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Tuesday, February 28 • 11:00 - 11:15
Result Interpretation - Clinical Genomic Case Study
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This talk will highlight elements of interpretation and reporting of genomic results and discuss the importance of phenotypic information in interpreting WES.

Three key elements of this topic will be discussed: 

  1. Integration of phenotype and genotype
  2. Filtering of variants
  3. Classification of variants


Speakers
avatar for Lianna Kyriakopoulou, PhD

Lianna Kyriakopoulou, PhD

Director, Division of Genome Diagnostics, PLM, The Hospital for Sick Children, Toronto
Dr. Lianna Kyriakopoulou is a director of Genome Diagnostics at the Hospital for Sick Children. She received her PhD in Microbiology and Molecular and Medical Genetics from the University of Toronto. She is certified by the Canadian Academy of Clinical Biochemistry and the American College of Medical Genetics in Clinical Molecular Genetics. Current interests include the diagnosis of rare disorders with next generation sequencing and the... Read More →


Tuesday February 28, 2017 11:00 - 11:15
CRL Event Room 3a/3b PGCRL Bay Street Toronto