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

• Published in: Nature communications Vol. 11; no. 1; pp. 255 - 9
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 14.01.2020; Nature Publishing Group; Nature Portfolio
• Subjects: 45/43; 45/61; 631/208/205/2138; 631/208/726/649/2157; 631/208/727/2000; 692/699; Arrays; Bias; Binding sites; Child & adolescent psychiatry; Comparative Genomic Hybridization; Copy number; Databases, Genetic; Disease; DNA Copy Number Variations; European Continental Ancestry Group - genetics; Exons; Gene deletion; Genes; Genetic Loci; Genetic Predisposition to Disease - ethnology; Genetic Predisposition to Disease - genetics; Genome, Human - genetics; Genome-Wide Association Study; Genomes; Genomics; Hospitals; Humanities and Social Sciences; Humans; Hybridization; Medicine; Mental disorders; Metabolism; Molecular Sequence Annotation; multidisciplinary; Non-coding RNA; Phenotypes; Polymorphism, Single Nucleotide; Quality control; Science; Science (multidisciplinary); Single-nucleotide polymorphism

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...