MAY 14, 2015 12:00 PM PDT

Make your clinical sequencing count: technical and content decisions for improved disease targeted panels

Speaker
  • Director of the Translational Genomics Core of Partners HealthCare Personalized Medicine, Harvard Medical School
    Biography
      Sami Amr is the Director of the Translational Genomics Core of Partners HealthCare Personalized Medicine where he feels privileged to work with basic and translational researchers across Partners Healthcare to identify DNA, RNA, and methylation markers and signatures of disease that can help de-convolute underlying mechanisms of pathogenesis as well as be leveraged in diagnostic and clinical assays.

    Abstract

    With current NGS platforms, the boundaries of variant detection and gene content for genetic disease panels has been vastly expanded leading to increases in detection rates. However these platforms also bring different technical and interpretive challenges faced by molecular diagnostic laboratories. Using hearing loss genetic testing as an example, strategies to overcome these challenges will be explored with an emphasis on alleviating the genetic data interpretation burden and improving assay performance. These approaches can lead to faster turnaround times and lower the cost of testing, while lessening the ambiguities of clinical genetic reports. Learning Objectives: 1. Describe technical challenges of targeted gene panel sequencing, such as CNV analysis and pseudogene contamination, and potential solutions that clinical laboratories can implement to retain analytical sensitivity and specificity. 2. Assess clinical panel inclusion for genes using on an evidence based approach, with examples from genes associated with nonsyndromic hearing loss.


    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...
    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...
    APR 07, 2020 8:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    APR 07, 2020 8:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: April 7, 2020 TIME: 8:00am PT, 11:00am ET This webinar sets out to establish why quality control is key to robust, reliable, reproducible science. We will look at best practice criteri...
    MAY 08, 2020 10:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    MAY 08, 2020 10:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: May 8, 2020 TIME: 10:00am PT, 11:00am MT, 1:00pm ET The application of next generation sequencing to interrogate immune repertoires and methods in which these highly complex dataset...
    FEB 19, 2020 11:00 AM PST
    C.E. CREDITS
    FEB 19, 2020 11:00 AM PST
    DATE: February 19, 2020TIME: 11:00am PST, 2:00pm EST...
    FEB 26, 2020 9:00 AM PST
    C.E. CREDITS
    FEB 26, 2020 9:00 AM PST
    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