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

doi:10.1038/s41467-019-13624-1

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Article

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

Nature communications - 14 Jan 2020

Li Yun Rose, Glessner Joseph T, Coe Bradley P, Li Jin, Mohebnasab Maede, Chang Xiao, Connolly John, Kao Charlly, Wei Zhi, Bradfield Jonathan, Kim Cecilia, Hou Cuiping, Khan Munir, Mentch Frank, Qiu Haijun, Bakay Marina, Cardinale Christopher, Lemma Maria, Abrams Debra, Bridglall-Jhingoor Andrew, Behr Meckenzie, Harrison Shanell, Otieno George, Thomas Alexandria, Wang Fengxiang, Chiavacci Rosetta, Wu Lawrence, Hadley Dexter, Goldmuntz Elizabeth, Elia Josephine, Maris John, Grundmeier Robert, Devoto Marcella, Keating Brendan, March Michael, Pellagrino Renata, Grant Struan F A, Sleiman Patrick M A, Li Mingyao, Eichler Evan E, Hakonarson Hakon

Abstract excerpt

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...

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Identifiers

PMID: 31937769
DOI: 10.1038/s41467-019-13624-1
PMCID: PMC6959272

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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