{
  "abstract": "Moyamoya disease (MMD) lacks reliable biomarkers for distinguishing it from atherosclerotic cerebrovascular disease (ACVD) and predicting postoperative collateral formation (PCF). Here, we apply low-input, bisulfite-free TET-assisted pyridine borane sequencing to plasma cell-free DNA (cfDNA) from 39 MMD and 37 ACVD patients in the discovery cohort and 40 MMD and 16 ACVD patients in an external multicenter cohort. The same libraries enable the analysis of methylation, fragmentation, end-nucleotide composition, nucleosome positioning, and tissue-of-origin signals. Although global methylation and tissue-of-origin profiles are broadly similar, differentially methylated regions distinguish MMD from ACVD and associate with PCF. A cfDNA methylation model achieves areas under the curve (AUCs) of 0.923 and 0.822 in the discovery and external cohorts, respectively, while a separate model predicts PCF with AUCs of 0.907 and 0.854. These findings provide proof-of-concept evidence for cfDNA methylation profiling as a minimally invasive approach to MMD diagnosis and preoperative assessment, while establishing an epigenomic resource for future studies.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Neurosurgery, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China",
    "Brain Research Center, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China",
    "State Key Laboratory of Metabolism and Regulation in Complex Organisms, College of Chemistry and Molecular Sciences, Taikang Center for Life and Medical Sciences, Wuhan University, Wuhan, Hubei 430071, China",
    "Department of Neurosurgery, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu 210008, China",
    "Neurosurgical Institute, Nanjing University, Nanjing, Jiangsu 210008, China",
    "Department of Neurosurgery, Guangdong Sanjiu Brain Hospital, Guangzhou, Guangdong 510510, China",
    "Department of Neurosurgery, Hainan Second People’s Hospital, Wuzhishan City, Hainan 572200, China",
    "Medical Research Institute, Wuhan University, Wuhan, Hubei 430071, China",
    "Sino-Italian Ascula Brain Science Joint Laboratory, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 17,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Tongyu Chen"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Zetian Jia"
    },
    {
      "affs": [
        2
      ],
      "name": "Ying Tang"
    },
    {
      "affs": [
        0
      ],
      "name": "Jianjian Zhang"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Yi Zhang"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Xiaojian Li"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Jiazhi Jiang"
    },
    {
      "affs": [
        0
      ],
      "name": "Jin Yu"
    },
    {
      "affs": [
        0
      ],
      "name": "Tingbao Zhang"
    },
    {
      "affs": [
        5
      ],
      "name": "Dongliang Guo"
    },
    {
      "affs": [
        5
      ],
      "name": "Da Liu"
    },
    {
      "affs": [
        6
      ],
      "name": "Hao Peng"
    },
    {
      "affs": [
        0
      ],
      "name": "Jincao Chen"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Wei Wei"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Wei Li"
    },
    {
      "affs": [
        2
      ],
      "name": "Yibin Liu"
    },
    {
      "affs": [
        0,
        1,
        7,
        8
      ],
      "name": "Xiang Li"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9vp3pyaks76az.bib",
  "cited_by": 0,
  "doi": "10.1016/j.xcrm.2026.103075",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13710557/",
  "id": "9vp3pyaks76az",
  "issns": [
    "2666-3791"
  ],
  "landing_url": "https://doi.org/10.1016/j.xcrm.2026.103075",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Article"
    ],
    [
      "openalex",
      "2745|Moyamoya disease diagnosis and treatment"
    ]
  ],
  "openalex": "W7214162962",
  "pdf_url": null,
  "pmcid": "PMC13710557",
  "pmid": "42785304",
  "published": "2026-09-24",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/9vp3pyaks76az.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T12:21:30Z",
      "native_id": "PMC13710557",
      "source": "pmc",
      "url": "https://doi.org/10.1016/j.xcrm.2026.103075"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2745|Moyamoya disease diagnosis and treatment",
      "subfield": "general"
    }
  ],
  "title": "Genome-wide cell-free DNA methylation profiling via TAPS for moyamoya disease diagnosis and postoperative collateral formation prediction",
  "title_text": "Genome-wide cell-free DNA methylation profiling via TAPS for moyamoya disease diagnosis and postoperative collateral formation prediction",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T12:21:30Z",
  "url": "https://research.draconitic.com/paper/9vp3pyaks76az",
  "venue": "Cell Reports Medicine",
  "versions": []
}