Chromosomal microarray analysis for validation of the WGS-based CNV detection results in recurrent miscarriage couples. Homo sapiens

In order to validate of CNV detection from low-coverage whole-genome sequencing in the blood samples from recurrent miscarriage couples, we employed a customized array Comparative Genomics Hybridization (aCGH, Agilent) approach as chromosomal microarray analysis (CMA) in present study for a cohort of 78 DNA samples from blood. CMA results were compared with low-coverage whole-genome sequencing detection results. 100% consistency was obtained in pathogenic or likely pathogenic CNVs detection. Overall design: aCGH was perfomed in the samples with low-coverage whole-genome sequencing result and sufficient DNA amount (>500ng). Each clinical subject was referred for chomosomal analysis because of the clinical indication (recurrent miscarriage couples). Each case was detected by aCGH by using a healthy Chinese adult as control.