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Series GSE23557 Query DataSets for GSE23557
Status Public on Aug 05, 2021
Title Genotyping data from 49 patient with unexplained mental retardation
Organism Homo sapiens
Experiment type SNP genotyping by SNP array
Genome variation profiling by SNP array
Summary In the study we present a multicenter study in which three European diagnostic centres assessed the use of Affymetrix Mapping 500k SNP arrays for molecular karyotyping in patients with mental retardation. Each centre tested DNA from 40 patients with unexplained mental retardation together with their parents. In addition, 38 DNA samples containing known submicroscopic copy number variations (CNVs) were run for validation purposes.
Overall design We performed a validation experiment where genomic DNA of 49 patients with mental retardation was hybridized onto Affymetrix' GeneChip 6.0 SNP arrays, and identified genome-wide CNVs.
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Submission date Aug 10, 2010
Last update date Aug 05, 2021
Contact name Masakazu KOHDA
Organization name Saitama Medical University
Street address 1397-1 Yamane
City Hidaka
State/province Saitama
ZIP/Postal code 350-1241
Country Japan
Platforms (1)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (49)
GSM577864 V0038
GSM577865 V0039
GSM577866 V0040
BioProject PRJNA131805

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
GSE23557_RAW.tar 2.0 Gb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table
Processed data provided as supplementary file

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