AUG 22, 2013 12:00 PM PDT

Exome Sequencing as a Diagnostic Tool

C.E. CREDITS: CE
Speakers
  • Associate Professor, Department of Pathology, University of Utah, Medical Director, Molecular Genetics and Genomics ARUP Laboratories
    Biography
      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.

    Abstract:
    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.

    Show Resources
    You May Also Like
    JUN 26, 2018 06:00 AM PDT
    C.E. CREDITS
    JUN 26, 2018 06:00 AM PDT
    Date: June 26, 2018Time: 6:00 a.m. PDT, 9:00 a.m. EDT, 1500 CEST Today’s hematology analyzers employ various methods for enumerating platelets. These methods include: e...
    AUG 16, 2018 08:00 AM PDT
    C.E. CREDITS
    AUG 16, 2018 08:00 AM PDT
    DATE: August, 16, 2018TIME: 08:00AM PDTThis webinar will review recent advancements in the application of next-generation sequencing of T cell receptor beta (TCRB) chain repertoires towards...
    MAY 03, 2018 11:00 AM PDT
    MAY 03, 2018 11:00 AM PDT
    DATE: May 3, 2018TIME: 11:00AM PDT, 2:00PM EDTWhile stress is one of the leading causes of neuropsychiatric disorders, the molecular underpinnings of how stress induces alterations in b...
    JUN 20, 2018 10:00 AM EDT
    C.E. CREDITS
    JUN 20, 2018 10:00 AM EDT
    DATE: June 20, 2018TIME: 07:00AM PDT, 10:00AM EDTIntroducing GE’s New Lyo-StableTM service. Sepsis is one of the top challenges facing hospitals in terms of clinical outcomes...
    APR 25, 2018 07:00 AM PDT
    C.E. CREDITS
    APR 25, 2018 07:00 AM PDT
    DATE: April 25, 2018TIME: 1500 CET, 10:00 a.m. EST, 7:00 a.m. PST Hematology and coagulation laboratories perform a wide range of routine and specialized tests, allowing clinicians to...
    SEP 18, 2018 02:00 PM GMT
    C.E. CREDITS
    SEP 18, 2018 02:00 PM GMT
    DATE: September 18, 2018TIME:  07:00am PDT, 2:00pm GMT Next Generation Sequencing has become an essential tool in clinical diagnostic laboratories, however this technolo...
    Loading Comments...