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You may view the case study series below.


Case study series
 

Dr. Linda Hasadsri, PhD
Director, Molecular Technologies Laboratory and Chair of Equity, Inclusion, and Diversity (EID), Department of Laboratory Medicine and Pathology Mayo Clinic
Title: Utility of a custom targeted genotyping array for carrier screening research

Dr. Katie Rudd, PhD, FACMG
Medical Director, Cytogenetics and Genomic Microarray Lab, ARUP Laboratories
Title: Mendelian inheritance error: familial relationships and sample swaps

Dr. Elizabeth McCready, PhD
Associate Professor in the Department of Pathology and Molecular Medicine at McMaster University and Head of Molecular Cytogenetics, Hamilton Regional Laboratory Medicine Program (HRLMP) Genetics Laboratories
Title: SNP Chromosomal Microarray, the allelic difference

Dr. Stuart Schwartz PhD, FACMG
Strategic Director, Cytogenetics, Women’s Health and Genetics, Labcorp
Title: Challenging microarray cases—approaches for analysis of unusual findings

Dr. Benjamin Hilton, PhD
Assistant Director of the Cytogenomics Laboratory, Greenwood Genetics Center
Title: Determining the genetic cause of disease by application of exon- level array as a complement to exome sequencing

Dr. Kristen Deak , PhD
Associate Director of Cytogenetics and Molecular Laboratories, Division of Molecular Pathology, Genetics and Genomics, Duke University
Title: Case #3 - Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Kristen Deak , PhD
Associate Director of Cytogenetics and Molecular Laboratories, Division of Molecular Pathology, Genetics and Genomics, Duke University
Title: Case #2 - Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Catherine Rehder, PhD
Associate Professor of Pathology and Director, Division of Molecular Pathology, Genetics and Genomics, Duke University
Title: Case #1 - Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Stuart Schwartz, PhD, FACMG
Strategic Director, Cytogenetics, Women’s Health and Genetics, Labcorp
Title: Using hybrid SNP microarrays to delineate Uniparental Disomy (UOD)

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