Integrating Functional Studies into Variant Interpretation

Integrating Functional Studies into Variant Interpretation

Explore the integration of DNA and RNA functional data into ACMG-style variant classification systems in this informative webinar. Delve into commonly encountered assays in literature, evaluating their quality and appropriate weighting in variant interpretation, with a focus on recent ClinGen SVI recommendations. Learn from Marcy Richardson, PhD, a Variant Assessment Scientist at Ambry Genetics, as she shares her expertise in cancer predisposition genes and involvement in ClinGen efforts. Gain valuable insights into the complexities of genetic testing and variant interpretation, moderated by Lindsay Lipe, MS, CGC, an Oncology Genomic Science Liaison at Ambry Genetics.