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

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?

SUBMITTER: Li YR 

PROVIDER: S-EPMC6959272 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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

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

Nature communications 20200114 1

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  ...[more]

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