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
    OCT 02, 2019 11:00 AM PDT
    OCT 02, 2019 11:00 AM PDT
    DATE: October 2, 2019TIME: 11:00am PDT, 2:00pm EDT Ditch the Excel spreadsheets and manage your molecular workflows entirely in your LIMS Achieve configuration of molecular workf...
    SEP 05, 2019 4:00 PM CEST
    C.E. CREDITS
    SEP 05, 2019 4:00 PM CEST
    DATE: September 5, 2019TIME: 7:00am PT, 10:00am ET, 4:00pm CEST PCR (Polymerase Chain Reaction) has gone through a massive evolution since its development in 1983. Besides it...
    AUG 27, 2019 9:00 AM PDT
    C.E. CREDITS
    AUG 27, 2019 9:00 AM PDT
    DATE: August 27, 2019 TIME: 9:00am PDT, 12:00pm EDT Immunotherapies targeting PD-1 or PD-L1 have proven remarkably effective for treating cancer in some patients, with considerabl...
    JAN 23, 2020 9:00 AM PST
    C.E. CREDITS
    JAN 23, 2020 9:00 AM PST
    DATE: January 23, 2020 TIME: 9:00am PST, 12:00pm EST...
    NOV 18, 2019 7:00 AM PST
    C.E. CREDITS
    NOV 18, 2019 7:00 AM PST
    DATE: November 18, 2019TIME: 7:00am PST, 11:00am EST, 4:00pm CEWT How often do you pipette in your cell culture lab every day? Usually, we do it so often that we tend stop th...
    FEB 26, 2020 9:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    FEB 26, 2020 9:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: February 26, 2020 TIME: 9:00am PST 3D cell culture and analysis and the study of organoids and spheroids are becoming more prevalent as a research method in publications as traditional...
    Loading Comments...
    Show Resources
    Attendees