|
| Status |
Public on Apr 16, 2015 |
| Title |
Affymetrix SNP Array data for familial coarctation of the aorta (CoA) I |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
|
| Summary |
Coarctation of the aorta (CoA) accounts for 5-8% of all congenital heart defects. CoA can be detected in up to 20% of patients with Ullrich-Turner syndrome (UTS), in which a part or all of one of the X chromosomes is absent. The etiology of non-syndromic CoA is poorly understood. In the present work, we test the hypothesis that rare copy number variation (CNV) especially on the gonosomes, contribute to the etiology of non-syndromic CoA.
|
| |
|
| Overall design |
We performed high-resolution genome-wide CNV analysis using the Affymetrix SNP 6.0 microarray platform for 70 individuals with sporadic CoA.
|
| |
|
| Contributor(s) |
Uebe S, Moosmann J, Ekici AB, Toka O |
| Citation(s) |
25984793 |
| |
| Submission date |
Apr 15, 2015 |
| Last update date |
Nov 27, 2018 |
| Contact name |
Steffen Uebe |
| E-mail(s) |
steffen.uebe@uk-erlangen.de
|
| Phone |
+49-9131-85-26101
|
| Organization name |
Universitaetsklinikum Erlangen
|
| Department |
Humangenetisches Institut
|
| Street address |
Schwabachanlage 10
|
| City |
Erlangen |
| ZIP/Postal code |
91054 |
| Country |
Germany |
| |
|
| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
|
| Samples (70)
|
|
| Relations |
| BioProject |
PRJNA281234 |
Less...
More...