aCGH for CNV detection 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 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. 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.