{
  "abstract": "Whole-genome sequencing (WGS) has been shown to improve diagnosis beyond standard-of-care genetic tests and guide precision treatment for childhood cancer. While WGS is now offered for children with suspected cancer in England, clinical workflows typically return results after several weeks whereas clinical decisions are often required within days. Here we evaluate feasibility and efficacy of a rapid WGS (rWGS) research workflow with streamlined bioinformatics to deliver clinical genomic findings (NCT07201038, Active, not recruiting). In 54 children with suspected or confirmed malignancy, rWGS reduces mean end-to-end turnaround time from 42 to 3 days, whilst increase variant detection rate. Whereby rWGS detected 147 of 155 (95%) clinically actionable variants identified in the cohort, standard of care testing detected 138 of 155 (89%) variants. In a subset of 35 patients assessed prospectively, clinicians report that in 17 (49%), rWGS either (i) facilitates faster access to targeted therapy and risk stratification, or (ii) avoids unnecessary investigations and treatment escalation. These findings indicate feasibility and suggest clinical utility of rWGS when deployed as a first line diagnostic test in pediatric oncology.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 40,
  "authors": [
    {
      "name": "Aditi Vedi",
      "orcid": "0000-0001-6761-6510"
    },
    {
      "name": "Jamie Trotman",
      "orcid": "0000-0002-6246-4121"
    },
    {
      "name": "Joao M. L. Dias",
      "orcid": "0000-0002-8451-3537"
    },
    {
      "name": "Martina Mijuskovic"
    },
    {
      "name": "Sera Choi"
    },
    {
      "name": "Laura Kingham"
    },
    {
      "name": "Rachel A. Moore"
    },
    {
      "name": "Sarah M. Leiter",
      "orcid": "0000-0001-8321-3260"
    },
    {
      "name": "Rowena Guermech"
    },
    {
      "name": "Amanda Semerene"
    },
    {
      "name": "Aviva Grisby"
    },
    {
      "name": "Sophie Wool"
    },
    {
      "name": "Victoria Joslin"
    },
    {
      "name": "Arunthethy Mahendrayogam"
    },
    {
      "name": "Jonathan Abrams",
      "orcid": "0000-0002-4044-6969"
    },
    {
      "name": "Michael Gattens"
    },
    {
      "name": "Esther Blanco"
    },
    {
      "name": "Emmy L. Dickens"
    },
    {
      "name": "Charlotte Burns"
    },
    {
      "name": "Matthew J. Murray",
      "orcid": "0000-0002-4480-1147"
    },
    {
      "name": "John A. Tadross",
      "orcid": "0000-0002-8424-1252"
    },
    {
      "name": "Claire Trayers"
    },
    {
      "name": "Catherine E. Hook",
      "orcid": "0000-0002-0450-7656"
    },
    {
      "name": "Jennifer Becq"
    },
    {
      "name": "Taksina Newington"
    },
    {
      "name": "Ivana Armogida"
    },
    {
      "name": "Zoya Kingsbury"
    },
    {
      "name": "Pascal Grobecker",
      "orcid": "0009-0001-8339-4775"
    },
    {
      "name": "Ines Vitoriano"
    },
    {
      "name": "Mitchell A. Bekritsky"
    },
    {
      "name": "Jacqueline Weir"
    },
    {
      "name": "Louise J. Fraser",
      "orcid": "0000-0001-9709-6827"
    },
    {
      "name": "Mark Ross"
    },
    {
      "name": "David Bentley"
    },
    {
      "name": "Matthew Cullen"
    },
    {
      "name": "Sam Behjati",
      "orcid": "0000-0002-6600-7665"
    },
    {
      "name": "Jack Bartram"
    },
    {
      "name": "Sean J. Humphray"
    },
    {
      "name": "Patrick Tarpey",
      "orcid": "0000-0002-2042-4543"
    },
    {
      "name": "David Rowitch",
      "orcid": "0000-0002-0079-0060"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/f7nwydzgrertm.bib",
  "cited_by": 0,
  "doi": "10.1038/s41467-026-77918-x",
  "fulltext_url": null,
  "id": "f7nwydzgrertm",
  "issns": [
    "2041-1723"
  ],
  "landing_url": "https://www.nature.com/articles/s41467-026-77918-x",
  "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",
      "1306|Cancer Genomics and Diagnostics"
    ]
  ],
  "openalex": "W4415297001",
  "pdf_url": "https://www.nature.com/articles/s41467-026-77918-x.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-06",
  "publisher": "Springer Science and Business Media LLC",
  "ris": "https://research.draconitic.com/paper/f7nwydzgrertm.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:38Z",
      "native_id": "10.1038/s41467-026-77918-x",
      "source": "crossref",
      "url": "https://www.nature.com/articles/s41467-026-77918-x"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:1306|Cancer Genomics and Diagnostics",
      "subfield": "oncology"
    }
  ],
  "title": "Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis",
  "title_text": "Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:38Z",
  "url": "https://research.draconitic.com/paper/f7nwydzgrertm",
  "venue": "Nature Communications",
  "versions": []
}