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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Author

Listed:
  • Yun Rose Li

    (The Children’s Hospital of Philadelphia
    University of Pennsylvania Perelman School of Medicine
    University of California San Francisco)

  • Joseph T. Glessner

    (The Children’s Hospital of Philadelphia
    University of Pennsylvania Perelman School of Medicine)

  • Bradley P. Coe

    (University of Washington School of Medicine)

  • Jin Li

    (The Children’s Hospital of Philadelphia
    Affiliated Cancer Hospital and Institute of Guangzhou Medical University)

  • Maede Mohebnasab

    (The Children’s Hospital of Philadelphia)

  • Xiao Chang

    (The Children’s Hospital of Philadelphia)

  • John Connolly

    (The Children’s Hospital of Philadelphia)

  • Charlly Kao

    (The Children’s Hospital of Philadelphia)

  • Zhi Wei

    (New Jersey Institute of Technology)

  • Jonathan Bradfield

    (The Children’s Hospital of Philadelphia)

  • Cecilia Kim

    (The Children’s Hospital of Philadelphia)

  • Cuiping Hou

    (The Children’s Hospital of Philadelphia)

  • Munir Khan

    (The Children’s Hospital of Philadelphia)

  • Frank Mentch

    (The Children’s Hospital of Philadelphia)

  • Haijun Qiu

    (The Children’s Hospital of Philadelphia)

  • Marina Bakay

    (The Children’s Hospital of Philadelphia)

  • Christopher Cardinale

    (The Children’s Hospital of Philadelphia)

  • Maria Lemma

    (The Children’s Hospital of Philadelphia)

  • Debra Abrams

    (The Children’s Hospital of Philadelphia)

  • Andrew Bridglall-Jhingoor

    (The Children’s Hospital of Philadelphia)

  • Meckenzie Behr

    (The Children’s Hospital of Philadelphia)

  • Shanell Harrison

    (The Children’s Hospital of Philadelphia)

  • George Otieno

    (The Children’s Hospital of Philadelphia)

  • Alexandria Thomas

    (The Children’s Hospital of Philadelphia)

  • Fengxiang Wang

    (The Children’s Hospital of Philadelphia)

  • Rosetta Chiavacci

    (The Children’s Hospital of Philadelphia)

  • Lawrence Wu

    (The Children’s Hospital of Philadelphia)

  • Dexter Hadley

    (University of California San Francisco)

  • Elizabeth Goldmuntz

    (University of Pennsylvania Perelman School of Medicine
    The Children’s Hospital of Philadelphia)

  • Josephine Elia

    (University of Pennsylvania Perelman School of Medicine
    University of Pennsylvania School of Medicine
    The Children’s Hospital of Philadelphia)

  • John Maris

    (University of Pennsylvania Perelman School of Medicine
    The Children’s Hospital of Philadelphia)

  • Robert Grundmeier

    (The Children’s Hospital of Philadelphia)

  • Marcella Devoto

    (University of Pennsylvania Perelman School of Medicine
    The Children’s Hospital of Philadelphia
    University La Sapienza
    University of Pennsylvania School of Medicine)

  • Brendan Keating

    (The Children’s Hospital of Philadelphia)

  • Michael March

    (The Children’s Hospital of Philadelphia)

  • Renata Pellagrino

    (The Children’s Hospital of Philadelphia)

  • Struan F. A. Grant

    (The Children’s Hospital of Philadelphia
    University of Pennsylvania Perelman School of Medicine)

  • Patrick M. A. Sleiman

    (The Children’s Hospital of Philadelphia)

  • Mingyao Li

    (University of Pennsylvania School of Medicine)

  • Evan E. Eichler

    (University of Washington School of Medicine
    University of Washington School of Medicine)

  • Hakon Hakonarson

    (The Children’s Hospital of Philadelphia
    University of Pennsylvania Perelman School of Medicine)

Abstract

Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases, we examine the CNV genomic landscape of 100,028 unrelated individuals of European ancestry, using SNP and CGH array datasets. We observe an average CNV burden of ~650 kb, identifying a total of 11,314 deletion, 5625 duplication, and 2746 homozygous deletion CNV regions (CNVRs). In all, 13.7% are unreported, 58.6% overlap with at least one gene, and 32.8% interrupt coding exons. These CNVRs are significantly more likely to overlap OMIM genes (2.94-fold), GWAS loci (1.52-fold), and non-coding RNAs (1.44-fold), compared with random distribution (P

Suggested Citation

  • Yun Rose Li & Joseph T. Glessner & Bradley P. Coe & Jin Li & Maede Mohebnasab & Xiao Chang & John Connolly & Charlly Kao & Zhi Wei & Jonathan Bradfield & Cecilia Kim & Cuiping Hou & Munir Khan & Frank, 2020. "Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations," Nature Communications, Nature, vol. 11(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-019-13624-1
    DOI: 10.1038/s41467-019-13624-1
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