{
  "abstract": "Accurate analysis of mitochondrial DNA (mtDNA) requires reliable quantification of heteroplasmy and robust detection of large-scale deletions. However, routine PCR-based short-read workflows can introduce amplification bias and have limited structural resolution. Here, we developed Nanomito, an amplification-free long-read workflow for full-length sequencing of native mtDNA using Oxford Nanopore Technologies, and compared it with the routine long-range PCR-based Illumina approach in 15 retrospectively selected clinical samples previously characterized in mitochondrial diagnostics. The long-read workflow detected all clinically confirmed causal point variants and identified one low-level m.3243 A > G variant, present at 3.8% heteroplasmy by digital PCR, that was detected only among quality-filtered short-read calls. Relative to digital PCR, long-read heteroplasmy estimates showed a more stable quantitative relationship than the PCR-based short-read workflow. In deletion-positive samples, long-read sequencing confirmed the major deletions detected by routine testing with closely matching breakpoint coordinates and resolved a complex deletion spectrum in one sample. These findings support amplification-free full-length nanopore sequencing as a promising framework for integrated mtDNA variant and deletion analysis.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "name": "Valérie Desquiret-Dumas"
    },
    {
      "name": "Solène Duverger"
    },
    {
      "name": "Patrizia Amati-Bonneau"
    },
    {
      "name": "Xavier Dieu"
    },
    {
      "name": "Delphine Mirebeau-Prunier"
    },
    {
      "name": "Pascal Reynier"
    },
    {
      "name": "Marc Ferré",
      "orcid": "0000-0001-8265-7249"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/f2mrkcqnqtjp3.bib",
  "cited_by": 0,
  "doi": "10.1038/s41598-026-74050-0",
  "fulltext_url": null,
  "id": "f2mrkcqnqtjp3",
  "issns": [
    "2045-2322"
  ],
  "landing_url": "https://www.nature.com/articles/s41598-026-74050-0",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1312|Mitochondrial Function and Pathology"
    ]
  ],
  "openalex": "W7224086984",
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-28",
  "publisher": "Springer Science and Business Media LLC",
  "ris": "https://research.draconitic.com/paper/f2mrkcqnqtjp3.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:36Z",
      "native_id": "10.1038/s41598-026-74050-0",
      "source": "crossref",
      "url": "https://www.nature.com/articles/s41598-026-74050-0"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Mitochondrial Function and Pathology",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Nanomito enables amplification-free full-length analysis of mitochondrial DNA variants and deletions",
  "title_text": "Nanomito enables amplification-free full-length analysis of mitochondrial DNA variants and deletions",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:36Z",
  "url": "https://research.draconitic.com/paper/f2mrkcqnqtjp3",
  "venue": "Scientific Reports",
  "versions": []
}