Accurate and rapid single nucleotide variation detection in PCSK9 gene using nanopore sequencing
The proposed nanopore-based SNV identification workflows may support the development of long-read, targeted gene panels, offering a promising tool for both diagnostic and discovery applications, particularly in multi-gene settings such as oncology and cardiology.
Authors
- Ilaria Massaiu (ORCID: https://orcid.org/0000-0001-5805-1909)
- Veronika A. Myasoedova (ORCID: https://orcid.org/0000-0001-8414-5300)
- Francesca Bertolini (ORCID: https://orcid.org/0000-0003-4390-0394)
- Valentina Rusconi
- Vincenza Valerio (ORCID: https://orcid.org/0000-0002-6344-267X)
- Paolo Poggio (ORCID: https://orcid.org/0000-0002-7225-3379)
- Donato De Giorgi
Institutions
- University of Milan (IT)
- Centro Cardiologico Monzino (IT)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-08-26
- DOI
- https://doi.org/10.3389/fmed.2025.1620405
- Primary Topic
- Nanopore and Nanochannel Transport Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute
- Fondazione Gigi e Pupa Ferrari