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

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE83941 | GEO | 2017/11/01

SECONDARY ACCESSION(S): PRJNA327497

REPOSITORIES: GEO