{
  "abstract": "Structural variants (SVs) are a major type of genetic variation, yet their role in human traits remains largely uncharacterized, primarily due to challenges in genotyping them on a genome-wide scale in large cohorts. Here we identified 171,233 high-quality, genome-wide SVs from 482 haplotype-resolved genome assemblies derived from PacBio HiFi long-read sequencing of 241 individuals. We developed a reference panel and a web application (ImputeSV) to impute these SVs from single-nucleotide polymorphism (SNP) data and demonstrated high imputation accuracy at both the individual and cohort levels. Using this tool, we imputed 54,578 common SVs (minor allele frequencies (MAFs) ≥1%) in 456,643 UK Biobank (UKB) participants of European ancestry. Through analysis of UKB data and simulations, we estimated that SVs contributed to at least 4.7% of the common genetic variation for complex traits. Genome-wide association analyses of SVs for 2,624 UKB traits identified 17,335 SV-trait associations, including 958 unlikely to be driven by small genetic variants. Our study demonstrates the power of using long-read assemblies for imputing SVs from SNPs, unveils the role of SVs in complex trait variation and provides a catalog of SV associations in the UKB.",
  "abstract_shown": true,
  "affiliations": [
    "New Cornerstone Science Laboratory, School of Life Sciences, Westlake University, Hangzhou, China",
    "Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, China",
    "High-Performance Computing Center, Westlake University, Hangzhou, China",
    "New Cornerstone Science Laboratory, School of Life Sciences, Westlake University, Hangzhou, China. jian.yang@westlake.edu.cn",
    "Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, China. jian.yang@westlake.edu.cn",
    "School of Life Sciences, Westlake University, Hangzhou, China",
    "Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Wei-Yang Bai",
      "orcid": "0000-0002-1668-9987"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Shuli Liu"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Zhongqu Duan",
      "orcid": "0000-0001-7281-5346"
    },
    {
      "affs": [
        2,
        3,
        4
      ],
      "name": "Ji-Jian Yang"
    },
    {
      "affs": [
        5,
        1
      ],
      "name": "Jie Chen",
      "orcid": "0000-0002-4674-8351"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Junren Hou",
      "orcid": "0009-0009-7016-707X"
    },
    {
      "affs": [
        5,
        1
      ],
      "name": "Lianfeng Wu",
      "orcid": "0000-0003-0237-2548"
    },
    {
      "affs": [
        2
      ],
      "name": "Nan Li",
      "orcid": "0000-0001-7826-4688"
    },
    {
      "affs": [
        0,
        6,
        1
      ],
      "name": "Ting Qi",
      "orcid": "0000-0001-5868-0799"
    },
    {
      "affs": [
        2,
        3,
        4
      ],
      "name": "Jian Yang",
      "orcid": "0000-0003-2001-2474"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/2rb33w7czqbge.bib",
  "cited_by": 12,
  "doi": "10.1038/s41588-026-02612-z",
  "fulltext_url": null,
  "id": "2rb33w7czqbge",
  "issns": [
    "1061-4036",
    "1546-1718"
  ],
  "landing_url": "https://doi.org/10.1038/s41588-026-02612-z",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1311|Genetic Associations and Epidemiology"
    ]
  ],
  "openalex": "W7161701812",
  "pdf_url": null,
  "pmcid": "PMC13263140",
  "pmid": "42156564",
  "published": "2026-05-19",
  "publisher": "Nature Portfolio",
  "ris": "https://research.draconitic.com/paper/2rb33w7czqbge.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:26:46Z",
      "native_id": "W7161701812",
      "source": "openalex",
      "url": "https://doi.org/10.1038/s41588-026-02612-z"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genetic Associations and Epidemiology",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Genome-wide associations of structural variants with human traits through imputation from long-read assemblies",
  "title_text": "Genome-wide associations of structural variants with human traits through imputation from long-read assemblies",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T13:20:43Z",
  "url": "https://research.draconitic.com/paper/2rb33w7czqbge",
  "venue": "Nature Genetics",
  "versions": []
}