In this Review, Roden and co-workers describe how multiplexed assays of variant effects can be used for high-throughput functional assessment of nearly all coding variants in a target sequence to improve variant annotation for cardiovascular-related genes and to resolve the problem of classification as variants of uncertain significance. They also discuss how variant effect predictors can be integrated with multiplexed methods to inform cardiovascular genomic medicine.
- Andrew M. Glazer
- Daniel R. Tabet
- Dan M. Roden