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Chromosomal microarray analysis for validation of the NGS-based CNV detection results in clinical samples

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE73190 | GEO | 2015/10/01

SECONDARY ACCESSION(S): PRJNA296351

REPOSITORIES: GEO

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Homo sapiens

Project description:Chromosomal microarray analysis for validation of the NGS-based CNV detection results in clinical samples

| PRJNA296351 | ENA