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

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. 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.