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| Status |
Public on Jun 12, 2020 |
| Title |
Affymetrix CytoScan 750K data for validation of the BoBs/CNV-seq comparison study |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
|
| Summary |
BACs-on-Beads (BoBs) assay and Copy Number Variation Sequencing (CNV-Seq) are two frequently used methods in today’s prenatal diagnosis. Several researches studies were conducted to investigate the performance of each approach, but they were never compared side by side. This dataset is intended to be used as the 'gold standard dataset' for the validation of BoBs/CNV-seq test reasults on 10 amniotic fluid samples with pathogenic fetal CNVs.
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| |
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| Overall design |
CNV analysis using Affymetrix 750K was performed on 10 samples to validate the results generated by BoBs assay and CNV-seq.
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| |
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| Contributor(s) |
Xu L, Chen C |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Jun 11, 2020 |
| Last update date |
Jun 14, 2020 |
| Contact name |
Hailong Huang |
| Organization name |
Fujian Maternity and Child Health Hospital
|
| Street address |
No.18 Daoshan Road, Gulou District
|
| City |
Fuzhou |
| State/province |
Fujian |
| ZIP/Postal code |
350001 |
| Country |
China |
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| Platforms (1) |
| GPL18637 |
[CytoScan750K_Array] Affymetrix CytoScan 750K Array |
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| Samples (10)
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| Relations |
| BioProject |
PRJNA638907 |
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