|
| Status |
Public on Oct 01, 2015 |
| Title |
Chromosomal microarray analysis for validation of the NGS-based CNV detection results in clinical samples |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
|
| Summary |
In order to evaluate the performance of CNV detection in next-generation sequencing platform in varied sample types, we employed chromosomal microarray analysis (CMA) for validation of the samples with NGS-based detection results (NCBI Sequence Read Archive with accession number SRA296708). Besides array Comparative Genomics Hybridization (aCGH, Agilent) , we used a commerical SNP-array (Illumina) including early abortus, induced termination, prenatal samples and postnatal samples. CMA results were compared with NGS-based detection results. 100% consistency was obtained between NGS-based approach and CMA in pathogenic or likely pathogenic CNVs detection.
|
| |
|
| Overall design |
SNP-array was perfomed, according to the manufacturer's protocol, in the samples with NGS-based detection result and sufficient DNA amount (>500ng). Each clinical subject was referred for chomosomal analysis because of the clinical indication.
|
| |
|
| Contributor(s) |
HU P, ZHANG J, DONG Z |
| Citation(s) |
26820068 |
| |
| Submission date |
Sep 18, 2015 |
| Last update date |
Feb 01, 2016 |
| 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) |
| GPL8855 |
Illumina HumanCytoSnp-12 Beadchip version 2.0 |
|
| Samples (53)
|
|
| This SubSeries is part of SuperSeries: |
| GSE73191 |
Chromosomal microarray data for validation of copy-number variants detection from a low-coverage whole-genome sequencing approach in clinical samples |
|
| Relations |
| BioProject |
PRJNA296351 |
Less...
More...