Evaluation of an NGS assay for the detection of CNV & SNV acting synergistically to affect phenotype

Dr. McCready will examine the utility of a CytoSure® Constitutional NGS panel to identify relevant variants in families with reduced penetrance or uncertain CNVs. Findings from this pilot cohort were compared to data from chromosome microarray analysis to evaluate feasibility of the NGS platform for copy number detection and its utility in identifying SNVs acting synergistically with CNVs to affect phenotype.
Disclaimer: This presentation is intended for educational purposes only and does not replace independent professional judgment. Statements of fact and opinions expressed are those of the presenters individually and, unless expressly stated to the contrary, are not the opinion or position of the Oxford Gene Technology Group (OGT). OGT does not endorse or approve, and assumes no responsibility for, the content, accuracy or completeness of the information presented.