by providing a non-invasive approach for cancer detection, monitoring, and treatment selection. However, liquid biopsy still faces challenges, including workflow standardization and broad adoption across the globe.
Join us for this webinar to learn more about the collaborative efforts of SOPHiA GENETICS, Memorial Sloan Kettering Cancer Center, and AstraZeneca in enhancing global access to and adoption of MSK-ACCESS® powered with SOPHiA DDM™, aimed at addressing disparities in cancer care.
Key topics:
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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