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Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders

Mario Urtis1, Chiara Paganini1, Viviana Vilardo1

  • 1Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.

Genes
|November 27, 2025
PubMed
Summary

Long-read sequencing (LRS) using Oxford Nanopore Technologies (ONT) offers superior detection of complex genetic variants in inherited diseases compared to standard short-read sequencing (SRS). This validation confirms LRS

Keywords:
Oxford Nanopore Technology (ONT)long-read sequencing (LRS)short-read sequencing (SRS)validation

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