Events
Exploring the challenges of variant interpretation at SIGU 2025
1 September 2025

On Thursday, September 25, 2025, enGenome will host a dedicated workshop at SIGU 2025 in Rimini, Italy, focusing on one of the most pressing issues in clinical genomics: the interpretation of genomic variants.

The session, which will take place from 12:50 to 13:50 in the Sala della Marina e del Faro, will bring together experts to discuss the real-world difficulties that laboratories and clinicians face when managing increasing volumes of sequencing data and the complexity of rare disease diagnostics.

The workshop will feature:

  • Complex clinical cases in diagnostic practiceProf. Giorgia Girotto (IRCCS Burlo Garofolo, University of Trieste)

  • The latest updates in variant interpretationIvan Limongelli (enGenome)

  • Generative AI to support the scientific communitySusanna Zucca (enGenome)

By bringing clinical cases, technological updates, and reflections on the role of AI into one discussion, the workshop aims to create a space for dialogue on how to make the diagnostic journey more accurate, timely, and efficient.

With the participation of Prof. Giorgia Girotto, the session will provide valuable insights from clinical practice, ensuring that the conversation remains closely tied to the real challenges faced by geneticists and laboratories.

enGenome invites all SIGU participants to join this exchange of ideas, experiences, and perspectives on the future of clinical genomics.


For all the details, head over to SIGU Conference 2025