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

doi:10.1016/j.ajhg.2012.08.003

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Article

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

American journal of human genetics - 7 Sept 2012

Soemedi Rachel, Wilson Ian J, Bentham Jamie, Darlay Rebecca, Töpf Ana, Zelenika Diana, Cosgrove Catherine, Setchfield Kerry, Thornborough Chris, Granados-Riveron Javier, Blue Gillian M, Breckpot Jeroen, Hellens Stephen, Zwolinkski Simon, Glen Elise, Mamasoula Chrysovalanto, Rahman Thahira J, Hall Darroch, Rauch Anita, Devriendt Koenraad, Gewillig Marc, O' Sullivan John, Winlaw David S, Bu'Lock Frances, Brook J David, Bhattacharya Shoumo, Lathrop Mark, Santibanez-Koref Mauro, Cordell Heather J, Goodship Judith A, Keavney Bernard D

Abstract excerpt

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...

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Identifiers

PMID: 22939634
DOI: 10.1016/j.ajhg.2012.08.003
PMCID: PMC3511986

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GJA5
HAND2

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