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Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

Abstract:

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart disease (CHD) remains incompletely defined. We generated genome-wide CNV data by using Illumina 660W-Quad SNP arrays in 2,256 individuals with CHD, 283 trio CHD-affected families, and 1,538 controls. We found association of rare genic deletions with CHD risk (odds ratio [OR] = 1.8, p = 0...

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Publisher copy:
10.1016/j.ajhg.2012.08.003

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Journal:
American Journal of Human Genetics
Volume:
91
Issue:
3
Pages:
489-501
Publication date:
2012-09-07
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:3b66cf7b-6129-4384-be54-8f652d2fb754
Source identifiers:
352769
Local pid:
pubs:352769
Language:
English

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