Using Multiplexed Functional Data to Reduce Variant Classification Inequities in Underrepresented Populations

Moez Dawood,Shawn Fayer,Sriram Pendyala,Mason Post,Divya Kalra,Karynne Patterson,Eric Venner,Lara A. Muffley,Douglas M. Fowler,Alan F. Rubin,Jennifer E. Posey,Sharon E. Plon,James R. Lupski,Richard A. Gibbs,Lea M. Starita,Carla Daniela Robles-Espinoza,Willow Coyote-Maestas,Irene Gallego Romero

GENOME MEDICINE（2024）

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关键词

MAVE,Multiplexed assay of variant effects,Variants of uncertain significance,VUS,Pathogenic,Benign,Genetic ancestry,Equity,Inequity,All of Us,gnomAD,Missense

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