{
  "abstract": "Diploid human cells contain two non-identical genomes, and differences in their regulation underlie human development and disease. We present Fiber-seq inferred regulatory elements (FIRE) and show that FIRE provides a more comprehensive and quantitative snapshot of the accessible chromatin landscape across the 6 Gbp diploid human genome, overcoming previously unrecognized biases in existing regulatory element catalogs. FIRE enables comprehensive detection of haplotype-selective chromatin accessibility (HSCA), exposing imprinted elements lacking underlying parent-of-origin differences in DNA methylation and gene regulatory modules that permit genes to escape X chromosome inactivation. We uncover that the human leukocyte antigen (HLA) locus harbors the most HSCA in immune cells, where we resolve specific transcription factor (TF) binding events disrupted by disease-associated variants. Finally, we demonstrate that the regulatory landscape of a cell is littered with autosomal somatic chromatin epimutations that are propagated by clonal expansions to create mitotically stable and non-genetically deterministic chromatin alterations.",
  "abstract_shown": true,
  "affiliations": [
    "Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA. Electronic address: mrvollger@genetics.utah.edu",
    "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA",
    "Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA",
    "Department of Genetics, Stanford University, Palo Alto, CA, USA",
    "Center for Systems Immunology, Benaroya Research Institute at Virginia Mason Franciscan Health, Seattle, WA, USA",
    "Talus Bioscience, Seattle, WA, USA",
    "Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA",
    "Department of Laboratory Medicine and Pathology, Mayo Clinic Hospital, Rochester, MN, USA",
    "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA",
    "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Paul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, WA, USA",
    "Departments of Statistics & Biostatistics, University of Washington, Seattle, WA, USA",
    "Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA, USA",
    "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Center for Systems Immunology, Benaroya Research Institute at Virginia Mason Franciscan Health, Seattle, WA, USA; Department of Immunology, University of Washington School of Medicine, Seattle, WA, USA",
    "Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: absterga@uw.edu"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 28,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Mitchell Robert Vollger",
      "orcid": "0000-0002-8651-1615"
    },
    {
      "affs": [
        1
      ],
      "name": "Elliott G. Swanson",
      "orcid": "0000-0002-0351-6446"
    },
    {
      "affs": [
        2
      ],
      "name": "Shane J. Neph",
      "orcid": "0000-0003-2962-8777"
    },
    {
      "affs": [
        1
      ],
      "name": "Benjamin J. Mallory",
      "orcid": "0000-0003-1572-6181"
    },
    {
      "affs": [
        3
      ],
      "name": "Danilo Dubocanin",
      "orcid": "0000-0003-0330-5814"
    },
    {
      "affs": [
        4
      ],
      "name": "Ching‐Huang Ho",
      "orcid": "0000-0001-8359-8068"
    },
    {
      "affs": [
        1
      ],
      "name": "Yong-Han Hank Cheng"
    },
    {
      "affs": [
        2
      ],
      "name": "Jane Ranchalis"
    },
    {
      "affs": [
        1
      ],
      "name": "Katherine M. Munson",
      "orcid": "0000-0001-8413-6498"
    },
    {
      "affs": [
        2
      ],
      "name": "Adriana Estela Sedeño-Cortés",
      "orcid": "0000-0001-7959-8970"
    },
    {
      "affs": [
        2
      ],
      "name": "Devaraja Gouda Mudeppa"
    },
    {
      "affs": [
        5
      ],
      "name": "William E. Fondrie",
      "orcid": "0000-0002-1554-3716"
    },
    {
      "affs": [
        2
      ],
      "name": "Stephanie C. Bohaczuk",
      "orcid": "0000-0001-8802-6579"
    },
    {
      "affs": [
        4
      ],
      "name": "Maxwell A. Dippel"
    },
    {
      "affs": [
        2
      ],
      "name": "Yizi Mao",
      "orcid": "0000-0001-5743-6831"
    },
    {
      "affs": [
        6
      ],
      "name": "Nancy L. Parmalee",
      "orcid": "0009-0003-4262-820X"
    },
    {
      "affs": [
        1
      ],
      "name": "William T. Harvey",
      "orcid": "0000-0001-9529-1127"
    },
    {
      "affs": [
        1
      ],
      "name": "Young-Jun Kwon",
      "orcid": "0000-0002-5024-2134"
    },
    {
      "affs": [
        1
      ],
      "name": "Gage H. Garcia",
      "orcid": "0009-0005-2383-722X"
    },
    {
      "affs": [
        1
      ],
      "name": "Kendra Hoekzema",
      "orcid": "0000-0002-8058-0177"
    },
    {
      "affs": [
        7
      ],
      "name": "Jeffrey G. Meyer"
    },
    {
      "affs": [
        7
      ],
      "name": "Mine S. Cicek"
    },
    {
      "affs": [
        8
      ],
      "name": "Evan E. Eichler",
      "orcid": "0000-0002-8246-4014"
    },
    {
      "affs": [
        9
      ],
      "name": "William Stafford Noble",
      "orcid": "0000-0001-7283-4715"
    },
    {
      "affs": [
        10
      ],
      "name": "Daniela Witten",
      "orcid": "0000-0002-1764-1184"
    },
    {
      "affs": [
        11
      ],
      "name": "James T. Bennett",
      "orcid": "0000-0003-2843-5594"
    },
    {
      "affs": [
        12
      ],
      "name": "John P. Ray"
    },
    {
      "affs": [
        13
      ],
      "name": "Andrew B. Stergachis",
      "orcid": "0000-0002-1299-3674"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/db7y564czat8b.bib",
  "cited_by": 38,
  "doi": "10.1016/j.cell.2026.09.034",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13723045/",
  "id": "db7y564czat8b",
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  "language": "en",
  "licence": "CC-BY",
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  "pmcid": "PMC13723045",
  "pmid": "42880232",
  "published": "2026-10-01",
  "publisher": "Cell Press",
  "ris": "https://research.draconitic.com/paper/db7y564czat8b.ris",
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      "field": "biochemistry",
      "origin": "openalex:1312|Genomics and Chromatin Dynamics",
      "subfield": "molecular-biology"
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  "title": "Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome",
  "title_text": "Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T13:20:41Z",
  "url": "https://research.draconitic.com/paper/db7y564czat8b",
  "venue": "Cell",
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}