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