Results from functional assays can be used as evidence to inform variant classification. Historically, functional assays were built around specific variants of interest and generated relatively small-scale data. Advances in genomic technology, including CRISPR-Cas9, have allowed for the development of Multiplex Assays of Variant Effect (MAVEs). In this webinar, we will discuss how MAVEs can assess a large number of variants in a single experiment, review recommendations for using MAVE data for variant interpretation, and review recent studies that apply high-throughput functional evidence towards clinical classifications.
Level of Instruction: Intermediate