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

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 Mentch, Haijun Qiu, Marina Bakay, Christopher Cardinale, Maria Lemma, Debra Abrams, Andrew Bridglall-Jhingoor, Meckenzie Behr, Shanell Harrison, George Otieno, Alexandria Thomas, Fengxiang Wang, Rosetta Chiavacci, Lawrence Wu, Dexter Hadley, Elizabeth Goldmuntz, Josephine Elia, John Maris, Robert Grundmeier, Marcella Devoto, Brendan Keating, Michael March, Renata Pellagrino, Struan F. A. Grant, Patrick M. A. Sleiman, Mingyao Li, Evan E. Eichler and Hakon Hakonarson ()
Additional contact information
Yun Rose Li: The Children’s Hospital of Philadelphia
Joseph T. Glessner: The Children’s Hospital of Philadelphia
Bradley P. Coe: University of Washington School of Medicine
Jin Li: The Children’s Hospital of Philadelphia
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
Josephine Elia: University of Pennsylvania Perelman School of Medicine
John Maris: University of Pennsylvania Perelman School of Medicine
Robert Grundmeier: The Children’s Hospital of Philadelphia
Marcella Devoto: University of Pennsylvania Perelman 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
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
Hakon Hakonarson: The Children’s Hospital of Philadelphia

Nature Communications, 2020, vol. 11, issue 1, 1-9

Abstract: 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

Date: 2020
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DOI: 10.1038/s41467-019-13624-1

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