At the 2026 National Congress of the Italian Society of Human Genetics (SIGU) in Rimini, Prof. Alberto Magi contributed to a packed workshop organized by 4Bases, dedicated to the ongoing transformation in cytogenomics.
During the session, titled "La Citogenetica 2.0: dall'integrazione di CNV, SV e ROH a una nuova interpretazione del genoma", Prof. Magi introduced the foundational computational technology behind KaryoSolver. The project targets a long-standing challenge in clinical genetics: moving beyond traditional cytogenetics toward an integrated, high-resolution diagnostic workflow.
By leveraging Oxford Nanopore long-read sequencing, KaryoSolver enables the simultaneous profiling of key genomic features within a single platform:
- Aneuploidies and Copy Number Variants (CNVs)
- Regions of Homozygosity (ROH)
- Complex Structural Variants (SVs), including structural inversions and balanced translocations.
The workshop highlighted the bridge between computational bioengineering and clinical applications, featuring talks by Daniela Zuccarello, Elisabetta Pelo, and Valentina Favalli, with session moderation by Fabio Grandi. The discussion underscored how combining long-read technology with robust analytical models accelerates the translation of raw sequencing signal into precise diagnostic insights.