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| 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
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| 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.
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| 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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| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Aug 10, 2010 |
| Last update date |
Aug 05, 2021 |
| Contact name |
Masakazu KOHDA |
| E-mail(s) |
mkoda@saitama-med.ac.jp
|
| Organization name |
Saitama Medical University
|
| Street address |
1397-1 Yamane
|
| City |
Hidaka |
| State/province |
Saitama |
| ZIP/Postal code |
350-1241 |
| Country |
Japan |
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| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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| Samples (49)
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| Relations |
| BioProject |
PRJNA131805 |
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