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?

• The latest breakthroughs in AI applications for germline research
• Strategies for enhancing data accuracy, scalability, and speed
• Real-world examples of how AI-driven workflows are solving complex research problems

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:

• Pablo Nieto, Principal, EMEA Commercial Excellence & AI/ML Solutions, Generative AI for Consulting, IQVIA

Panellists:

• Tom Baker, SVP and GM Switzerland and Israel, IQVIA
• Philippe Menu, EVP, Chief Medical Officer & Chief Product Officer, SOPHiA GENETICS
• Eva-Maria Hempe, Head of Healthcare and Life Sciences EMEA, NVIDIA
• Erwin Böttinger, Director, Wyss Center for Bio and Neuroengineering

We’re thrilled to be back at International Congress of Pathology and Laboratory Medicine (ICPALM 2025)

Join SOPHiA GENETICS at Booth S26 as we showcase our latest breakthroughs in data-driven medicine. Discover how our advanced solutions are transforming clinical insights across Liquid Biopsy, Solid Tumors, Hematologic Malignancies, and more.

We look forward to connecting with you in person in Malaysia!

SOPHiA GENETICS is excited to join the ACGH 2025 Congress in Cartagena, Colombia! Meet us at booth #15 to discover the latest innovations of the New Generation SOPHiA DDM™ Platform, with a special focus on Exome advancements. This event is a key milestone for the scientific and academic community, reinforcing Colombia’s leadership in human genetics. Let’s shape the future of genomics together!

Save the date! Sponsored Academic Lunch

June 12th | 1:00-2:00pm | Room 3

Title
From Data to Diagnosis: The Impact of Enhanced Exomes in Precision Medicine

Speakers

• Carlos Santamaría, Jefe de División de Diagnóstico Molecular, Laboratorio Clínico Hospital Nacional de Niños, San José, Costa Rica
• Sevana Yaghoubian, MSc – Global Product Senior Director, Genomics, SOPHiA GENETICS.

SOPHiA GENETICS is thrilled to be back at this year’s Healthcare Information and Management Systems Society annual meeting. Stop by booth #3460 to meet our team and to learn how our cloud-based SOPHiA DDM™ Platform is empowering clinical researchers to break data silos and improve knowledge sharing.  You can also chat with our experts and dem our SOPHiA DDM™ Platform GEN 2. Stay tuned for more information on our Lunch & Learn presentation. ​

Lunch & Learn​

Wednesday, March 5, 2025 ​
12:30 PM - 1:45 PM PT​
Caesars Forum  ​
Forum 121​

Optimizing genomic analysis workflows by streamlining system integration​

Jitin Asnaani, Chief Product Officer, Rhapsody​
Wiley Gellar, Senior Product Manager, SOPHiA GENETICS​

Next-generation sequencing (NGS) is becoming more cost-effective, delivering deeper actionable insights and driving advancements in precision medicine. However, its rapid growth and increasing adoption in healthcare present significant challenges. Traditional data management methods often operate in silos, resulting in time-consuming processes, limiting scalability, and delaying access to critical insights. In healthcare, the challenge is twofold: it is paramount that sensitive patient data remains highly secure while also being readily accessible to guide time-sensitive decision-making. ​

To meet these demands and streamline genomic workflows, SOPHiA GENETICS joined forces with Rhapsody to develop an edge-deployed integration container for rapid deployment and seamless system integration. Unlike traditional solutions, this approach intelligently places a smaller, containerized engine on client premises to ensure rapid movement of large genomic data sets. This architecture ensures robust security while enabling fast data movement of large Next Generation Sequencing files, providing effortless interoperability, and scalable, repeatable implementation with minimal complexity. ​

Attendees will explore key challenges and opportunities in deploying secure, scalable genomic workflows and improving access to actionable insights while ensuring data integrity and compliance.​

Join us at ESMO 2025! Find out how we advance data-driven medicine, with our cloud-based SOPHiA DDM™ Platform. Discover how it empowers health data interpretation with advanced analytics modules, simplified reporting, and a global community of healthcare institutions.

We are excited to be back at ECP in 2025! Join us and explore more about our recent developments in Liquid Biopsy, CGP, Solid Tumors and more!

SOPHiA GENETICS™ is thrilled to return for Festival of Genomics! Visit us at booth #91 to learn more about the New Generation SOPHiA DDM™ Platform and Alamut™ Visual Plus. 

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.