During the presentation Dr. McCready will examine the utility of a NGS panel, CytoSure® Constitutional NGS, to identify relevant variants in families with reduced penetrance or uncertain copy number variants (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 single nucleotide variants (SNVs) acting synergistically with CNVs to affect phenotype.
Dr. Elizabeth McCready, PhD, FCCMG
Dr. McCready’s research activities are largely translational in nature, with particular interest in application of molecular cytogenetic techniques to characterise clinically relevant genetic variants that contribute to developmental disorders and cancer.
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.
SureSeq™: For Research Use Only; Not for Use in Diagnostic Procedures.