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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Here we aimed to contribute to the description of the genetic architecture of Congenital heart defect (CHD) in Down syndrome (DS), and report the results of a genome-wide association study using samples from DS individuals with and without CHD. CHD is a common developmental defect of DS occurring in 40% of cases. This case-control GWAS includes 187 DS with CHD as cases, and 151 DS without CHD as controls.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00010000464 Illumina 550K - Illumina Genome Studio 338
EGAD00010000466 NimbleGen 135K aCGH - NimbleScan 108
Publications Citations
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Genome Res 23: 2013 1410-1421
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