Accurate and rapid single nucleotide variation detection in PCSK9 gene using nanopore sequencing

Accurate and rapid single nucleotide variation detection in PCSK9 gene using nanopore sequencing

BackgroundGenetic testing is essential for disease screening, diagnosis, prognosis, and pharmacotherapy guidance. Oxford Nanopore Technologies (ONT) offers a cost-effective platform for long-read sequencing, yet its routine use in clinical diagnostics remains under evaluation. We tested different na...

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Bibliographic Details
Main Authors: Ilaria Massaiu, Vincenza Valerio, Valentina Rusconi, Francesca Bertolini, Donato De Giorgi, Veronika A. Myasoedova, Paolo Poggio
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Medicine
Subjects:
third-generation sequencing
nanopore sequencing
single nucleotide variation
variant calling
PCSK9
cardiovascular disease
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1620405/full
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https://www.frontiersin.org/articles/10.3389/fmed.2025.1620405/full

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