AUG 22, 2013 12:00 PM PDT

Exome Sequencing as a Diagnostic Tool

  • Associate Professor, Department of Pathology, University of Utah, Medical Director, Molecular Genetics and Genomics ARUP Laboratories
      Dr. Bayrak-Toydemir is a Medical Director of the Molecular Genetics and Genomics Laboratories at Associated Regional and University Pathologists (ARUP) Laboratories and an Associate Professor of Pathology at the University of Utah, School of Medicine. Dr. Bayrak-Toydemir received her MD from Ankara University School of Medicine in Ankara, Turkey, where she also received her PhD in Human Genetics. Subsequently, she completed her fellowship in Clinical Molecular Genetics at the University of Utah. She is board certified in clinical molecular genetics. Dr. Bayrak-Toydemir has a long term interest in identification of genes that cause various inherited vascular malformations. Specifically, she is interested in hereditary hemorrhagic telangiectasia, capillary malformation-arteriovenous malformation syndrome, and aortopathies. She has extensive experience on both the clinical and research applications of the next generation sequencing technology. Under her leadership Molecular Genetics Laboratory is able to offer a long list of gene panels and exome sequencing, and help to improve patient management in various disorders, by providing a comprehensive evaluation of the underlying genetic background.

    It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Sequencing is a powerful and highly efficient diagnostic tool to identify disease-causing DNA variants in individuals. In this talk, I will discuss the methodology, validation, reporting, and bioinformatics aspects of clinical exome sequencing. In addition, I will talk about the regulations regarding reporting of incidental findings and the American College of Medical Genetics guidelines. I will include discussion of advantages and disadvantages of the methodology based on examples of positive and negative clinical exome sequencing results.

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