Study
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00000000129 | Genotype |
Study Description
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.
Study Datasets 2 datasets.
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 |
Down syndrome SNP genotyping data
|
Illumina 550K - Illumina Genome Studio | 338 |
| EGAD00010000466 |
Down syndrome CNV genotyping data
|
NimbleGen 135K aCGH - NimbleScan | 108 |
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