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

SOPHiA GENETICS is thrilled to return for ACMG 2025! Visit us at booth #322 to learn more about our SOPHiA DDM™ and Alamut™ Visual Plus platforms for rare and inherited diseases.

Exhibit Theater
Friday, March 21.
11:20 am – 11:50 am.
Theatre 2

Elexandra Barboza Arguedas, National Children’s Hospital, CCSS, University of Costa Rica, University of Medical Sciences.

Sevana Yaghoubian, MSc - Senior Director of Product Management, SOPHiA GENETICS.

Discover how our AI-powered platform is transforming germline variant analysis and interpretation, enabling scientists to uncover actionable insights with unmatched accuracy and efficiency. This session showcases the innovative features of the new-generation SOPHiA DDM™ Platform and the latest advancements in Alamut™ Visual Plus, purpose-built to optimize workflows and drive impactful outcomes.

Through the perspective of a medical laboratory scientist, discover SOPHiA DDM™’s capabilities for hereditary cancer and exome applications. Experience how its dedicated features set new standards in the assessment of even the most challenging variants and get an exclusive look at exciting functionalities debuting this year.

SOPHiA GENETICS is thrilled to be back at ESHG 2025! Come meet our team to learn how SOPHiA GENETICS can help turn complex generic data into life-changing Insights! 

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. 

Join us for an enlightening webinar on the evolution of pharmacogenetics, from its historical roots to the impact of groundbreaking innovations and the establishment of specialist foundations. We will explore the introduction of crucial guidelines and annotations that have paved the way for the development of key technologies and solutions in this field. Learn how utilizing next-generation sequencing (NGS) in pharmacogenetics can prevent serious adverse drug reactions and facilitate personalized drug selection and dosing decisions.

Nicolas Picard will share insights into how the French National Network of Pharmacogenetics (RNPGx) is spearheading advancements in pharmacogenetics and how they collaborated with SOPHiA GENETICS to develop a state-of-the-art PGx Solution. Professor Picard will discuss the applications of pharmacogenetics in psychiatry and oncology, presenting practical cases that highlight the real-world impact and value of these advancements.​​

Featured Presenter:

Nicolas Picard
Professor of Pharmacology, President of RNPGx, Limoges University, France

At SOPHiA GENETICS, we collaborate with genetic experts to develop specialized next-generation sequencing (NGS) applications that seamlessly integrate into any laboratory workflow. In this Webinar our partners share how the analytical technology and dedicated features in the SOPHiA DDM™️ Platform have enabled the accurate detection and streamlined assessment of variants associated with Rare Diseases and Pharmacogenomics.​

Discover how the SOPHiA DDM™️ Platform seamlessly integrated into routine NGS workflows for Pharmacogenetic analysis.​

This talk took place at on June 11th in Glasgow, UK at the European Society of Human Genetics (ESHG) Conference 2023.​​

Featured Presenter:

Robert C. Akkers

Molecular Biologist at Result Laboratorium, Dordrecht, Netherlands

After my PhD at the department for Molecular Biology in Nijmegen, I continued my career as an application specialist genomics (NGS). During this work I got really enthusiastic about the field of molecular diagnostics. After a nice postdoc position at the Department of Genetics in Wageningen I got the chance to pursue my true passion and became a molecular biologist at Result Laboratorium (Clinical Chemistry) and the Department for Pathology in Dordrecht. Besides my role in routine diagnostics I enjoy implementing new techniques and new panels for molecular diagnostics.

A major challenge in precision medicine is quick, reliable identification of potentially disease-causing genetic variants.  

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.

SOPHiA DDM™ Overview
Unlocking Insights, Transforming Healthcare
Learn About SOPHiA DDM™ 
SOPHiA DDM™ for Genomics

Oncology 

Rare and Inherited Disorders

Add-On Modules

SOPHiA DDM™ for Radiomics
Unlock entirely novel insights from your radiology images
Learn About SOPHiA DDM™ for Radiomics 
SOPHiA DDM™ for Multimodal
Explore new frontiers in biology and disease through novel insights
Learn About SOPHiA DDM™ for Multimodal
Professional Services
Accelerate breakthroughs with our tailored enablement services
Learn About our Professional Services