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| Status |
Public on Sep 29, 2018 |
| Title |
Affymetrix CytoScan 750K and HD data for developmental delay and/or physical disability phenotypes samples |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
Genome variation profiling by genome tiling array
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| Summary |
Chromosomal copy number variations (CNV) have been associated with various neurological and developmental disorders and chromosomal microarray (CMA) is a method of choice to diagnose Copy Number Gain/Loss syndromes. Recently, next-generation sequencing (NGS)-based low-coverage whole genome sequencing (LC-WGS) has been applied to detect Copy Number Gain/Loss syndromes. This dataset is intended to be used as a “Golden standard data set” for development of LC-WGS analysis method. It consists of patients (n=63) who have a mental delay and/or physical disability phenotype and normal (n=20) phenotype.
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| Overall design |
CNV analysis using Affymetrix 750K and HD array was performed on 63 samples with developmental delay and/or physical disability phenotype. There are also 20 samples who were not diagnostic of any CNV disease and normal phenotype.
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| Contributor(s) |
Cho EH, Lee J |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Sep 28, 2018 |
| Last update date |
Dec 20, 2018 |
| Contact name |
Junnam Lee |
| E-mail(s) |
jnlee@greencross.com
|
| Organization name |
GreenCross genome
|
| Street address |
Green Cross Genome, Green Cross Laboratories-3rd floor . 107 Ihyeon-ro 30 beon-g
|
| City |
Yongin-si |
| ZIP/Postal code |
11111 |
| Country |
South Korea |
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| Platforms (2) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
| GPL18637 |
[CytoScan750K_Array] Affymetrix CytoScan 750K Array |
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| Samples (83)
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| Relations |
| BioProject |
PRJNA493801 |
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