Publicação
Ultra-portable Nanopore Sequencing With Adaptive Sampling For Clinical Diagnostics: Preliminary Evaluation Using Monogenic Diabetes As a Model
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | Vaz, Margarida | |
| dc.contributor.author | Gaspar, Gisela | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.contributor.author | Dario, Paulo | |
| dc.date.accessioned | 2026-03-02T15:40:23Z | |
| dc.date.available | 2026-03-02T15:40:23Z | |
| dc.date.issued | 2025-11-22 | |
| dc.description.abstract | Next-generation sequencing is essential in clinical genetics, and Oxford Nanopore technology offers advantages such as portability, rapid analysis, and potential for use outside traditional laboratory environments. This work aimed to evaluate the implementation of the MinION MK1D, operated with a standard laptop, to analyze patients with a targeted 72-gene panel related to monogenic diabetes, using adaptive sampling. Sixteen samples were sequenced, and performance was assessed based on coverage depth and downstream bioinformatic analysis. All samples produced data across the target regions, with an average depth of 2–3×, which limited reliable variant calling. However, interpretable results were still obtained, indicating that with further optimization—such as improved workflow design and enhanced computational resources—Nanopore sequencing could become suitable for decentralized and on-site clinical genetic testing | eng |
| dc.description.sponsorship | Supported by FCT – Fundação para a Ciência e a Tecnologia, project reference [2023.11834.PEX] | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11015 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.rights.uri | N/A | |
| dc.subject | Nanopore Sequencing | |
| dc.subject | Adaptive Sampling | |
| dc.subject | Clinical Genetics | |
| dc.subject | Rare Diseases | |
| dc.subject | Diagnostic Technologies | |
| dc.subject | Genómica Funcional e Estrutural | |
| dc.subject | Doenças Genéticas | |
| dc.title | Ultra-portable Nanopore Sequencing With Adaptive Sampling For Clinical Diagnostics: Preliminary Evaluation Using Monogenic Diabetes As a Model | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.title | 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), 20-22 novembro 2025 | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce |