{
  "abstract": "Somatic mosaicism is increasingly recognized as a fundamental feature of human biology, yet the detection of somatic mutations remains challenging. The Somatic Mosaicism across Human Tissues (SMaHT) Network conducted large-scale benchmarking experiments involving cell lines and donor tissues to evaluate sequencing technologies, experimental approaches, and computational methods for detecting different types of somatic mutations, generating community resources with >1,000× short-read and 100-400× long-read data for nine analyzed samples. We determined effective strategies for utilizing short- and long-read sequencing for mutation detection and demonstrated that using donor-specific and pangenome-inferred diploid assemblies improved calling, extending mutation catalogs to challenging genomic regions. We benchmarked six duplex technologies and showed that single-cell sequencing resolves cell-type-specific mutational patterns and heterogeneity. Our results indicate that bulk, single-cell, and duplex analyses are complementary and that leveraging all three provides comprehensive characterization of mosaicism within tissues. Together, these findings provide the scientific and clinical communities with a roadmap for accurate genome-wide somatic mutation analysis.",
  "abstract_shown": true,
  "affiliations": [],
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  "author_total": 100,
  "authors": [
    {
      "name": "Alexej Abyzov"
    },
    {
      "name": "Abhiram Natu"
    },
    {
      "name": "Adam Voshall",
      "orcid": "0000-0003-1606-4597"
    },
    {
      "name": "Adriana Estela Sedeño-Cortés",
      "orcid": "0000-0001-7959-8970"
    },
    {
      "name": "Aidan Hugh Burn"
    },
    {
      "name": "Alan P. Boyle",
      "orcid": "0000-0002-2081-1105"
    },
    {
      "name": "Alexander D. Veit",
      "orcid": "0000-0002-3177-0812"
    },
    {
      "name": "Alexander Eckehart Urban",
      "orcid": "0000-0001-9772-933X"
    },
    {
      "name": "Alexandre Pellan Cheng",
      "orcid": "0000-0002-3667-0992"
    },
    {
      "name": "Alexi Runnels"
    },
    {
      "name": "Alisa Mo",
      "orcid": "0000-0002-6435-1227"
    },
    {
      "name": "Amooyla Srinivasa"
    },
    {
      "name": "Amy Leonardson"
    },
    {
      "name": "Andrea J. Kriz",
      "orcid": "0000-0002-3395-4498"
    },
    {
      "name": "Andrew B. Stergachis",
      "orcid": "0000-0002-1299-3674"
    },
    {
      "name": "Andrew J. C. Russell",
      "orcid": "0000-0001-5411-2807"
    },
    {
      "name": "Andrew J. Schroeder",
      "orcid": "0000-0002-5824-7917"
    },
    {
      "name": "Andrew R. D'Avino"
    },
    {
      "name": "Andrew Ruttenberg",
      "orcid": "0009-0003-5876-7378"
    },
    {
      "name": "Ann Caplin"
    },
    {
      "name": "Anna Minkina",
      "orcid": "0000-0002-7989-4478"
    },
    {
      "name": "Areum Cho",
      "orcid": "0000-0001-7403-5597"
    },
    {
      "name": "Arijit Panda",
      "orcid": "0000-0001-5156-6459"
    },
    {
      "name": "Aristotelis Tsirigos",
      "orcid": "0000-0002-7512-8477"
    },
    {
      "name": "Arnaz Maryam Tariq",
      "orcid": "0009-0007-1666-7095"
    },
    {
      "name": "Ayush Semwal",
      "orcid": "0000-0002-7598-6834"
    },
    {
      "name": "Azeet Narayan",
      "orcid": "0000-0003-1820-7934"
    },
    {
      "name": "Azra Hasan"
    },
    {
      "name": "Benjamin Costa"
    },
    {
      "name": "Benjamin K. Johnson"
    },
    {
      "name": "Benno Orr"
    },
    {
      "name": "Benpeng Miao",
      "orcid": "0000-0002-2070-2339"
    },
    {
      "name": "Bianca Morris"
    },
    {
      "name": "Bo Zhou"
    },
    {
      "name": "Boxun Zhao",
      "orcid": "0000-0003-2337-5756"
    },
    {
      "name": "Brad Demarest"
    },
    {
      "name": "B Bernstein",
      "orcid": "0000-0002-5726-6278"
    },
    {
      "name": "Brandt A. Bessell"
    },
    {
      "name": "Brianne Carroll"
    },
    {
      "name": "Brianne E. Livermore"
    },
    {
      "name": "Caitlin N. Jacques",
      "orcid": "0000-0002-7259-4237"
    },
    {
      "name": "Camille Mumm",
      "orcid": "0000-0002-7585-9851"
    },
    {
      "name": "Carlos Mendez‐Dorantes",
      "orcid": "0000-0002-8190-8568"
    },
    {
      "name": "Carolin Purman"
    },
    {
      "name": "Carrie Cibulskis",
      "orcid": "0000-0002-1996-8957"
    },
    {
      "name": "Casey Andrews"
    },
    {
      "name": "Catherine Potenski"
    },
    {
      "name": "Cesar Ferreyra-Mansilla"
    },
    {
      "name": "Chad Tomlinson",
      "orcid": "0000-0001-9905-6159"
    },
    {
      "name": "Charlotte Zhang"
    },
    {
      "name": "Chenghang Zong"
    },
    {
      "name": "Cheuk-Ting Law"
    },
    {
      "name": "Chia‐Lin Wei"
    },
    {
      "name": "BS Chris Oliveira"
    },
    {
      "name": "Christian D. Frazar",
      "orcid": "0000-0002-6730-4426"
    },
    {
      "name": "Christina Missler"
    },
    {
      "name": "Christina Zakarian",
      "orcid": "0009-0003-7619-6433"
    },
    {
      "name": "Christopher A. Walsh",
      "orcid": "0000-0002-0156-2238"
    },
    {
      "name": "Christopher M. Grochowski",
      "orcid": "0000-0002-3884-7720"
    },
    {
      "name": "Christopher Walsh"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/dn0m1f6n0bpc9.bib",
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  "doi": "10.1016/j.cell.2026.09.037",
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  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
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  "pdf_url": "https://www.cell.com/cell/pdf/S0092-8674(26)01135-9.pdf",
  "pmcid": "PMC12632347",
  "pmid": "41279200",
  "published": "2026-10-01",
  "publisher": "Cell Press",
  "ris": "https://research.draconitic.com/paper/dn0m1f6n0bpc9.ris",
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  "title": "Comprehensive benchmarking of somatic mutation detection by the SMaHT Network",
  "title_text": "Comprehensive benchmarking of somatic mutation detection by the SMaHT Network",
  "type": "peer-reviewed",
  "updated_at": "2026-11-05T13:20:47Z",
  "url": "https://research.draconitic.com/paper/dn0m1f6n0bpc9",
  "venue": "Cell",
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}