Defining and Reducing Variant Classification Disparities.
Moez DawoodShawn FayerSriram PendyalaMason PostDivya KalraKarynne E PattersonEric VennerLara A MuffleyDouglas M FowlerAlan F RubinJennifer E PoseySharon E PlonJames R. LupskiRichard A GibbsJoshua T SchifferCarla Daniela Robles-EspinozaWillow Coyote-MaestasIrene Gallego RomeroPublished in: medRxiv : the preprint server for health sciences (2024)
Generation of saturation-style MAVE data should be a priority to reduce VUS disparities and produce equitable training data for future computational predictors.