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| Status |
Public on Oct 01, 2015 |
| Title |
aCGH for CNV detection in clinical samples |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by array
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| 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 snp-array, we used a customized array Comparative Genomics Hybridization (aCGH, Agilent) approach for a cohort of clinical samples 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.
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| Overall design |
aCGH was perfomed 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. Each case was detected by aCGH by using a healthy Chinese adult as control.
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| Contributor(s) |
CHOY KW, WONG HG, DONG Z |
| Citation(s) |
26820068 |
| |
| Submission date |
Sep 10, 2015 |
| Last update date |
Feb 01, 2016 |
| Contact name |
Zirui DONG |
| E-mail(s) |
elvisdong@link.cuhk.edu.hk
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| Organization name |
The Chinese University of Hong Kong
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| Department |
Dept. of Obstetrics and Gynaecology
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| Street address |
Shatin, N.T.
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| City |
Hong Kong |
| ZIP/Postal code |
999077 |
| Country |
China |
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| Platforms (3) |
| GPL20897 |
Agilent-022023 Homo sapiens Prenatal Chip V2 [hg19] |
| GPL20898 |
Agilent-035130 Human Fetal Chip V 2.0 [hg19] |
| GPL20899 |
Agilent-068656 human array [hg19] |
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| Samples (19)
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| 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 |
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| Relations |
| BioProject |
PRJNA296350 |
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