{
  "abstract": "Hereditary ataxias, caused by expansions of short tandem repeats, are difficult to diagnose using traditional PCR and Southern blot methods, which struggle to detect complex repeat expansions and cannot assess repeat interruptions or methylation. An updated Clinical Nanopore Cas9-Targeted Sequencing workflow is presented for analyzing repeat expansions, now compatible with the Oxford Nanopore Technologies R10 flow cell. The workflow incorporates the Oxford Nanopore Technologies wf-human-variation Epi2Me workflow, including the Straglr tool to analyze base-called reads, ensuring compatibility with past, current, and future sequencing chemistries. It expands the number of genes analyzed from 10 to 27 and introduces new gene panels for ataxia, myopathy, neurodegeneration, and amyotrophic lateral sclerosis/motor neuron disease. Validated with Coriell reference and clinical samples, this method improves the analysis of pathogenic repeat expansions, providing deeper insights into repeat structures while addressing the limitations of traditional approaches. In this work, the use of multiplexing, Flongle flow cells, and single-gene targeting were explored as alternatives to panel-based approaches in the Clinical Nanopore Cas9-Targeted Sequencing workflow, finding that only single-gene targeting provides compatibility and reliable performance.",
  "abstract_shown": true,
  "affiliations": [
    "MGZ-Medical Genetics Center, Munich, Germany",
    "MGZ-Medical Genetics Center, Munich, Germany; Friedrich-Baur-Institute, Department of Neurology, Klinikum der Universität, Ludwig-Maximilians-Universität, Munich, Germany",
    "MGZ-Medical Genetics Center, Munich, Germany; Laboratorio de Genética Médica, Instituto de Biomedicina, Facultad de Medicina de Albacete, Universidad de Castilla-La Mancha, Albacete, Spain",
    "Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany",
    "MGZ-Medical Genetics Center, Munich, Germany; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München Campus Innenstadt, Munich, Germany",
    "MGZ-Medical Genetics Center, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München GmbH-German Research Center for Environmental Health, Munich, Germany",
    "MGZ-Medical Genetics Center, Munich, Germany; Friedrich-Baur-Institute, Department of Neurology, Klinikum der Universität, Ludwig-Maximilians-Universität, Munich, Germany; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München Campus Innenstadt, Munich, Germany. Electronic address: morghan.lucas@mgz-muenchen.de"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 22,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Veronika Scholz",
      "orcid": "0000-0001-9259-8406"
    },
    {
      "affs": [
        0
      ],
      "name": "Veronika Schönrock"
    },
    {
      "affs": [
        1
      ],
      "name": "Hannes Erdmann",
      "orcid": "0000-0002-2620-1850"
    },
    {
      "affs": [
        0
      ],
      "name": "Vitus Prokosch",
      "orcid": "0009-0008-5791-3536"
    },
    {
      "affs": [
        0
      ],
      "name": "Maria Schoedel"
    },
    {
      "affs": [
        0
      ],
      "name": "Manuela Almus"
    },
    {
      "affs": [
        0
      ],
      "name": "Mayra Sauer",
      "orcid": "0000-0002-0744-7687"
    },
    {
      "affs": [
        0
      ],
      "name": "Veronika Mayer"
    },
    {
      "affs": [
        0
      ],
      "name": "Eva Breithausen"
    },
    {
      "affs": [
        0
      ],
      "name": "Inga Van Buren",
      "orcid": "0009-0006-7635-5766"
    },
    {
      "affs": [
        0
      ],
      "name": "Christine Dineiger"
    },
    {
      "affs": [
        0
      ],
      "name": "M Golibrzuch"
    },
    {
      "affs": [
        2
      ],
      "name": "Minerva Montero-Hernández"
    },
    {
      "affs": [
        3
      ],
      "name": "Annette Lischka",
      "orcid": "0000-0001-8042-4361"
    },
    {
      "affs": [
        3
      ],
      "name": "Katja Eggermann",
      "orcid": "0000-0002-8706-137X"
    },
    {
      "affs": [
        0
      ],
      "name": "Caroline Heintz",
      "orcid": "0000-0003-3788-5124"
    },
    {
      "affs": [
        4
      ],
      "name": "Ariane Hallermayr",
      "orcid": "0000-0002-6503-1874"
    },
    {
      "affs": [
        0
      ],
      "name": "Teresa Neuhann",
      "orcid": "0000-0002-7731-7335"
    },
    {
      "affs": [
        4
      ],
      "name": "Elke Holinski‐Feder",
      "orcid": "0000-0002-5172-2818"
    },
    {
      "affs": [
        1
      ],
      "name": "Angela Abicht",
      "orcid": "0000-0002-7965-9144"
    },
    {
      "affs": [
        5
      ],
      "name": "Anna Benet‐Pagès",
      "orcid": "0000-0001-6770-1299"
    },
    {
      "affs": [
        6
      ],
      "name": "Morghan C. Lucas",
      "orcid": "0000-0001-7654-9137"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/czyt3b6x6f0v6.bib",
  "cited_by": 7,
  "doi": "10.1016/j.jmoldx.2026.04.007",
  "fulltext_url": null,
  "id": "czyt3b6x6f0v6",
  "issns": [
    "1525-1578",
    "1943-7811"
  ],
  "landing_url": "https://doi.org/10.1016/j.jmoldx.2026.04.007",
  "language": "en",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2804|Genetic Neurodegenerative Diseases"
    ]
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  "openalex": "W7213285359",
  "pdf_url": null,
  "pmcid": null,
  "pmid": "42744283",
  "published": "2026-09-15",
  "publisher": "Elsevier BV",
  "ris": "https://research.draconitic.com/paper/czyt3b6x6f0v6.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T13:21:11Z",
      "native_id": "W7213285359",
      "source": "openalex",
      "url": "https://doi.org/10.1016/j.jmoldx.2026.04.007"
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  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2804|Genetic Neurodegenerative Diseases",
      "subfield": "neuroscience"
    }
  ],
  "title": "Parallel Analysis of Repeat Expansions",
  "title_text": "Parallel Analysis of Repeat Expansions",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T13:21:14Z",
  "url": "https://research.draconitic.com/paper/czyt3b6x6f0v6",
  "venue": "Journal of Molecular Diagnostics",
  "versions": []
}