NOV 02, 2016 06:00 AM PDT

Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance

C.E. CREDITS: P.A.C.E. CE | Florida CE
Speakers
  • Director, Global Product Management, Clinical Program; QIAGEN Bioinformatics
    Biography
      Anika Joecker is a director in the global product management department in the clinical program of QIAGEN bioinformatics. She has been working in the field of bioinformatics for the last 15 years and worked as a bioinformatics group leader at the German Cancer Research Center before she joined CLC bio, now QIAGEN in 2011.

    Abstract:

    Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often requires testing different modes of inheritance (de novo, compound heterozygote, recessive, or dominant). Indeed, selecting the most promising ones that best explain a patient’s entire phenotype, can be very time-consuming. In this presentation, we will present our new one-step trio workflow, which automatically checks for all modes of inheritance using optimized parameter settings for the complete data analysis, filtering, and interpretation workflow. We will illustrate this by reporting data from cases with undiagnosed genetic disorders. In combination with our new patient phenotype-driven sorting algorithm, which ranks variants using phenotype-disease associations, this simplifies and accelerates the identification of disease-causing variants. 


    Show Resources
    You May Also Like
    MAY 22, 2018 08:00 AM PDT
    C.E. CREDITS
    MAY 22, 2018 08:00 AM PDT
    DATE: May 22, 2018TIME: 08:00AM PDT The nuclear receptors pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are closely related transcription factors that...
    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...
    MAY 24, 2018 09:30 AM PDT
    C.E. CREDITS
    MAY 24, 2018 09:30 AM PDT
    DATE: May 24, 2018 TIME: 9:30PM PDT The current gold standard in in vitro pre-clinical cancer treatment screening remain cell lines,...
    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...
    APR 27, 2018 10:00 AM PDT
    C.E. CREDITS
    APR 27, 2018 10:00 AM PDT
    DATE: April 27, 2018TIME: 10:00am PST, 1:00pm ESTGlioblastoma (GBM) and Medulloblastoma (MB) are the most common adult and paediatric brain tumours, both of which can have devastating c...
    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...
    Loading Comments...