Evidence-Based Methods For Gene-Disease Associations

  • As genomic sequencing technologies advance and testing becomes more widely utilized, reports of "new" gene-disease associations are rapidly increasing. The evidence available to support these claims varies. At what point is there enough evidence to confidently assert that variation in a gene causes a specific disease? 
    The ClinGen Gene Curation working group has put forth an evidence-based metric by which users can evaluate the strength of evidence supporting a gene-disease association. We will walk through the process and points to consider when evaluating both genetic and gene-level experimental evidence, reviewing examples of each. 

     

    Please note: You must attend the full length of the live course and complete the evaluation in order to claim CEUs.

    Erin Rooney Riggs, MS, CGC

    Webinar CEU

    Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

    Webinar PACE

    Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

  • Mon, June 5, 2017
  • 12:00pm PDT
  • Duration: 1 hour
  • C.E.U.
    1 Category 1 Contact Hour
  • P.A.C.E. 1 unit

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