{
  "abstract": "To evaluate the clinical implementation of long-read genome sequencing (lrGS) and establish the population reference resources needed to support its use in diagnostics, we integrate two complementary initiatives: Genome of Sweden (GoS), Swedens contribution to Genome of Europe (GoE), and the Genomic Medicine Sweden - Rare Diseases (GMS-RD) long-read sequencing pilot. The initial GoS release of 576 individuals provides population-scale maps of genetic and epigenetic variation. Among 485 GMS-RD probands, 161 (33.2%) receive a molecular diagnosis, with lrGS providing added clinical value in 40 (24.8%). As a first-line test, lrGS could have avoided at least 42 follow-up analyses and an additional testing cycle in 7.2% of probands, reducing costs and the burden on patients. By integrating population and clinical long-read genomics, Sweden establishes a national ecosystem for genomic research and clinical diagnostics. Our findings support the clinical implementation of lrGS and offer a scalable model for national collaboration.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": "PUBLISHAHEADOFPRINT",
  "arxiv": null,
  "author_total": 45,
  "authors": [
    {
      "name": "A. Ameur"
    },
    {
      "name": "F. Taylan"
    },
    {
      "name": "M. Ek"
    },
    {
      "name": "J. Eisfeldt"
    },
    {
      "name": "S. Häggqvist"
    },
    {
      "name": "M. Pettersson"
    },
    {
      "name": "I. Bunikis"
    },
    {
      "name": "J. Klar"
    },
    {
      "name": "M. Strandh"
    },
    {
      "name": "R. Josefson"
    },
    {
      "name": "M. Barbaro"
    },
    {
      "name": "A. Beskow"
    },
    {
      "name": "A. Blomberg"
    },
    {
      "name": "M.-L. Bondeson"
    },
    {
      "name": "D. Carlberg"
    },
    {
      "name": "P. Corcoran"
    },
    {
      "name": "I. Duba"
    },
    {
      "name": "R. Ellegard"
    },
    {
      "name": "G. Engström"
    },
    {
      "name": "T. Fall"
    },
    {
      "name": "C. Frykholm"
    },
    {
      "name": "M. Gallardo"
    },
    {
      "name": "S. Gruvberger Saal"
    },
    {
      "name": "A. Gummesson"
    },
    {
      "name": "P. Gustafsson"
    },
    {
      "name": "A. Hagwall"
    },
    {
      "name": "J. Hallin"
    },
    {
      "name": "J. Heintz"
    },
    {
      "name": "H. T. Helgadottir"
    },
    {
      "name": "S. Hellstedt Kerje"
    },
    {
      "name": "V. Henmyr"
    },
    {
      "name": "O. J. Henry"
    },
    {
      "name": "I. Höijer"
    },
    {
      "name": "S. Ivarsson"
    },
    {
      "name": "A. Jemt"
    },
    {
      "name": "T. Jernberg"
    },
    {
      "name": "A. Johansson"
    },
    {
      "name": "M. J. Soller"
    },
    {
      "name": "L. Jonsäll"
    },
    {
      "name": "T. Jonson"
    },
    {
      "name": "F. Jonsson"
    },
    {
      "name": "K. Karrman"
    },
    {
      "name": "A. Kashyap"
    },
    {
      "name": "A. Koc"
    },
    {
      "name": "K"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/30985pm719dbr.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.10.09.26365121",
  "fulltext_url": "https://www.medrxiv.org/content/10.64898/2026.10.09.26365121v1.full",
  "id": "30985pm719dbr",
  "issns": [],
  "landing_url": "https://www.medrxiv.org/content/10.64898/2026.10.09.26365121v1",
  "language": null,
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "medrxiv",
      "genetic and genomic medicine"
    ],
    [
      "openalex",
      "1311|Genomics and Rare Diseases"
    ]
  ],
  "openalex": "W7221674296",
  "pdf_url": "https://www.medrxiv.org/content/10.64898/2026.10.09.26365121v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-09",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/30985pm719dbr.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:45Z",
      "native_id": "10.64898/2026.10.09.26365121",
      "source": "medrxiv",
      "url": "https://www.medrxiv.org/content/10.64898/2026.10.09.26365121v2"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "medrxiv:genetic and genomic medicine",
      "subfield": "human-genetics"
    }
  ],
  "title": "A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden",
  "title_text": "A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden",
  "type": "preprint",
  "updated_at": "2026-10-30T12:21:01Z",
  "url": "https://research.draconitic.com/paper/30985pm719dbr",
  "venue": "medRxiv",
  "versions": []
}