Functional Annotation of Genomic Variants

Although genomic sequencing has become a routine practice, the functional impact of most newly identified variants remains difficult to predict with accuracy. This uncertainty hinders the diagnosis and treatment of genetic disorders. In this webinar, we will discuss new strategies that empower researchers to evaluate the functional effect of genomic variants and guide clinicians in their interpretation of patients’ sequencing results.

Learning objectives:

Describe the challenges associated with interpreting genomic variants.
Explore high-throughput approaches to assess functional consequences of missense variants.
Summarize current best practices for integrating functional data into variant classification.