Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications.

doi:10.1101/gr.280134.124

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Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications.

Genome research - 2 Mar 2026

Arres Judith, Elavalli Santosh, Behl Shalini, Matias Sanchez Daniel, Al Ali Ayesha, Saad Abdelrahman Ahmed Yehia Abdelaziz, Attia Azza, Minas Cyla, Pariyachery Sharika, Ahmed Shariq, Aldhuhoori Fatmah, Thulasidharan Nitu, Katagi Gurunath, Soliman Omar, Purohit Shilp, Kusuma Vinay, Cardenas Raony, Cardoso Thyago, Paulin Luis F, Sanio Philippe, Mafofo Joseph, Wu Haiguo, Zvereff Val, El-Khani Albarah, Al Marzooqi Fahed, Magalhães Tiago R, Sedlazeck Fritz J, Quilez Javier

Abstract excerpt

Long-read sequencing (LRS) technologies, namely, Oxford Nanopore Technologies (ONT) and Pacific Biosciences (PacBio), have emerged as promising solutions to overcome the limitations of short-read sequencing (SRS). Nevertheless, the still higher sequencing error rates compared with SRS, need for customized pipelines, rapidly updating software, and incipient scalability continue to present challenges for adopting...

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PMID: 41672886
DOI: 10.1101/gr.280134.124
PMCID: PMC12951962

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