Clinical evaluation of an NGS-based assay for the detection of CNV and SNV acting synergistically to affect phenotype

Speaker and presentation summary

Dr. Elizabeth McCready, PhD, FCCMG

Head of Molecular Cytogenetics, Hamilton Regional Laboratory Medicine Program, Ontario, Canada & Associate Professor, McMaster University, Canada

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.

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.

Recent publications from the speaker

1. Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
2. Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
3. A retrospective cohort study of donor cell leukemia

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.

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