From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort
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.
Authors
- Simone Zoletto
- Livio Trentin (ORCID: https://orcid.org/0000-0003-1222-6149)
- Alessandro Cellini (ORCID: https://orcid.org/0000-0003-1094-9992)
- Arianna Magrini
- Carmela Gurrieri (ORCID: https://orcid.org/0000-0001-8233-6007)
- Ilaria Gianesello
- Francesco Cinetto (ORCID: https://orcid.org/0000-0001-8486-5850)
- Marco Carraro (ORCID: https://orcid.org/0000-0003-3278-0091)
- Giulio Ceolotto (ORCID: https://orcid.org/0000-0002-4687-8033)
- Francesco Piazza (ORCID: https://orcid.org/0000-0002-2831-623X)
- Fabrizio Vianello (ORCID: https://orcid.org/0000-0002-7174-4651)
- Gianni Binotto (ORCID: https://orcid.org/0000-0003-4571-6611)
- Walter Ageno (ORCID: https://orcid.org/0000-0002-1922-8879)
- Maria Piazza (ORCID: https://orcid.org/0000-0002-6640-5401)
- Nicolò Danesin (ORCID: https://orcid.org/0009-0004-1352-306X)
- Laura Pavan
- Giulia Gualtiero
- Samuela Carraro (ORCID: https://orcid.org/0009-0005-7373-9695)
- valeria carabotta
- Jessica Ceccato
- Andrea Visentin
- Alessandra Giannella
Institutions
- University of Padua (IT)
- Ca' Foncello Hospital (IT)
Publication Details
- Journal
- British Journal of Haematology
- Published
- 2026-06-12
- DOI
- https://doi.org/10.1111/bjh.70597
- Primary Topic
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00