: Targeted next-generation sequencing combined with a structured interpretative framework integrating gene-disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying this condition.
From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort
Giannella, Alessandra;Vianello, Fabrizio;Binotto, Gianni;Ceccato, Jessica;Carraro, Samuela;Cinetto, Francesco;Cellini, Alessandro;Piazza, Francesco;Visentin, Andrea;Ageno, Walter;Trentin, Livio;Ceolotto, Giulio
2026
Abstract
: Targeted next-generation sequencing combined with a structured interpretative framework integrating gene-disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying this condition.
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