{
  "abstract": "Somatic mosaicism contributes to genomic variation, yet postzygotic structural variants remain under-characterized. We performed long- and short-read WGS from multiple individuals (n=47 normal tissues; n=168 samples) and identified mosaic structural variants in all individuals and germ layers, impacting a median 285.2 kb/genome. Nearly half of breakpoints were independently validated, with tissue distributions reflecting both early and late developmental origins. Most mosaic variants were repeat-mediated and 8.3% overlapped functional elements, an enrichment compared to germline variants. To extend these analyses in samples where long-read sequencing is infeasible, we measured repeat alterations from short-read sequencing, recapitulating mosaic tissue-specific differences. We characterized tumor- and tissue- specific variation in repeats across 15 cancer types and found tumor-related repeat variation to be similar in scale to that of normal mosaic variation. Tracking repeat changes in cell-free DNA provided a noninvasive approach for tumor monitoring. Our analyses revealed widespread repeat-driven structural variation in health and disease.",
  "abstract_shown": true,
  "affiliations": [
    "Johns Hopkins University"
  ],
  "article_type": "New results",
  "arxiv": null,
  "author_total": 25,
  "authors": [
    {
      "name": "A. V. Annapragada"
    },
    {
      "name": "J. White"
    },
    {
      "name": "H. Orjuela"
    },
    {
      "name": "A. Bartolomucci"
    },
    {
      "name": "A. Eastman"
    },
    {
      "name": "S. Koul"
    },
    {
      "name": "K. Lebarbenchon"
    },
    {
      "name": "D. Bruhm"
    },
    {
      "name": "S. Short"
    },
    {
      "name": "K. Boyapati"
    },
    {
      "name": "N. Niknafs"
    },
    {
      "name": "C. Norton"
    },
    {
      "name": "V. Girish"
    },
    {
      "name": "N. Vulpescu"
    },
    {
      "affs": [
        0
      ],
      "name": "S. Velculescu"
    },
    {
      "affs": [
        0
      ],
      "name": "J. Velculescu"
    },
    {
      "name": "V. Adleff"
    },
    {
      "name": "A. Nelson"
    },
    {
      "name": "Z. Foda"
    },
    {
      "name": "B. Winterhoff"
    },
    {
      "name": "R. Drapkin"
    },
    {
      "name": "M. Schatz"
    },
    {
      "name": "J. Phallen"
    },
    {
      "name": "R. Scharpf"
    },
    {
      "affs": [
        0
      ],
      "name": "V. Velculescu"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/929egzb9a2cmd.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.09.22.753313",
  "fulltext_url": "https://www.biorxiv.org/content/10.64898/2026.09.22.753313v1.full",
  "id": "929egzb9a2cmd",
  "issns": [],
  "landing_url": "https://www.biorxiv.org/content/10.64898/2026.09.22.753313v1",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "biorxiv",
      "genomics"
    ],
    [
      "openalex",
      "1311|Genomic variations and chromosomal abnormalities"
    ]
  ],
  "openalex": "W7214600859",
  "pdf_url": "https://www.biorxiv.org/content/10.64898/2026.09.22.753313v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-09-22",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/929egzb9a2cmd.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:24:58Z",
      "native_id": "10.64898/2026.09.22.753313",
      "source": "biorxiv",
      "url": "https://www.biorxiv.org/content/10.64898/2026.09.22.753313v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "biorxiv:genomics",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Structural variation in repeat elements is widespread in normal human tissues and in tumorigenesis",
  "title_text": "Structural variation in repeat elements is widespread in normal human tissues and in tumorigenesis",
  "type": "preprint",
  "updated_at": "2026-10-30T12:24:58Z",
  "url": "https://research.draconitic.com/paper/929egzb9a2cmd",
  "venue": "bioRxiv",
  "versions": []
}