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Series GSE67930 Query DataSets for GSE67930
Status Public on Apr 16, 2015
Title Affymetrix SNP Array data for familial coarctation of the aorta (CoA) II
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 13 individuals from 3 families with familial 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
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 (13)
GSM1658668 CoA patient 3692
GSM1658669 CoA patient 3695
GSM1658670 CoA patient 3628
BioProject PRJNA281233

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE67930_RAW.tar 344.2 Mb (http)(custom) TAR (of CEL)
GSE67930_probeset_summary.txt.gz 118.2 Mb (ftp)(http) TXT
Processed data are available on Series record

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