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Summary

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.

 

Speaker bio

Elizabeth McCready, PhD, FCCMG

Elizabeth McCreadyHead of Molecular Cytogenetics, Hamilton Regional Laboratory Medicine Program, Associate Professor, McMaster University

Dr McCready completed her MSc degree through the University of Toronto and PhD through the University Ottawa, before completing clinical laboratory fellowships in molecular genetics and in cytogenetics, also in Ottawa.

Dr McCready is now an Associate Professor in the department of pathology and molecular medicine at McMaster University, and Head of Molecular Cytogenetics within the Hamilton Regional Laboratory Medicine Program, Genetics Laboratories, Hamilton, Ontario.

Dr McCready is a Program Director of the Canadian College of Medical Geneticists Fellowship Training Program at McMaster and currently sits as a member of the CCMG board of directors.

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.

 

CytoSure: For Research Use Only; Not for Use in Diagnostic Procedures. 

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