|
| Status |
Public on Nov 01, 2017 |
| Title |
Chromosomal microarray analysis for validation of the WGS-based CNV detection results in recurrent miscarriage couples |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by array
|
| Summary |
In order to validate of CNV detection from low-coverage whole-genome sequencing in the blood samples from recurrent miscarriage couples, we employed a customized array Comparative Genomics Hybridization (aCGH, Agilent) approach as chromosomal microarray analysis (CMA) in present study for a cohort of 78 DNA samples from blood. CMA results were compared with low-coverage whole-genome sequencing detection results. 100% consistency was obtained in pathogenic or likely pathogenic CNVs detection.
|
| |
|
| Overall design |
aCGH was perfomed in the samples with low-coverage whole-genome sequencing result and sufficient DNA amount (>500ng). Each clinical subject was referred for chomosomal analysis because of the clinical indication (recurrent miscarriage couples). Each case was detected by aCGH by using a healthy Chinese adult as control.
|
| |
|
| Contributor(s) |
CHOY K, WANG H, DONG Z |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Jul 01, 2016 |
| Last update date |
Nov 02, 2017 |
| Contact name |
Zirui DONG |
| E-mail(s) |
elvisdong@link.cuhk.edu.hk
|
| Organization name |
The Chinese University of Hong Kong
|
| Department |
Dept. of Obstetrics and Gynaecology
|
| Street address |
Shatin, N.T.
|
| City |
Hong Kong |
| ZIP/Postal code |
999077 |
| Country |
China |
| |
|
| Platforms (1) |
| GPL20899 |
Agilent-068656 human array [hg19] |
|
| Samples (78)
|
|
| Relations |
| BioProject |
PRJNA327497 |
Less...
More...