Open access
Aug 2026
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.
A streamlined minigene-based workflow for rapid functional evaluation of splicing variants and a robust and scalable framework for functional interpretation of splicing variants is developed, improving diagnostic resolution and supporting more informed clinical decision-making in hereditary cancer genetics.
Noemi Calandra, Elisabetta Mereu, P. Ogliara et al.
· Journal of Medical Genetics · 0 citations