P510: Validation of parent of origin detection for de novo events identified on SNP microarray in a postnatal population

Identification of parent of origin for copy number variants (CNVs) or regions of absence of heterozygosity (AOH) is critical to understanding the clinical impact of certain genetic alterations particularly for disorders of neurodevelopment characterized by variable expressivity. Several publications have suggested a paternal origin bias for de novo CNVs, which can help guide mechanistic understanding as well as classification specifically if imprinted gene(s) are present. The Bionano NxClinicalTM software can determine the parent of origin for de novo CNV and AOH events from SNP-based arrays.