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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?
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:
Decoding Complexity – Overcoming Real-World Challenges in Variant Analysis
Join us for the second episode of our webinar series, where we delve deeper into the complexities of variant analysis. Our esteemed bioinformatics experts will share practical solutions to real-world challenges in this field. Embark on a journey with us as we explore the advanced strategies employed by the SOPHiA DDM™ Platform to detect challenging variants associated with cancers and rare inherited disorders.
Episode 2: Advanced Techniques for Detecting Low Allele Frequency Variants
In this session, we are privileged to host two experts from SOPHiA GENETICS: Lin Song, Director of Algorithm Development, and Yvan Wenger, Manager of Bioinformatic Product Development. The focus of this webinar will be our SOPHiA DDM™ algorithm PEPPER™, which is our proprietary SNV and Indel detection technology. PEPPER™ utilizes a range of techniques to distinguish true signals from noise, ensuring precise variant calling.
Lin will highlight the strategies PEPPER™ employs to detect low allele frequency variants, by ensuring accurate distinction from library preparation and sequencing noise. This capability is crucial, especially in liquid biopsy. Yvan will present a use case demonstrating how PEPPER™ addresses the technical challenges of liquid biopsy, focusing on our application MSK-ACCESS powered with SOPHiA DDM™.
Don’t miss this chance to gain insights into our innovative methodologies for distinguishing signal from noise for low allele frequency variants.
Prepare to embark on an enlightening journey as we tap into the wealth of knowledge possessed by our esteemed bioinformatics experts, who will be sharing practical solutions to real-world challenges in variant analysis. Each installment of this webinar series will explore the strategies employed by the SOPHiA DDM™ Platform to effectively detect challenging variants associated with cancers and rare and inherited disorders.
In this session, we are excited to introduce you to Xiaobin Xing, Director of Bioinformatics, boasting over a decade of invaluable experience at SOPHiA GENETICS. Xiaobin will explain how signal amplification and noise suppression can increase the analytical performance of NGS applications. He will present examples of the strategies employed by SOPHiA DDM™ to accurately detect challenging variants important for specific applications from liquid biopsy to homologous recombination deficiency, and pharmacogenomics to RNA sequencing for fusion detection.
Multiple in-house algorithms are deployed in SOPHiA DDM™ to universally detect challenging variants with high accuracy regardless of sample type, DNA extraction technique, library preparation technology, or sequencing platform. Don’t miss this opportunity to uncover the secrets of our proprietary methodologies for detecting challenging variants. Tune in now!
This panel discussion took place at BioData World Congress in Basel, Switzerland on 09 November.
Data integration and AI/ML are seemingly everywhere and are increasingly recognized as critical to accelerating the advancement of precision medicine.
Healthcare institutions and BioPharma companies aim to make more informed decisions by combining a diversity of data modalities with the longitudinal follow-up of patients from diagnosis to treatment and outcomes, with the goal of better understanding the patient journey and identifying optimal subpopulations for care.
Agenda
The essential questions addressed in this on-demand webinar include the following:
Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. 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 at [email protected] to obtain the appropriate product information for your country of residence
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.