MAY 09, 2019 06:00 AM PDT

AI-Driven Literature Curation for Determining Genomic Variant Pathogenicity

C.E. CREDITS: P.A.C.E. CE | Florida CE
Speakers
  • Co-Founder and Chief Science Officer, Genomenon
    Biography
      Dr. Mark Kiel is Co-Founder and Chief Science Officer at Genomenon, where he oversees the company's scientific direction and product development. After spending 15 years preparing for a life of academic research, Mark became convinced that revolutionary change in genomics was more likely to emerge out of industry. In 2014, he founded Genomenon - a life science IT company addressing the challenge of connecting doctors with evidence in the literature to help diagnose patients with genetic diseases and cancer.

    Abstract:

    Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foundation for this process, but several key obstacles remain. In particular, the identification and prioritization of key publications presents a time- and resource-intensive challenge for many labs.

    In this presentation, Dr. Mark Kiel, CSO and Co-Founder of Genomenon will discuss challenges to automating variant interpretation while improving the accuracy and reproducibility of the process using Mastermind - the world's most comprehensive literature-based Genomic Search Engine. He will guide the viewer through examples of Mastermind users, including the Rare Genomics Institute who were able to change their patients' diagnoses using findings that were only identified through Mastermind.

    Learning Objectives: 

    1. How to more efficiently identify and prioritize publications by ACMG variant classification guidelines.
    2. How increased specificity and immediate access to annotated search results accelerates variant interpretation workflow.
    3. How increased sensitivity in literature search results in fewer false negatives.
     


    Show Resources
    You May Also Like
    SEP 05, 2019 04:00 PM CEST
    C.E. CREDITS
    SEP 05, 2019 04:00 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...
    JUN 05, 2019 05:00 PM CEST
    C.E. CREDITS
    JUN 05, 2019 05:00 PM CEST
    DATE: June 5, 2019TIME: 8:00am PDT, 11:00am EDT, 5:00pm CEST Eukaryotic cell cultures respond to the most subtle influence. Apart from the risk of contamination, minimal chan...
    NOV 18, 2019 07:00 AM PST
    C.E. CREDITS
    NOV 18, 2019 07:00 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...
    AUG 27, 2019 09:00 AM PDT
    C.E. CREDITS
    AUG 27, 2019 09:00 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...
    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...
    DEC 10, 2019 09:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    DEC 10, 2019 09:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: December 10, 2019TIME: 9:00am PST, 12:00pm EST A major limitation in the ex vivo expansion of harvested human hematopoietic stem-progenitor cells (HSPCs) is the rapid dif...
    Loading Comments...
    Show Resources