Nanopore-based cytogenetic analysis is taking concrete steps toward clinical adoption. Swiss biotech 4bases, in collaboration with Alberto Magi (Professor of Bioengineering, University of Florence), has launched pilot studies in two Italian hospitals to validate KaryoSolver, a real-time workflow for copy number variant (CNV) detection based on nanopore sequencing.
This is the essence of a new article published in GenomeWeb, which is suggesting a potential shift from CGH arrays to real time CNV analysis.
The studies, initiated in December at Careggi University Hospital (Florence) and the public hospital system in Vicenza, aim to assess KaryoSolver’s performance on real-world prenatal samples, analyzed in parallel with conventional array-CGH. Each site will process 100 prospective prenatal cases with abnormal ultrasound findings.
“We want to be confident that this is an approach that can be extended to standard diagnostic labs,” Magi said, noting that the pilots are designed to generate robust clinical evidence on reproducibility, turnaround time, and resolution. The results are expected to be published after the projects conclude this quarter.
KaryoSolver consists of two proprietary components developed by 4bases: KaryoPrep for library preparation and the KaryoSolver software for real-time data analysis; data analysis is performed in real time via 4eVar, 4bases’ proprietary cloud platform. As Fabio Grandi, COO of 4bases, emphasizes, “we own and will commercialize the full end-to-end workflow, with market launch planned for Q2”, adding that “while prenatal diagnostics is the initial focus, we are also exploring applications in oncohematology, where rapid and cost-effective CNV profiling is increasingly relevant”.
In the GenomeWeb article, Prof. Magi emphasized the potential benefits of KaryoSolver from both an economic and clinical standpoint, underlying the advantages of the whole-genome sequencing approach in overcoming array probe limitations.
If successful, KaryoSolver could mark a meaningful shift in clinical cytogenetics, signaling that long-read sequencing is ready to move from proof-of-concept to routine diagnostic use.
#Genomics #Cytogenetics #NanoporeSequencing #LongReadSequencing #CNV #PrenatalDiagnostics #ClinicalGenomics #MolecularDiagnostics #IVDR #HealthTech #MedTech
