Genomize at the 16th International Symposium on Variants in the Genome

Picture of Ayse Bade Tanyolac

Ayse Bade Tanyolac

ISV 2026 took place in Leuven this May, bringing together the genomics community for four days of scientific sessions, discussions, and knowledge sharing. Genomize attended as a sponsor, participating in the scientific program with a hands-on workshop and a satellite presentation, and meeting fellow researchers and clinicians at our booth throughout the conference.

Here is a closer look at the topics we brought to Leuven this year.
Collage of audience members attending Genomize’s hands-on workshop and satellite presentation at ISV 2026. The images show participants listening attentively, asking questions, and engaging in discussions during the rare disease genomics sessions held in Leuven, Belgium.

Optimizing NGS Analysis Workflows in Clinical Practice: Diagnosing Rare Diseases with Genomics, Deep Phenotyping, and AI

During a hands-on workshop, participants explored the SEQ Platform across the full tertiary analysis process, from variant calling and filtering to ACMG classification, CNV analysis, and clinical report generation. 

 

The session gave attendees direct experience with features including real-time literature search, customizable reporting, and multilingual report generation. The workshop also opened up practical discussions on implementation and day-to-day variant interpretation workflows.

 

Diagnosing Rare Diseases with Genomics, Deep Phenotyping, and AI

Our satellite presentation focused on the diagnostic journey of patients with rare and undiagnosed conditions. Drawing on real-world data from 215 diagnosed whole exome cases, we demonstrated how the SEQ Platform’s AI-driven prioritization algorithm identifies the causative variant within prioritized tiers with 97.3% accuracy. We also showed how integrating phenotypic data through HPO terms, alongside automated aggregation from over 120 databases, enables more confident and efficient variant interpretation across diverse patient populations.

Promotional graphic summarizing Genomize’s participation at ISV 2026 in Leuven, Belgium, with a focus on rare disease genomics. The design features photographs from the event, including a conference presentation and a hands-on workshop demonstrating the SEQ Platform for genomic data analysis and rare disease variant interpretation. A central panel reads “From the floor at ISV 2026 – Highlights from Our Hands-On Workshop and Satellite Presentation,” with the event date of May 20, 2026. Event branding, sponsor logos, stained-glass windows, and presentation screens showcasing genomic analysis software and rare disease diagnostic workflows are visible throughout the venue.

Thank you ISV!

We left Leuven grateful for the meaningful connections made throughout the conference. Thank you to the ISV 2026 organizing committee for a well-organized and scientifically rich event, and to everyone who stopped by our booth, participated in our workshop, or attended our presentation. We look forward to seeing you at the next ISV.

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