AUG 22, 2013 10:00 AM PDT

Clinical Interpretation of Sequence Variants

C.E. Credits: CE
Speaker
  • Associate Professor (Clinical) of Pathology, Division Medical Director, Genetics, Co-Program Director, Clinical Genetics Fellowship Program, Program Director, Molecular Genetics Fellowship Pr
    Biography
      Dr. Lyon is the medical director of the Genetics Division, co-medical director of Pharmacogenomics, and co-director of the Molecular Genetics Fellowship Program at ARUP, and an associate professor of pathology at the University of Utah School of Medicine. She received her PhD in medical genetics from the University of Alabama at Birmingham and continued with fellowship training in clinical molecular genetics at the University of Utah. Dr. Lyon combines clinical laboratory responsibilities with research and development in human genetics, employing methods for mutation detection by targeted mutation analysis, gene sequencing, gene scanning, exonic-level deletion, and duplications and molecular haplotyping. Dr. Lyon has focused her interest in studies to determine the significance of rare variants and is involved with evaluating and establishing locus-specific databases that combine genetic variants with clinical symptoms.

    Abstract
    The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in genes related to drug metabolism that may affect efficacy or response. This presentation will describe the potential of NGS data for companion diagnostics or therapeutics and its implementation into clinical laboratories. Evaluating pharmacogenetic targets through exome analysis as well as through targeted gene panels will be discussed.

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